Diseases Studied

A rare, multisystemic disorder affecting the mouth, genitals, skin, eyes, central nervous system (consisting of the brain and spinal cord), digestive tract, blood vessels, and joints. Symptoms include inflammatory ulcers around the mouth and genitals, skin lesions, eye inflammation, blurry vision, joint pain and swelling, aneurysms (weakened areas in artery walls), blood clots, diarrhea, headache, fever, stroke, poor balance, and confusion.

A rare disorder characterized by inflammation of the blood vessels of the central nervous system (brain and spinal cord). There are two forms. The primary form occurs without an underlying condition, while the secondary form is caused by underlying conditions such as autoimmune disorders or systemic infections. Symptoms include severe headaches, swelling of the brain, stroke, forgetfulness, confusion, vision problems, seizures, ataxia (lack of coordination), muscle weakness, and sensory disturbances.

A rare, autoimmune disorder in which a person's own body attacks itself via antibodies (immune defense proteins) in the blood that form abnormal protein complexes that thicken and clump together when exposed to cold temperatures. This process restricts blood flow to joints, muscles, and organs and causes blood vessel inflammation. Symptoms include joint pain, muscle weakness, purplish skin lesions, skin ulcers, hives, and necrosis (tissue death) of the extremities, especially the fingers and toes.

A rare disorder characterized by inflammation or necrosis (tissue death) of blood vessel walls and skin lesions. Skin lesions commonly come and go, affecting the back, hands, buttocks, lower extremities, and inner forearms. Symptoms include intense itching, skin ulceration, blisters, darkened spots, scarring, fever, joint and muscle pain, and malaise (general discomfort).

A rare, secondary disorder characterized by blood vessel inflammation, leading to blood vessel wall thickening, weakening, narrowing, or scarring. This disorder is caused by use of certain medications, such as illicit drugs or medications prescribed to treat specific bacterial infections, cancers, autoimmune (body attacking itself) disorders, or psychological disorders. Symptoms include skin rash, muscle and joint pain, malaise (general discomfort), and fever.

A rare, multisystemic disorder affecting the lungs, kidneys, digestive tract, and extremity nerves. It is characterized by the abnormal clustering of white blood cells called eosinophils in the blood and tissues, vasculitis (blood vessel inflammation), and formation of granulomas (inflamed nodular lesions). Symptoms include allergic reactions, asthma, lung abnormalities, dyspnea (difficulty breathing), coughing, wheezing, malaise (general discomfort), fever, muscle and joint pain, loss of appetite, and weight loss.

A rare disorder which is the most common blood vessel disorder affecting individuals over the age of 50. It is characterized by arteritis (inflammation of the medium and large-sized arteries in the body), particularly affecting the cranial (brain) arteries, especially the temporal arteries (arteries in the temples). Changes to affected artery walls over time result in poor blood circulation. Symptoms include headaches, visual disturbances, aneurysms (weakened areas in artery walls), stroke, fever, fatigue, malaise (general discomfort), depression, weight loss, and anemia (low red blood cells).

A rare, autoimmune (body attacking itself) disorder characterized by blood vessel inflammation, primarily affecting the lungs and kidneys. Symptoms include upper respiratory and ear infections, hearing loss, persistent runny nose and cough, nasal congestion, nosebleeds, sinus and lung inflammation, difficulty breathing, wheezing, vocal changes, fever, malaise (general discomfort), weight loss, loss of appetite, fatigue, muscle and joint pain, renal (kidney) disease, high blood pressure, leg swelling, and pleural effusion (excessive fluid accumulation in the lungs).

A rare, autoimmune (body attacking itself) disorder characterized by blood vessel inflammation, primarily affecting the lungs and kidneys. Symptoms include upper respiratory and ear infections, hearing loss, persistent runny nose and cough, nasal congestion, nosebleeds, sinus and lung inflammation, difficulty breathing, wheezing, vocal changes, fever, malaise (general discomfort), weight loss, loss of appetite, fatigue, muscle and joint pain, renal (kidney) disease, high blood pressure, leg swelling, and pleural effusion (excessive fluid accumulation in the lungs). A rare disorder characterized by inflammation of the wall of the aorta (the largest artery in the body which transports blood from the heart to the rest of the body). While most forms of aortic inflammation have identified systemic causes, the cause of this form is unknown. Imaging may reveal aortic aneurysms (weakened areas in artery walls) and abnormal aortic wall thickening. Typically, affected individuals are asymptomatic (without symptoms), while others have abdominal or back pain, fever, or pulsing abdominal masses.

A rare, immune system disorder characterized by accumulation of immunoglobulin A (a specific antibody protein) in small blood vessels. This causes inflammation and leakage of blood, affecting the skin, joints, digestive tract, kidneys, and, rarely, the nervous system and lungs. The most common symptom is purpura (a red or purple skin rash). Severe cases may lead to acute kidney injuries that progress to chronic kidney disease.

A rare disorder characterized by blood vessel inflammation, most commonly affecting the kidneys, lungs, nerves, joints, and skin. The cause of the disorder is poorly understood, but may occur due to gene mutations, infections, or autoimmune (body attacking itself) disorders. Symptoms include skin lesions, muscle and joint pain, fatigue, weakness, fever, sensory changes due to nerve damage, weight loss, leg swelling, dark urine, cough, difficulty breathing, and ear, eye, and sinus problems.

A rare, multisystemic disorder characterized by widespread blood vessel inflammation, weakening, and damage, specifically to small- and medium-sized arteries. The kidneys, heart, muscles, intestines, and nervous system are affected, causing high blood pressure, aneurysms (weakened areas in artery walls), blood clots, joint and muscle pain, kidney disease, and tissue damage or necrosis (tissue death) due to blocked blood flow.

A rare disorder characterized by inflammation of one or more arteries transporting blood from the heart to the body, including the aorta (largest artery) and pulmonary (lung) artery. Symptoms include malaise (general discomfort), muscle and joint pain, arterial narrowing or blockage, lightheadedness, syncope (fainting), absent pulses, aneurysms (weakened areas in artery walls), aphasia (speech problems), photophobia (light sensitivity), blindness, cool skin, muscle weakness, and problems measuring blood pressure.

A variant of cutaneous vasculitis characterized by small blood vessel inflammation, causing red, painful, raised patches (weals) on the skin that resembles urticaria (hives). There are two types: normocomplementaemic and hypocomplementaemic, indicating either normal or low levels of complement proteins (proteins that fight infection) in the blood. Symptoms include abdominal or chest pain, fever, joint and muscle pain, and angioedema (swelling of the skin or mucous membranes).

A term describing inflammation of the blood vessels (arteries, veins, or capillaries). When this inflammation occurs, it causes changes in the blood vessel walls, such as abnormal thickening, weakening, and narrowing which can progress to the point of occlusion (blood vessel blockage). Consequently, this results in lack of blood flow to tissues and organs supplied by affected vessels.