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Systemic Lupus Erythematosus

Lupus is an inflammatory disease that occurs when the body’s immune system attacks its own tissues and organs. Systemic Lupus Erythematosus (SLE) is the most common type of Lupus, and is among the most heritable of the common autoimmune diseases.

deCODEme can calculate your genetic risk for Systemic Lupus Erythematosus.

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Reaching a diagnosis of Lupus may take time as new symptoms appear.


If you have symptoms of Lupus, knowing your genetic risk may facilitate the complex diagnostic process.

Lupus attacks can vary from mild to severe

Lupus -The great imitator

Systemic Lupus Erythematosus is often called the “great imitator” because signs and symptoms may be vague, non-specific, and often mimic other disorders. Lupus symptoms characteristically come in flares ranging from mild to severe and can vary considerably from person to person. Almost all people with Lupus have joint pain and the majority develops arthritis. Early signs and symptoms of Lupus most often include fever, rashes, fatigue, and weight loss.

Depending on which body systems are affected, the signs and symptoms of Systemic Lupus Erythematosus may include:

  • Skin:
    • Butterfly-shaped rash over the cheeks
    • Other skin rashes, flat or raised anywhere on the body
    • Skin rashes in areas exposed to the sun (photosensitivity rashes)
    • Hair loss (alopecia), sometimes in spots or around the hairline
    • Sores in the mouth or nose lasting for more than a month
  • Joints:
    • Arthritis which can last for several weeks in multiple joints
  • Digestive system:
    • Abdominal discomfort or pain, diarrhea, anorexia, or nausea can occur when the intestines are affected by inflammation
  • Heart and lung:
    • Chest pain can occur if immune complexes cause an inflammatory response of the lining that surrounds the lungs (pleurisy) and the heart (pericarditis).
    • Inflammation can also occur in the heart itself (myocarditis and endocarditis) also causing chest pains or other symptoms.
  • Nervous system:
    • Seizures, strokes, and mental disorders (depression), when the inflammation affects the nervous system
  • Blood and blood vessels:
    • Low blood counts (anemia, low white blood cells, or low platelets) can occur when autoantibodies are produced against the cell surface antigens of the individual's own blood cells, including red blood cells, white blood cells, and platelets.
    • People who have a type of autoantibody called antiphospholipid antibodies have an increased risk of blood clots.
    • Blood vessels may become inflamed (vasculitis), affecting the way blood circulates through the body. People with Lupus are also at increased risk for atherosclerosis (hardening of the arteries).
    • Swelling (edema) in feet, legs, hands, and/or around eyes.
  • Kidneys:
    • About 50% of patients with Systemic Lupus Erythematosus develop kidney diseases, such as glomerulonephritis, usually from deposition of immune complexes and resulting inflammation in the kidney tissues. Inflammation of the kidneys (nephritis) can impair their ability to get rid of waste products and other toxins from the body effectively. Some people may notice dark urine and swelling around their eyes, legs, ankles, or fingers, but most often, the only indication of kidney disease is an abnormal urine or blood test.
  • Other symptoms and complications can range from fingers turning white and/or blue when cold (Raynaud’s phenomenon) to miscarriages in women with Lupus.

Criteria for diagnosing Systemic Lupus Erythematosus

Lupus symptoms can develop gradually, and disappear and reappear over the course of the disease, often making Lupus very difficult to diagnose. The American College of Rheumatology has published a list of criteria for a diagnosis of Systemic Lupus Erythematosus. The diagnosis is based on the presence of at least four of eleven of the typical characteristics of the disease.

Knowing your genetic risk may facilitate the diagnostic process

Reaching a diagnosis of Lupus may take time as new symptoms appear. It may take months or even years for doctors to piece together the symptoms to diagnose this complex disease accurately. In addition to a physical examination and the results of laboratory tests, doctors base their diagnosis on information about medical history, family history, and symptom description. The more detailed this information is, the more precisely a doctor can eliminate or consider other diseases with symptoms similar to Lupus.

Knowing your genetic risk of developing Lupus may increase your awareness of the possible symptoms of this disease and provide a physician with important additional information that may facilitate the complex diagnostic process.

This content was last reviewed on February 23, 2011.


Amy Doneen Nurse Practitioner - deCODEme customer

‘We have the ability to test someone’s genetic risk… and then make clinical decisions based on that genetic backdrop.’

Amy L. Doneen A.R.N.P.,
Nurse Practitioner

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