The immune system is essential to survival, and even a modest decrease in immune function can leave a person susceptible to infection. But the immune system itself can also cause disease, by inappropriately attacking the body’s own organs, tissues, or cells.
More than 80 autoimmune diseases have been described to date. Some, such as type 1 diabetes, attack specific organs, while others, such as systemic lupus erythematosus (SLE), involve multiple organs. Although many autoimmune diseases are rare, collectively they affect approximately 5 to 8 percent of the U.S. population. A disproportionate number of people with autoimmune disorders are women. For unknown reasons, the prevalence of autoimmune diseases is increasing.
What is Autoimmune Disease?
Autoimmune diseases result from a dysfunction of the immune system. The immune system protects you from disease and infection. Sometimes, though, the immune system can produce autoantibodies that attack healthy cells, tissues, and organs.
This can lead to autoimmune disease. Autoimmune diseases can affect any part of the body, some are life-threatening, and most are Human Immune System debilitating and require a lifetime of treatment.
There are treatments available to reduce the symptoms and effects from many autoimmune diseases, but cures have yet to be discovered.
Collectively, autoimmune diseases are among the most prevalent diseases in the U.S., affecting more than 23.5 million Americans. They are more common among women, and while some are more prevalent among white people, others are more common among African-Americans and Hispanics. Autoimmune diseases are becoming increasingly prevalent, for reasons unknown.
Some autoimmune diseases are life-threatening, and most are debilitating and require a lifetime of treatment. There are treatments available to reduce the symptoms and effects from many autoimmune diseases, but cures have yet to be discovered. Since most autoimmune diseases are rare, patients can often spend years seeking a proper diagnosis.
Learn More about AutoImmune Diseases
- Addison's Disease
Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison’s disease occurs if the adrenal glands don’t make enough of these hormones.
A problem with your immune system usually causes Addison’s disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands.SOURCE: MedlinePlus- A service of the U.S. National Library of Medicine & National Institutes of Health
- Adult-Onset Still's Disease
Adult-onset Still’s disease (AOSD) is an inflammatory disease characterized by high fevers, rash, sore throat, and joint pain. Several joints are often affected at the same time, and the joints are often stiff for several hours in the morning. Fevers develop each day (usually in the afternoon or evening), and the rash comes and goes with the fever. Other signs and symptoms may include abdominal pain, pleurisy, swollen lymph nodes, and weight loss. In some cases, the lungs and heart become inflamed. As it progresses, the disease may lead to chronic arthritis and other complications.SOURCE: U.S Department of Health and Human Services
Agammaglobulinemia is an inherited disorder in which there are very low levels of protective immune system proteins called immunoglobulins. People with this disorder repeatedly develop infections.
Agammaglobulinemia is a rare disorder that mainly affects males. It is the result of a genetic abnormality that blocks the development of normal, mature immune system cells called B lymphocytes. As a result, the body produces very little (if any) immunoglobulins in the bloodstream. Immunoglobulins play a major role in the immune response, which protects against illness and infection.
Without protective immunoglobulins, people with agammaglobulinemia repeatedly develop infections. People with this disorder are particularly susceptible to bacterial infections caused by Haemophilus influenzae, pneumococci (Streptococcus pneumoniae), and staphylococci, as well as to repeated viral infections. Common sites of infection include:
- Gastrointestinal tract
- Upper respiratory tract
People with this condition may have a family history of agammaglobulinemia (or another immune disorder).SOURCE: MedlinePlus- A service of the U.S. National Library of Medicine & National Institutes of Health
- Alopecia Areata
Alopecia totalis; Alopecia universalis
Alopecia areata is a condition that causes round patches of hair loss, and can lead to total hair loss.
Causes, incidence, and risk factors
The cause of alopecia areata is unknown. About a fifth of people with this condition have a family history of alopecia.
Alopecia areata is thought to be an autoimmune condition. This occurs when the immune system mistakenly attacks and destroys healthy body tissue.
Alopecia areata is seen in men, women, and children. A major life event such as an illness, pregnancy, or trauma occurs before the hair loss in some, but not most patients.
Forms of alopecia include:
SOURCE: PubMed Health
- Alopecia areata – patches of hair loss, usually on the scalp, but they also can be in the beard or other areas
- Alopecia totalis – complete loss of scalp hair
- Alopecia universalis – total loss of all body hair
- Ankylosing Spondylitis
Ankylosing spondylitis (AS) is a type of arthritis that affects the spine. AS often involves redness, heat, swelling, and pain in the spine or in the joint where the bottom of the spine (sacrum) joins the pelvic bone (ilium).
In some people, AS can also affect the shoulders, ribs, hips, knees, and feet. It can also affect areas where the tendons and ligaments attach to the bones. Sometimes it can affect the eyes, bowel, and very rarely, the heart and lungs.
Many people with AS have mild back pain that comes and goes. Others have severe pain that doesn’t go away. Sometimes the spine becomes stiff. In the worst cases, the swelling can cause two or more bones of the spine to fuse. This may stiffen the rib cage, making it hard to take a deep breath.SOURCE: National Institute of Health
- Antiphospholipid Antibody Syndrome (APS)
Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders occur if the body’s immune system makes antibodies that attack and damage the body’s tissues or cells. Antibodies are a type of protein. The immune system usually makes these proteins to defend against infection.
In APS, the body makes antibodies that mistakenly attack phospholipids—a type of fat. Phospholipids are found in all living cells and cell membranes, including blood cells and the lining of blood vessels.
When antibodies attack phospholipids, they damage cells. This causes unwanted blood clots to form in the body’s arteries and veins. (These are the vessels that carry blood to your heart and body.)
