Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea (secondary to the thrombocytopenia). It is also sometimes called the eczema-thrombocytopenia-immunodeficiency syndrome in keeping with Aldrich's original description in 1954. It is caused by a defective gene on the X-chromosome that affects the production of platelets and antibodies.
Because an individual with one healthy copy of the gene will not develop the syndrome, almost all WAS patients are male. The first symptoms are usually bruising or small red dots on the skin. Eczema usually appears within the first month of life. Next come nosebleeds and bloody diarrhea from failure of the platelets to form clots to stop the bleeding. After that, the patient is usually succeptible to numerous infections. Other common symptoms are an enlarged spleen, malignancies of the blood such as leukemia, and associated autoimmune conditions.
The disease is usually confirmed with tests for immunoglobulin levels, which are unusually low.
Patients can suffer through a wide range of presentations of the disease. It may be mild and only presents with intermittent low platelet count. In the worst case, it will present with extremely low platelet counts plus an associated malignancy or autoimmune condition.
Treatment of the condition is difficult and is often focussed on dealing with symptoms and avoiding pharmaceuticals that can worsen the condition, such as aspirin. A splenectomy may prevent platelet counts from falling too low as the spleen treats the smaller platelets of WAS patients as non-functioning. Intravenous immunoglobulin should be administered for infections, and transfusions of blood and platelets are common.
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