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Rare autoimmune disease similar to lupus

Systemic lupus erythematosus is a chronic inflammatory connective tissue disorder that can involve joints, kidneys, skin, mucous membranes, and blood vessel walls.

About 70 to 90% of people who have lupus are women of child-bearing age, but children (mostly girls), older men and women, and even newborns can also be affected. Lupus occurs in all parts of the world but may be more common among blacks and Asians.

The cause of lupus is usually not known. Occasionally, the use of certain drugs (such as hydralazine and procainamide, which are used to treat heart conditions, and isoniazid, which is used to treat tuberculosis) can cause lupus. Drug-induced lupus usually disappears after the drug is stopped.

The number and variety of antibodies that can appear in lupus are greater than those in any other disorder. These antibodies, which are the underlying physiologic problem in lupus, along with other unknown factors, may sometimes determine which symptoms develop. However, the levels of these antibodies may not always be proportional to the person's symptoms.

Discoid lupus erythematosus is a form of lupus that affects only the skin. In this condition, raised round rashes occur, sometimes progressing to some loss of the skin with scarring and hair loss in affected areas. The rash clusters on light-exposed areas of the skin, such as the face, scalp, and ears. Sometimes a rash or sores also affect the mucous membranes, especially in the mouth. In 10% of people, manifestations of systemic lupus—for example, those affecting the joints, kidneys, and brain—may occur but are generally mild.

Subacute cutaneous lupus erythematosus is a form of lupus that involves mostly the skin, causing various rashes that are widespread, recur, and may worsen with exposure to sunlight. The arms, face, and trunk are most often involved. Scarring is uncommon. People may have fatigue and joint pains but usually do not have the serious damage to internal organs that can occur in SLE.


Symptoms vary greatly from person to person. Symptoms may begin suddenly with fever, resembling a sudden, severe (acute) infection. Or symptoms may develop gradually over months or years with episodes (called flare-ups) of fever, feeling unwell, or any of the symptoms discussed below alternating with periods when symptoms are absent or minimal. Most people with lupus have mild symptoms affecting mostly the skin and joints.

Migraine-type headaches, epilepsy, or severe mental disorders (psychoses) may be the first abnormalities that are noticed. Eventually, however, symptoms may affect any organ system.

Joint problems:

Joint symptoms, ranging from intermittent joint pains (arthralgias) to sudden inflammation of multiple joints (acute polyarthritis), occur in about 90% of people and may exist for years before other symptoms appear. In long-standing disease, marked joint deformity may occur (Jaccoud arthropathy) but is rare. However, joint inflammation is generally intermittent and usually does not damage the joints.

Skin and mucous membrane problems:

Rashes include a butterfly-shaped redness across the nose and cheeks (malar butterfly rash); raised bumps or patches of thin skin; and flat or raised red areas on exposed areas of the face and neck, upper chest, and elbows. Blisters and skin ulcers are rare, although ulcers do commonly occur on mucous membranes, particularly on the roof of the mouth, on the inside of the cheeks, on the gums, and inside the nose. Generalized or patchy loss of hair (alopecia) is common during flare-ups. Mottled red areas on the sides of the palms and up the fingers, redness and swelling around the nails, and flat, reddish purple blotches between the knuckles on the inner surfaces of the fingers also may occur. Purplish spots (petechiae) may occur because of bleeding in the skin as a result of low platelet levels in the blood. Sensitivity to sunlight (photosensitivity) occurs in some people with lupus, particularly fair-skinned people.

Lung problems:

It is common for people with lupus to feel pain when breathing deeply. The pain is due to recurring inflammation of the sac around the lungs (pleurisy), with or without fluid (effusion) inside this sac. Inflammation of the lungs (lupus pneumonitis), resulting in breathlessness, is rare, although minor abnormalities in lung function are common. Life-threatening bleeding into the lungs may rarely occur. Blockage of arteries in the lung caused by blood clots (thrombosis) can also occur.

Heart problems:

People with lupus may have chest pain due to inflammation of the sac around the heart (pericarditis). More serious but rare effects on the heart are inflammation of the walls of the coronary arteries (coronary artery vasculitis), which can lead to angina (see see Angina), and inflammation of the heart muscle (myocarditis), which can lead to heart failure (see see Heart Failure). The valves of the heart can rarely be involved and may need to be surgically repaired. People are at increased risk of coronary artery disease.

Lymph node and spleen problems:

Widespread enlargement of the lymph nodes is common, particularly among children, young adults, and blacks of all ages. Enlargement of the spleen (splenomegaly) occurs in about 10% of people.

Nervous system problems:

Involvement of the brain (neuropsychiatric lupus) can cause headaches, mild impairment of thinking, personality changes, stroke, seizures, severe mental disorders (psychoses), or a condition in which a number of physical changes may occur in the brain, resulting in disorders such as dementia. The nerves in the body or spinal cord may also be damaged.

Kidney problems:

Kidney involvement may be minor and without symptoms or may be relentlessly progressive and potentially fatal. People may develop kidney failure that requires dialysis. The kidneys can be affected at any time and may be the only organ affected by lupus. The most common results of kidney impairment are high blood pressure and protein in the urine that leads to swelling (edema) in the legs.

Blood problems:

The numbers of red blood cells, white blood cells, and platelets may decrease. Platelets assist in blood clotting, so if these numbers decrease greatly, bleeding may occur. Also, and for other reasons, the blood may clot too easily, which accounts for many of the problems that can affect other organs (such as strokes and blood clots to the lungs or recurrent miscarriages).

Gastrointestinal tract problems:

People may have nausea, diarrhea, and vague abdominal discomfort. The occurrence of these symptoms may be the forewarning of a flare-up. Impairment of blood supply to various parts of the gastrointestinal tract may result in more severe abdominal pain, damage to the liver or pancreas (pancreatitis), or a blockage or tear (perforation) of the gastrointestinal tract.

Pregnancy problems:

Pregnant women have a higher-than-normal risk of miscarriage and stillbirth. Flare-ups are common during pregnancy or immediately after delivery.


Doctors suspect lupus mainly on the basis of the person's symptoms and findings during a careful physical examination, particularly in a young woman. Doctors base the diagnosis on physical examination results and on whether the person has a number of criteria or kidney inflammation (nephritis) that has been proved by a biopsy (removal of kidney tissue for examination and testing) and certain antibodies in the blood.

Nonetheless, because of the wide range of symptoms, distinguishing lupus from similar diseases can be difficult.

Rare brain disorder suspected in death.(Health)(Fatal illness: Doctors say Creutzfeldt-Jakob Disease may have killed Jerry Ray Collins.): An article from: The Register-Guard (Eugene, OR)
Book (The Register Guard)

Provinces and territories talk health care  — Canada NewsWire
Participating provincial and territorial health ministers discussed the significant challenges they face in providing new drug therapies to treat rare diseases.

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