Usually, blood clotting is a normal bodily process. Blood clots help seal small cuts or breaks on blood vessel walls. This prevents you from losing too much blood. In APS, however, too much blood clotting can block blood flow and damage the body’s organs.SOURCE: National Heart Lung and Blood Institute
- Autoimmune-Related Diseases
The following are some conditions suspected or theorized to be linked to autoimmunity or are linked to certain autoimmune diseases:
- Acute disseminated encephalomyelitis (ADEM)
- Acute necrotizing hemorrhagic leukoencephalitis
- Anti-GBM/Anti-TBM nephritis
- Autoimmune: angioedema, aplastic anemia, dysautonomia, hepatitis, hyperlipidemia, immunodeficiency, inner ear disease (AIED), myocarditis, pancreatitis, retinopathy, thrombocytopenic purpura (ATP), thyroid disease, urticaria
- Axonal & neuronal neuropathies
- Balo disease
- Bullous pemphigoid
- Behcet’s disease
- Bullous pemphigoid
- Castleman disease
- Celiac disease
- Chargas’ disease
- Chronic fatigue syndrome
- (CIDP) Chronic inflammatory demyelinating polyneuropathy
- (CRMO) Chronic recurrent multifocal ostomyelitis
- Churg-Strauss syndrome
- Dressler’s syndrome
- Hemolytic anemia
- Interstitial cystitis
- Kawasaki’s Disease
- Lambert-Eaton syndrome
- P.A.N.D.A.S (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus)
- Cicatricial Pemphigoid
Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50’s or 60’s), affects more women than men, and has a variable prognosis. Scarring of the affected mucosa of the eye may lead to blindness and tends to be the most feared complication. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5. Treatment is dependent on the person’s specific symptoms.SOURCE: Genetic and Rare Diseases Information Center
- Cogan's Syndrome
Cogan syndrome is a rare autoimmune disease that affects the eyes and inner ears. Symptoms of the syndrome include irritation and pain in the eyes, decreased vision, hearing loss, and vertigo. Other symptoms may include joint or muscle pain or inflammation of the blood vessels.
The exact cause of Cogan syndrome is not well-understood. It is thought that the syndrome is caused by an autoimmune response that causes the immune system to attack the tissues of the eyes and ears. Cogan syndrome is not known to run in families. Diagnosis of Cogan syndrome is based on observing symptoms associated with the syndrome and ruling out other possible causes of the symptoms. Treatment options generally include corticosteroids and immunosuppressive agents.SOURCE: Genetic and Rare Diseases Information Center
- Cold Agglutinin Disease
Cold agglutinin disease is a rare type of autoimmune hemolytic anemia in which the body’s immune system mistakenly attacks and destroys its own red blood cells. When affected people’s blood is exposed to cold temperatures (32º to 50º F), certain proteins that normally attack bacteria (IgM antibodies) attach themselves to red blood cells and bind them together into clumps (agglutination). This eventually causes red blood cells to be prematurely destroyed (hemolysis) leading to anemia and other associated signs and symptoms. Cold agglutinin disease can be primary (unknown cause) or secondary, due to an underlying condition such as an infection, another autoimmune disease, or certain cancers. Treatment depends on many factors including the severity of the condition, the signs and symptoms present in each person, and the underlying cause.SOURCE: U.S Department of Health and Human Services
- CREST Syndrome
CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs. The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease.
(C) - Calcinosis: calcium deposits in the connective tissues
(R) - Raynaud’s phenomenon: where the hands and feet turn white and cold and then blue, in response to cold or anxiety
(E) - Esophageal dysfunction resulting in swallowing difficulty
(S) - Sclerodactyly: thick and tight skin on the fingers, caused by an excess of collagen deposits within skin layers.
(T) - Telangiectasia: small red spots on the hands and face that are caused by the swelling of tiny blood vessels.
At least two of these five features need to be present to be diagnosed with the disease. CREST syndrome is believed to be an autoimmune disorder, where the immune system appears to stimulate the production of too much collagen which builds up in the skin and internal organs, impairing their function. There is no cure. Current treatment focuses on relieving signs and symptoms and preventing complications.SOURCE: U.S Department of Health and Human Services
- Dermatitis Herpetiformis
Dermatitis herpetiformis (DH) is a chronic, intensely itchy, blistering skin manifestation of gluten-sensitive enteropathy, commonly known as celiac disease. DH is a rash that affects about 10 percent of people with celiac disease.1 DH is found mainly in adults and is more common in men and people of northern European descent; DH is rarely found in African Americans and Asian Americans.SOURCE: National Institute of Diabetes and Digestive and Kidney Diseases
Myositis is inflammation of your skeletal muscles, which are also called the voluntary muscles. These are the muscles you consciously control that help you move your body. An injury, infection or autoimmune disease can cause myositis.
The diseases dermatomyositis and polymyositis both involve myositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash. Both diseases are usually treated with prednisone, a steroid medicine, and sometimes other medicines.SOURCE: MedlinePlus- A service of the U.S. National Library of Medicine & National Institutes of Health
- Devic's Disease (Neuromyelitis Optica)
What is Neuromyelitis Optica?
Neuromyelitis optica (NMO) is an uncommon disease syndrome of the central nervous system (CNS) that affects the optic nerves and spinal cord. Individuals with NMO develop optic neuritis, which causes pain in the eye and vision loss, and transverse myelitis, which causes weakness, numbness, and sometimes paralysis of the arms and legs, along with sensory disturbances and loss of bladder and bowel control. NMO leads to loss of myelin, which is a fatty substance that surrounds nerve fibers and helps nerve signals move from cell to cell. The syndrome can also damage nerve fibers and leave areas of broken-down tissue. In the disease process of NMO, for reasons that aren’t yet clear, immune system cells and antibodies attack and destroy myelin cells in the optic nerves and the spinal cord.
Historically, NMO was diagnosed in patients who experienced a rapid onset of blindness in one or both eyes, followed within days or weeks by varying degrees of paralysis in the arms and legs. In most cases, however, the interval between optic neuritis and transverse myelitis is significantly longer, sometimes as long as several years. After the initial attack, NMO follows an unpredictable course. Most individuals with the syndrome experience clusters of attacks months or years apart, followed by partial recovery during periods of remission. This relapsing form of NMO primarily affects women. The female to male ratio is greater than 4:1. Another form of NMO, in which an individual only has a single, severe attack extending over a month or two, is most likely a distinct disease that affects men and women with equal frequency. The onset of NMO varies from childhood to adulthood, with two peaks, one in childhood and the other in adults in their 40s.
In the past, NMO was considered to be a severe variant of multiple sclerosis (MS) because both can cause attacks of optic neuritis and myelitis. Recent discoveries, however, suggest it is a separate disease. NMO is different from MS in the severity of its attacks and its tendency to solely strike the optic nerves and spinal cord at the beginning of the disease. Symptoms outside of the optic nerves and spinal cord are rare, although certain symptoms, including uncontrollable vomiting and hiccups, are now recognized as relatively specific symptoms of NMO that are due to brainstem involvement.
The recent discovery of an antibody in the blood of individuals with NMO gives doctors a reliable biomarker to distinguish NMO from MS. The antibody, known as NMO-IgG, seems to be present in about 70 percent of those with NMO and is not found in people with MS or other similar conditions.Source: National Institute of Neurological Disorders and Stroke
- Discoid Lupus
Discoid lupus erythematosus (DLE) is a chronic skin condition of sores with inflammation and scarring favoring the face, ears, and scalp and at times on other body areas. These lesions develop as a red, inflamed patch with a scaling and crusty appearance. The center areas may appear lighter in color with a rim darker than the normal skin. When lesions occur in hairy areas such as the beard or scalp, permanent scarring and hair loss can occur. A small percentage of patients with discoid lupus can develop disease of the internal organs, which can make the person sick. Children and people with many spots are usually at more risk of this. If a doctor suspects this condition, a skin biopsy needs to be done to confirm the diagnosis because other conditions can look like discoid lupus erythematosus. If the skin biopsy shows discoid lupus erythematosus, then further blood testing may be indicated.
The exact cause is unknown, but it is thought to be autoimmune with the body’s immune system incorrectly attacking normal skin. This condition tends to run in families. Females outnumber males with this condition 3 to 1. In some patients with discoid lupus erythematosus, sunlight and cigarette smoking may make the lesions come out.SOURCE: The American Osteopathic College of Dermatology
- Eosinophilic Esophagitis (Eoe)
Eosinophilic esophagitis (EoE) is a chronic disease of the esophagus. Your esophagus is the muscular tube that carries food and liquids from your mouth to the stomach. If you have EoE, white blood cells called eosinophils build up in your esophagus. This causes damage and inflammation, which can cause pain and may lead to trouble swallowing and food getting stuck in your throat. EoE is rare. But because it is a newly recognized disease, more people are now getting diagnosed with it. Some people who think that they have reflux (GERD) may actually have EoE. Researchers are not certain about the exact cause of EoE. They think that it is an immune system/allergic reaction to foods or to substances in your environment, such as dust mites, animal dander, pollen, and molds. Certain genes may also play a role in EoE.SOURCE: Medline Plus
- Eosinophilic Fasciitis
Eosinophilic fasciitis is a rare disorder characterized by inflammation of the tough band of fibrous tissue beneath the skin (fascia). The arms and legs are most often affected. Inflammation is caused by the abnormal accumulation of certain white blood cells including eosinophils in the fascia. Eosinophilic fasciitis eventually causes the skin to swell and slowly thicken and harden (induration). The disorder most commonly affects middle-aged adults. The specific symptoms and severity of eosinophilic fasciitis can vary from one individual to another. The exact cause of eosinophilic fasciitis is unknown.SOURCE: National Organization for Rare Disorders
- Essential Mixed Cryoglobulinemia
Mixed cryoglobulinemia is a rare disorder characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that thicken and clump together at cold temperatures, usually below 98.6 degrees Fahrenheit (the average human body temperature). However, the exact temperature at which this occurs may vary from one person to another. When these proteins clump together, they can restrict blood flow to joints, muscles, and organs. Eventually, damage or inflammation of affected blood vessels and surrounding tissue can develop, a condition known as vasculitis. Small blood vessels are usually affected, but occasionally larger blood vessels are involved. Common symptoms include skin lesions, joint pain (arthralgia), and weakness, but specific symptoms can vary greatly from one person to another and can potentially involve multiple organ systems. Mixed cryoglobulinemia is believed to be an immune-mediated disorder (in which the immune system response to chronic infection causes damage to various tissues) or an autoimmune disorder (in which the immune system mistakenly attacks the body’s own tissue). Many cases of mixed cryoglobulinemia are associated with chronic infection with the hepatitis C virus. In rare cases, no underlying cause for the disorder can be identified (essential mixed cryoglobulinemia).SOURCE: National Organization for Rare Disorders
- Evans Syndrome
Evans syndrome is an autoimmune disorder in which a person’s own antibodies attack red blood cells (RBC), which deliver oxygen to body tissues, platelets (which help blood clot), and/or neutrophils (a type of white blood cell that helps fight infections). The disorder resembles a combination of autoimmune hemolytic anemia (AIHA; the premature destruction of RBC), thrombocytopenia (too few platelets), and/or neutropenia (too few neutrophils). These may occur simultaneously, or one may follow the other.
There is no known genetic cause of Evans syndrome, and occurrences in families are rare. It is considered a chronic disease, with periods of remission and exacerbation. Thrombocytopenia recurs in about 60 percent of patients, while autoimmune hemolytic anemia (AIHA) recurs in about 30 percent.SOURCE: Dana-Farber Cancer Institute
- Giant Cell Arteritis (Temporal Arteritis)
Giant cell arteritis is a disorder that causes inflammation of your arteries, usually in the scalp, neck, and arms. It narrows the arteries, which keeps blood from flowing well. Giant cell arteritis often occurs with another disorder called polymyalgia rheumatica. Both are more common in women than in men. They almost always affect people over the age of 50.SOURCE: Medline Plus
Glomerulonephritis is a type of kidney disease in which the part of your kidneys that helps filter waste and fluids from the blood is damaged.
Glomerulonephritis may be caused by specific problems with the body’s immune system. Often, the precise cause of glomerulonephritis is unknown.
Damage to the glomeruli causes blood and protein to be lost in the urine.
The condition may develop quickly, with loss of kidney function occurring over weeks and months (called rapidly progressive glomerulonephritis).
In about a quarter of people with chronic glomerulonephritis there is no history of kidney disease and the disorder first appears as chronic renal failure.
The following increase your risk of developing this condition:
- History of cancer
- Blood or lymphatic system disorders
- Exposure to hydrocarbon solvents
- Infections such as strep infections, viruses, heart infections,or abscesses
- Goodpasture's Syndrome
Goodpasture’s syndrome is a rare disease that can affect the lungs and kidneys. Also called anti-glomerular basement antibody disease, it is an autoimmune disease-a condition in which the body’s own defense system reacts against some part of the body itself. When the immune system is working normally, it creates antibodies to fight off germs. In Goodpasture’s syndrome, the immune system makes antibodies that attack the lungs and kidneys. Why this happens is not fully understood. Researchers have identified a number of possible causes, among them the presence of an inherited component; exposure to certain chemicals, including hydrocarbon solvents and the weed killer Paraquat; and viral infections.Source: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH)
- Graves Disease
Graves disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).
The thyroid gland is an important organ of the endocrine system. It is located in the front of the neck just below the voice box. This gland releases the hormones thyroxine(T4) and triiodothyronine(T3), which control body metabolism. Controlling metabolism is critical for regulating mood, weight, and mental and physical energy levels.
If the body makes too much thyroid hormone, the condition is called hyperthyroidism. (An underactive thyroidleads to hypothyroidism.)
Graves disease is the most common cause of hyperthyroidism. It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is most common in women over age 20. However, the disorder may occur at any age and may affect men as well.SOURCE: PubMed Health
- Guillain-Barre Syndrome
Also called: Acute idiopathic polyneuritis, Acute inflammatory polyneuropathy, Infectious polyneuritis, Landry-Guillain-Barre syndrome.
Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS nerves connect your brain and spinal cord with the rest of your body. Damage to these nerves makes it hard for them to transmit signals. As a result, your muscles have trouble responding to your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery or a vaccination.
The first symptom is usually weakness or a tingling feeling in your legs. The feeling can spread to your upper body. In severe cases, you become almost paralyzed. This is life-threatening. You might need a respirator to breathe. Symptoms usually worsen over a period of weeks, then stabilize. Most people recover. Recovery can take a few weeks to a few years. Treatment options during the symptom period include medicines or a procedure called plasma exchange.
- Hashimoto's Disease
Hashimoto’s disease is an autoimmune disorder that can cause hypothyroidism, or underactive thyroid. With this disease, your immune system attacks your thyroid. The thyroid becomes damaged and can’t make enough thyroid hormones.
The thyroid is a small, butterfly-shaped gland in the front of your neck. Thyroid hormones control how your body uses energy, so they affect nearly every organ in your body—even the way your heart beats. Without enough thyroid hormones, many of your body’s functions slow down.SOURCE: NIH - National Institute of Diabetes and Digestive and Kidney Diseases
- Henoch-Schonlein Purpura (HSP)
Henoch-Schonlein purpura (HEN-awk SHURN-line PUR-pu-ruh) is a disorder that causes inflammation and bleeding in the small blood vessels in your skin, joints, intestines and kidneys. The most striking feature of Henoch-Schonlein purpura is a purplish rash, typically on the lower legs and buttocks. Henoch-Schonlein purpura can also cause abdominal pain and aching joints. Rarely serious kidney damage can occur. Henoch-Schonlein purpura can affect anyone. But it’s most common in children between the ages of 2 and 6. The condition usually improves on its own. Medical care is generally needed if the disorder affects the kidneys.SOURCE: Mayo Clinic
- Hidradenitis Suppurativa (HS) (Acne Inversa)
Hidradenitis suppurativa (hi-drad-uh-NIE-tis sup-yoo-ruh-TIE-vuh) is rare, long-term skin condition that features small, painful lumps under the skin. They typically develop where the skin rubs together, such as the armpits, the groin, between the buttocks and under the breasts. The lumps may break open and smell or cause tunnels under the skin. Hidradenitis suppurativa tends to start after puberty. It can persist for many years and worsen over time, with serious effects on your daily life and emotional well-being. Early diagnosis and treatment can help manage the symptoms, keep new lumps from forming and prevent complications, such as scarring or depression.SOURCE: Mayo Clinic
- Idiopathic Thrombocytopenic Purpura
Idiopathic thrombocytopenic purpura is a bleeding disorder in which the immune system destroys platelets, which are necessary for normal blood clotting. Persons with the disease have too few platelets in the blood.
ITP is sometimes called immune thrombocytopenic purpura.
ITP occurs when certain immune system cells produce antibodies against platelets. Platelets help your blood clot by clumping together to plug small holes in damaged blood vessels. The antibodies attach to the platelets. The spleen destroys the platelets that carry the antibodies.
In children, the disease sometimes follows a viral infection. In adults, it is more often a chronic (long-term) disease and can occur after a viral infection, with use of certain drugs, during pregnancy, or as part of an immune disorder.
ITP affects women more frequently than men, and is more common in children than adults. The disease affects boys and girls equally.
- Inclusion Body Myositis
Inclusion body myositis (IBM) is a progressive muscle disorder characterized by muscle inflammation, weakness, and atrophy (wasting). It is a type of inflammatory myopathy. IBM develops in adulthood, usually after age 50. The symptoms and rate of progression vary from person to person. The most common symptoms include progressive weakness of the legs, arms, fingers, and wrists. Some people also have weakness of the facial muscles (especially muscles controlling eye closure), or difficulty swallowing (dysphagia). Muscle cramping and pain are uncommon, but have been reported in some people.SOURCE: National Center for Advancing Translational Sciences
- Juvenile Arthritis
Juvenile arthritis (JA) is arthritis that happens in children. It causes joint swelling, pain, stiffness, and loss of motion. It can affect any joint, but is more common in the knees, hands, and feet. In some cases, it can affect internal organs as well.
The most common type of JA that children get is juvenile idiopathic arthritis. There are several other forms of arthritis affecting children.
One early sign of JA may be limping in the morning. Symptoms can come and go. Some children have just one or two flare-ups. Others have symptoms that never go away. JA can cause growth problems and eye inflammation in some children.SOURCE: Medline Plus
- Leukocytoclastic Vasculitis
Leukocytoclastic vasculitis (LCV), also termed hypersensitivity vasculitis, is a small-vessel vasculitis with a reported incidence rate of about 30 cases per million people per year and is thought to affect men and women in equal numbers. The skin is the organ most commonly involved in LCV. Typical presentation is a painful, burning rash predominantly in the lower extremities, with up to one-third of patients presenting with trunk and upper extremity involvementSOURCE: National Institute of Health
- Lichen Planus
Lichen planus (LIE-kun PLAY-nus) is a condition that can cause swelling and irritation in the skin, hair, nails and mucous membranes. On the skin, lichen planus usually appears as purplish, itchy, flat bumps that develop over several weeks. In the mouth, vagina and other areas covered by a mucous membrane, lichen planus forms lacy white patches, sometimes with painful sores.
Most people can manage typical, mild cases of lichen planus at home, without medical care. If the condition causes pain or significant itching, you may need prescription drugs. Lichen planus isn’t contagious.SOURCE: MAyo Clinic
- Lichen Sclerosus
Lichen sclerosus is a chronic skin disorder that most commonly affects post-menopausal women. However, it is sometimes identified among pre-menopausal women, and, even more rarely, among males. When found in males, the disease is known as balanitis xerotica obliterans.
Lichen sclerosus is characterized by skin changes of the external genitalia (i.e., vulva, head of the penis), although other parts of the body may also be affected. Intense itching often accompanies attacks of lichen sclerosus. The disorder is not contagious nor is it a sexually transmitted disease. In the recent past, a genetic component for lichen sclerosus has been recognized. In addition, many clinical researchers believe that it is a disorder of the immunological system. The understanding of the causes of this disorder is still incomplete. Lichen sclerosus can develop concurrently with other conditions.SOURCE: National Organization for Rare Disorders
- Ligneous Conjunctivitis
Ligneous conjunctivitis is a rare disorder characterized by the buildup of a protein called fibrin which causes inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody (ligneous), inflamed growths that are yellow, white, or red. Ligneous conjunctivitis most often occurs on the inside of the eyelids, but may also affect the sclera, cornea and pupil, leading to vision loss. A systemic form of the condition may occur, affecting the mucous membranes of the larynx, vocal chords, nose, trachea, bronchi, vagina, cervix, and gingiva. The cause of ligneous conjunctivitis is unknown. Autosomal recessive inheritance has been suggested in some cases. Ligneous conjunctivitis is sometimes associated with a condition known as congenital plasminogen deficiencySOURCE: National Institute of Health
- Linear Iga Disease (LAD)
Linear IgA disease (LAD)Linear IgA disease (LAD) is an autoimmune subepidermal (lying beneath or constituting the innermost part of the epidermis) disease that may be idiopathic or drug-induced. Children and adults are affected, with disease of the former historically referred to as chronic bullous dermatosis of childhood. The clinical presentation appears similar to other blistering diseases, such as bullous pemphigoid and dermatitis herpetiformis.SOURCE: American Autoimmune Related Diseases Association, Inc.
- Lupus (SLE)
If you have lupus, your immune system attacks healthy cells and tissues by mistake. This can damage your joints, skin, blood vessels and organs. There are many kinds of lupus. The most common type, systemic lupus erythematosus, affects many parts of the body. Discoid lupus causes a rash that doesn’t go away. Subacute cutaneous lupus causes sores after being out in the sun. Another type can be caused by medication. Neonatal lupus, which is rare, affects newborns.
Anyone can get lupus, but women are most at risk. Lupus is also more common in African American, Hispanic, Asian and Native American women. The cause of lupus is not known.
- Meniere's Disease
Meniere’s disease is a disorder of the inner ear that causes severe dizziness (vertigo), ringing in the ears (tinnitus), hearing loss, and a feeling of fullness or congestion in the ear. Meniere’s disease usually affects only one ear.
Attacks of dizziness may come on suddenly or after a short period of tinnitus or muffled hearing. Some people will have single attacks of dizziness separated by long periods of time. Others may experience many attacks closer together over a number of days. Some people with Meniere’s disease have vertigo so extreme that they lose their balance and fall. These episodes are called “drop attacks.”
Meniere’s disease can develop at any age, but it is more likely to happen to adults between 40 and 60 years of age.SOURCE: National Institute of Health
- Microscopic Polyangiitis (MPA)
Microscopic polyangiitis (MPA) is a disorder that causes blood vessel inflammation (vasculitis), which can lead to organ damage. The kidneys, lungs, nerves, skin, and joints are the most commonly affected areas of the body. MPA is diagnosed in people of all ages, all ethnicities, and both genders. The cause of this disorder is unknown.SOURCE: National Institute of Health
- Mixed Connective Tissue Disease (MCTD)
Mixed connective tissue disease (MTCD) is an uncommon systemic inflammatory rheumatic disease. MCTD is a specific subset of the broader category of rheumatic “overlap syndromes”, a term used to describe when a patient has features of more than one classic inflammatory rheumatic disease. These classic rheumatic diseases include systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis. Individuals with an overlap syndrome may, but need not meet, complete diagnostic criteria for one (or more than one) classic rheumatic disease. MCTD is distinguished from other overlap syndromes by a laboratory result: MCTD patients have rheumatic overlap syndrome plus anti-RNP antibodies.SOURCE: National Organization of Rare Disorders
- Mooren's Ulcer
Mooren’s ulcer is a rapidly progressive, painful, ulcerative keratitis which initially affects the peripheral cornea and may spread circumferentially and then centrally. Mooren’s ulcer can only be diagnosed in the absence of an infectious or systemic cause and must be differentiated from other corneal abnormalities, such as Terrien’s degeneration. Although the etiology remains unknown, recent research has proposed an underlying immune process and a possible association with the hepatitis C virus. The response to medical and surgical intervention is typically poor, and the visual outcome can be devastating.SOURCE: National Institute of Health
- Mucha-Habermann Disease
Mucha-Habermann disease, also known as pityriasis lichenoides et varioliformis acuta or PLEVA, is a rare skin disorder. The lesions most often appear on the trunk and the arms and legs. Lesions tend to develop in small groups. Mucha-Habermann disease most often affects children or young adults. A more severe variant of this disorder, known as febrile ulceronecrotic Mucha-Habermann disease, can cause life-threatening complications in adults. The exact cause of Mucha-Habermann disease is unknown. Mucha-Habermannn is considered to be the acute end of a spectrum of skin disease known as pityriasis lichenoides. The more chronic end is known as pityriasis lichenoides chronica. In some cases, the term Mucha-Habermann disease may be used to denote the entire spectrum.SOURCE: National Organization for Rare Disorders
- Multiple Sclerosis (MS)
Multiple sclerosis (MS) is a nervous system disease that affects your brain and spinal cord. It damages the myelin sheath, the material that surrounds and protects your nerve cells. This damage slows down or blocks messages between your brain and your body, leading to the symptoms of MS. They can include:
- Visual disturbances
- Muscle weakness
- Trouble with coordination and balance
- Sensations such as numbness, prickling, or “pins and needles”
- Thinking and memory problems
No one knows what causes MS. It may be an autoimmune disease, which happens when your body attacks itself. Multiple sclerosis affects women more than men. It often begins between the ages of 20 and 40. Usually, the disease is mild, but some people lose the ability to write, speak or walk. There is no cure for MS, but medicines may slow it down and help control symptoms. Physical and occupational therapy may also help.
- Myasthenia Gravis
Myasthenia gravis interferes with messages your nerves send to your muscles. Myasthenia gravis often affects muscles in your head. Common symptoms are trouble with eye and eyelid movement, facial and swallowing. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it.
Myasthenia gravis is caused by a problem in the transmission of nerve signals to your muscles. Normally, nerve endings release a substance that attaches to receptors on your muscles. That tells your muscles to contract. If you have myasthenia gravis, your body’s own immune system makes antibodies to block that signal.
Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or autoimmune disease can cause it. Two specific kinds are polymyositis and dermatomyositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash.SOURCE: Medline Plus
- Optic Neuritis
Optic neuritis is an inflammation that damages the optic nerve, a bundle of nerve fibers that transmits visual information from your eye to your brain. Pain and temporary vision loss in one eye are common symptoms of optic neuritis.
Optic neuritis is linked to multiple sclerosis (MS), a disease that causes inflammation and damage to nerves in your brain and spinal cord. Signs and symptoms of optic neuritis can be the first indication of multiple sclerosis, or they can occur later in the course of MS. Besides MS, optic neuritis can occur with other infections or immune diseases, such as lupus.
Most people who have a single episode of optic neuritis eventually recover their vision. Treatment with steroid medications may speed up vision recovery after optic neuritis.SOURCE: Mayo Clinic
- Palindromic Rheumatism (PR)
Palindromic rheumatism (PR) is a type of recurrent arthritis characterized by episodes or “attacks” of joint inflammation, sequentially affecting one to several joint areas for hours to days. A PR attack often occurs suddenly without any obvious triggers or warning symptoms. Any joint(s) may be affected, but finger joints, wrists, and knees are most commonly affected. Symptoms during episodes may include pain, swelling, stiffness, and redness in and around the joints. Some people may have a fever and other systemic symptoms. Between episodes, people with PR have no symptoms. The time between episodes may last from days to months. The underlying cause of PR is not known. Some people with PR eventually develop chronic rheumatic disease, the most common being rheumatoid arthritis (RA). Others may develop lupus and/or other systemic disorders. People with anti-CCP antibodies detected in a blood test appear more likely to develop RA. There has been some evidence to support that PR can be a presenting feature of RA (or part of the spectrum of RA), rather than a distinct condition.SOURCE: National Institutes of Health
- Paraneoplastic Cerebellar Degeneration (PCD)
Paraneoplastic syndromes are a group of rare disorders that include paraneoplastic cerebellar degeneration (PCD). Paraneoplastic syndromes are thought to result from an abnormal immune response to an underlying (and often undetected) malignant tumor. PCD is a rare, non-metastatic complication of cancer. PCD is typically thought to be caused by antibodies generated against tumor cells. Instead of just attacking the cancer cells, the cancer-fighting antibodies also attack normal cells in the cerebellum. PCD occurs most often in individuals with the following cancers: ovarian cancer, cancer of the uterus, breast cancer, small-cell lung cancer, and Hodgkin lymphoma. Symptoms of PCD may include dizziness, loss of coordination, blurred vision, nystagmus, ataxia, and speech difficulties.SOURCE: National Institutes of Health
- Parry Romberg Syndrome
Parry-Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye.SOURCE: National Institutes of Health
- Parsonage-Turner Syndrome
Parsonage-Turner syndrome (PTS) is an uncommon neurological disorder characterized by rapid onset of severe pain in the shoulder and arm. This acute phase may last for a few hours to a few weeks and is followed by wasting and weakness of the muscles (amyotrophy) in the affected areas. PTS involves mainly the brachial plexus, the networks of nerves that extend from the spine through the neck, into each armpit and down the arms. These nerves control movements and sensations in the shoulders, arms, elbows, hands, and wrists. Other nerves in the arm or even the leg can also be involved. The exact cause of PTS is unknown, but it is believed to be caused by an abnormality of the immune system (immune-mediated disorder). The severity of the disorder can vary widely from one individual to another due, in part, to the specific nerves involved. Affected individuals may recover without treatment, meaning that strength returns to the affected muscles and pain goes away. However, individuals may experience recurrent episodes. Some affected individuals may experience residual pain and potentially significant disability.SOURCE: National Organization for Rare Disorders
Pemphigus is an autoimmune disorder in which your antibodies attack healthy cells in your skin and mouth, causing blisters and sores. No one knows what causes this attack. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people’s genes put them more at risk for pemphigus.
Pemphigoid is also an autoimmune skin disease. It leads to deep blisters that do not break easily. Pemphigoid is most common in older adults and may be fatal.
The treatment of pemphigus and pemphigoid is the same: one or more medicines. These may include:
- Steroids, which reduce inflammation
- Drugs that suppress the immune system response
- Antibiotics to treat associated infections
- Pernicious Anemia (PA)
Pernicious anemia is a rare blood disorder characterized by the inability of the body to properly utilize vitamin B12, which is essential for the development of red blood cells. Most cases result from the lack of the gastric protein known as intrinsic factor, without which vitamin B12 cannot be absorbed.SOURCE: National Organization for Rare Disorders
- POEMS Syndrome
POEMS syndrome is a rare, multisystem disorder. POEMS stands for the disorder’s features, which may include Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes. Signs and symptoms may include progressive sensorimotor polyneuropathy; enlarged liver, spleen, and/or lymph nodes; a disorder of the endocrine glands (often with multiple abnormalities); a monoclonal plasma cell proliferative disorder; and darkening of the skin (hyperpigmentation). Various other symptoms may also occur and may vary among affected people. The underlying cause of the disorder is not well understood. POEMS syndrome is a chronic disorder, with a median survival time of 8-14 years. There is no standard treatment; management depends on the underlying plasma cell disorder and may include radiation therapy, chemotherapy, and/or hematopoietic cell transplantation.SOURCE: MedlinePlus- National Institutes of Health
- Polyarteritis Nodosa
Polyarteritis nodosa is a rare multi-system disorder characterized by widespread inflammation, weakening, and damage to small and medium-sized arteries. Blood vessels in any organ or organ system may be affected, including those supplying the kidneys, heart, intestine, nervous system, and/or skeletal muscles. Damage to affected arteries may result in abnormally increased blood pressure (hypertension), “ballooning” (aneurysm) of an arterial wall, the formation of blood clots (thrombosis), obstruction of blood supply to certain tissues, and/or tissue damage and loss (necrosis) in certain affected areas.SOURCE: National Organization for Rare Disorders
- Polymyalgia Rheumatica
Polymyalgia rheumatica is a disorder that causes muscle pain and stiffness in your neck, shoulders, and hips. It is most common in women and almost always occurs in people over 50. The main symptom is stiffness after resting. Other symptoms include fever, weakness and weight loss. In some cases, polymyalgia rheumatica develops overnight. In others, it is gradual.SOURCE: Medline Plus
Polymyositis (pol-e-my-o-SY-tis) is an uncommon inflammatory disease that causes muscle weakness affecting both sides of your body. Having this condition can make it difficult to climb stairs, rise from a seated position, lift objects or reach overhead. Polymyositis most commonly affects adults in their 30s, 40s or 50s. It’s more common in blacks than in whites, and women are affected more often than men. Signs and symptoms usually develop gradually, over weeks or months. While there is no cure for polymyositis, treatment — ranging from medications to physical therapy — can improve your muscle strength and function.SOURCE: Mayo Clinic
- Postmyocardial Infarction Syndrome
Postmyocardial infarction syndromeDressler’s syndrome is a type of pericarditis — inflammation of the sac surrounding the heart (pericardium). Dressler’s syndrome is believed to be an immune system response after damage to heart tissue or to the pericardium, from events such as a heart attack, surgery or traumatic injury. Symptoms include chest pain, which may be similar to chest pain experienced during a heart attack. Dressler’s syndrome may also be called postpericardiotomy syndrome, postmyocardial infarction syndrome and post-cardiac injury syndrome.SOURCE: Mayo Clinic
- Primary Biliary Cirrhosis
Primary biliary cholangitis is a chronic disease in which the small bile ducts in the liver become injured and inflamed and are eventually destroyed. When there are no bile ducts, bile builds up and causes liver damage.SOURCE: National Institutes of Health / National Institute of Diabetes and Digestive and Kidney Diseases
- Primary Sclerosing Cholangitis
Primary sclerosing cholangitis, or PSC, is a chronic disease in which the bile ducts inside and outside the liver become inflamed and scarred, and eventually narrowed or blocked. When this happens, bile builds up in the liver and causes liver damage.SOURCE: MedlinePlus- National Institutes of Health / National Institute of Diabetes and Digestive and Kidney Diseases
- Psoriatic Arthritis
Psoriatic arthritis is a form of arthritis that affects some people who have psoriasis — a condition that features red patches of skin topped with silvery scales. Most people develop psoriasis first and are later diagnosed with psoriatic arthritis, but the joint problems can sometimes begin before skin lesions appear. Joint pain, stiffness and swelling are the main symptoms of psoriatic arthritis. They can affect any part of your body, including your fingertips and spine, and can range from relatively mild to severe. In both psoriasis and psoriatic arthritis, disease flares may alternate with periods of remission. No cure for psoriatic arthritis exists, so the focus is on controlling symptoms and preventing damage to your joints. Without treatment, psoriatic arthritis may be disabling.SOURCE: Mayo Clinic
- Pure Red Cell Aplasia (PRCA)
Acquired Pure Red Cell Aplasia is a rare bone marrow disorder characterized by an isolated decline of red blood cells (erythrocytes) produced by the bone marrow. Affected individuals may experience fatigue, lethargy, and/or abnormal paleness of the skin (pallor). Acquired Pure Red Cell Aplasia may occur for unknown reasons (idiopathic) or as a primary autoimmune disorder. It is also believed that Acquired Pure Red Cell Aplasia may occur secondary to a tumor of the thymus gland (thyoma), viral infections, or certain drugs.National Organization for Rare Disorders
- Pyoderma Gangrenosum
Pyoderma gangrenosum (PG) is an inflammatory skin disorder that is characterized by small, red bumps or blisters (papules or nodules) that eventually erode to form swollen open sores (ulcerations). The size and depth of the ulcerations vary greatly, and they are often extremely painful. In approximately 50 percent of cases, PG occurs secondary to another disorder such as inflammatory bowel disease. The exact cause of PG is unknown (idiopathic). Some researchers believe it may be an autoimmune disorder.SOURCE: National Organization for Rare Disorders
- Raynaud's Phenomenon
Raynaud’s disease is a rare disorder of the blood vessels, usually in the fingers and toes. It causes the blood vessels to narrow when you are cold or feeling stressed. When this happens, blood can’t get to the surface of the skin and the affected areas turn white and blue. When the blood flow returns, the skin turns red and throbs or tingles. In severe cases, loss of blood flow can cause sores or tissue death.SOURCE: Medline Plus
- Reactive Arthritis
Reactive arthritis is a general term for a form of joint inflammation (arthritis) that develops as a “reaction” to an infection in another area of the body (i.e., outside of the joints). Joint inflammation is characterized by redness, swelling, pain and warmth in and around the affected joint. In reactive arthritis, the large joints of the lower limbs and the sacroiliac joints are most often affected. Two other common symptoms of reactive arthritis are inflammation of the urinary tract and inflammation of the membrane (conjunctiva) that lines the eyelids (conjunctivitis). These three characteristic symptoms may occur separately, all at once or not at all. Additional symptoms such as fever, weight loss, lower back pain and heel pain may also occur. Reactive arthritis usually develops following a bout with certain bacterial infections including Chlamydia, Salmonella, Shigella, Yersinia, and Campylobacter.SOURCE: National Organization for Rare Disorders
- Relapsing Polychondritis
Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.SOURCE: National Institutes of Health / National Center for Advancing Translational Sciences
- Restless Legs Syndrome (RLS)
Restless legs syndrome (RLS) is a condition that causes an uncontrollable urge to move your legs, usually because of an uncomfortable sensation. It typically happens in the evening or nighttime hours when you’re sitting or lying down. Moving eases the unpleasant feeling temporarily. Restless legs syndrome, now known as restless legs syndrome/Willis-Ekbom disease (RLS/WED), can begin at any age and generally worsens as you age. It can disrupt sleep, which interferes with daily activities. Simple self-care steps and lifestyle changes may help you. Medications also help many people with restless legs syndrome.SOURCE: Mayo Clinic
- Retroperitoneal Fibrosis
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the membrane that surrounds the organs of the digestive system (the peritoneum). This area is known as the retroperitoneal space. Retroperitoneal fibrosis can occur at any age but appears most frequently between the ages of 40 and 60.SOURCE: National Institutes of Health
- Rheumatic Fever
Rheumatic fever is a disease that may develop after an infection with group A streptococcus bacteria (such as strep throat or scarlet fever). It can cause severe illness in the heart, joints, skin, and brain.SOURCE: Medline Plus
- Stiff Person Syndrome (SPS)
Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don’t yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinson’s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.SOURCE: National Institutes of Health
- Susac's Syndrome
Susac syndrome is a relatively rare disorder characterized by three main problems: impaired brain function (encephalopathy), partial or complete blockage (occlusion) of the small arteries and capillaries that supply blood to the retina (branch retinal artery occlusion, or BRAO), and inner ear disease (hearing loss, most notably). MRI of the brain typically reveals “snowball” lesions in the corpus callosum. Three main forms of Susac’s syndrome have become apparent. In one form, encephalopathy is the main problem. In the second form, BRAO and hearing loss are the main problems, and there is little or no brain disease. In the third form, encephalopathy is the main problem in the beginning, but recurrent episodes of BRAO become the main problem after the encephalopathy subsides. The encephalopathic form of Susac’s syndrome often resolves within 1-3 years. The other forms tend to follow a more prolonged, more chronic, or more recurrent course (for 3-10 years, or more). All forms require immunosuppressive treatment while the disease is active.SOURCE: National Organization of Rare Disorders
- Thrombocytopenic Purpura (TTP)
Thrombotic thrombocytopenia purpura (TTP) is a rare, serious blood disease. Major symptoms may include a severe decrease in the number of blood platelets (thrombocytopenia), abnormal destruction of red blood cells (hemolytic anemia), and disturbances in the nervous system and other organs occur as a result of small clots that form in the smallest arteries. The exact cause of thrombotic thrombocytopenic purpura is unknown.
Source:SOURCE: National Organization for Rare Disorders
- Tolosa-Hunt Syndrome (THS)
Tolosa-Hunt syndrome is a rare disorder characterized by severe periorbital headaches, along with decreased and painful eye movements (ophthalmoplegia). Symptoms usually affect only one eye (unilateral). In most cases, affected individuals experience intense sharp pain and decreased eye movements. Symptoms often will subside without intervention (spontaneous remission) and may recur without a distinct pattern (randomly). Affected individuals may exhibit signs of paralysis (palsy) of certain cranial nerves such as drooping of the upper eyelid (ptosis), double vision (diplopia), large pupil, and facial numbness. The affected eye often abnormally protrudes (proptosis). The exact cause of Tolosa-Hunt syndrome is not known, but the disorder is thought to be associated with inflammation of specific areas behind the eye (cavernous sinus and superior orbital fissure).
Source:SOURCE: National Organization for Rare Disorders
- Transverse Myelitis
Transverse myelitis is an inflammation of the spinal cord, a major part of the central nervous system. The spinal cord carries nerve signals to and from the brain through nerves that extend from each side of the spinal cord and connect to nerves elsewhere in the body. The term myelitis refers to inflammation of the spinal cord; transverse refers to the pattern of changes in sensation—there is often a band-like sensation across the trunk of the body, with sensory changes below. Causes of transverse myelitis include infections, immune system disorders, and other disorders that may damage or destroy myelin, the fatty white insulating substance that covers nerve cell fibers. Inflammation within the spinal cord interrupts communications between nerve fibers in the spinal cord and the rest of the body, affecting sensation and nerve signaling below the injury. Symptoms include pain, sensory problems, weakness in the legs and possibly the arms, and bladder and bowel problems. The symptoms may develop suddenly (over a period of hours) or over days or weeks.SOURCE: National Institutes of Health / National Institutes of Neurological Disorders and Stroke
- Ulcerative Colitis
Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes long-lasting inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine (colon) and rectum. Symptoms usually develop over time, rather than suddenly. Ulcerative colitis can be debilitating and can sometimes lead to life-threatening complications. While it has no known cure, treatment can greatly reduce signs and symptoms of the disease and even bring about long-term remission.SOURCE: Mayo Clinic
- Undifferentiated Connective Tissue Disease (UCTD)
Undifferentiated connective tissue disease (UCTD) is an autoimmune disease that can affect several systems in the body. Connective tissue disease (CTD) is classified as undifferentiated CTD when signs and symptoms are consistent with a CTD, but do not fulfill the diagnostic or classification criteria for one of the previously defined CTDs (for example, rheumatoid arthritis or lupus). Symptoms of UCTD vary, but more common symptoms include Raynaud phenomenon, arthritis, joint pain, fever, and symptoms involving the mucous membranes and skin such as dryness in the eyes and mouth, ulcers in the mouth, sensitivity to sunlight (photosensitivity), or hair loss. Various other symptoms may be present and may additionally involve the lungs, heart, muscles, or nervous system. The underlying cause of UCTD is unknown, but it is a type of autoimmune disease, which means that the immune system malfunctions and mistakenly attacks a person’s own healthy tissues. The diagnosis is made by ruling out other conditions that can cause the same symptoms, aided by blood and urine tests, and imaging studies such as X-ray, CT scan, or ultrasound. Treatment usually includes the use of non-steroidal anti-inflammatory drugs (NSAIDs), antimalarial drugs, and/or corticosteroids. People with photosensitivity may be helped by avoiding prolonged exposure to sunlight, and those with Raynaud phenomenon should avoid exposure to extremely cold temperatures.SOURCE: National Institutes of Health / National Center for Advancing Translational Sciences
Vasculitis is an inflammation of the blood vessels. It happens when the body’s immune system attacks the blood vessel by mistake. It can happen because of an infection, a medicine, or another disease. The cause is often unknown. Vasculitis can affect arteries, veins and capillaries. Arteries are vessels that carry blood from the heart to the body’s organs. Veins are the vessels that carry blood back to the heart. Capillaries are tiny blood vessels that connect the small arteries and veins.SOURCE: Medline Plus