Wiskott Aldrich Syndrome (WAS)
Wiskott Aldrich syndrome (WAS) is a genetic condition that affects blood cells and cells of the immune system. It is X-linked and as such females can be carriers of the condition but clinical symptoms occur almost exclusively in males. Individuals with this condition have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets).
Symptoms of WAS
Wiskott Aldrich syndrome (WAS) is characterized by an increased tendency to bleed due to low platelets, recurrent bacterial, viral, and fungal infections, and eczema of the skin. Patients with WAS also have an increased risk of developing autoimmune disease and have an increased risk of cancers, especially lymphoma or leukemia. The most common autoimmune diseases WAS patients develop are destruction of red blood cells or platelets, or development of blood vessel inflammation (vasculitis).
Diagnosis is suspected in any boy with unusual bleeding or bruising, or with abnormal platelet count or size. This may be confirmed by a platelet tests. Evaluation of the immune system includes drawing immunoglobulin levels. Immunoglobulin type G (IgG) is expected to be low, and IgE levels are frequently elevated. Testing for immune system response to vaccine yields a reduced response. A definitive diagnosis can be made with gene sequencing.
To raise the platelet count, high dose immune globulin replacement therapy is recommended. In the absence of a spleen, infections can be rapidly fatal so patients receive ongoing regular prophylactic antibiotics and immune globulin replacement therapy. Treatment for other symptoms include systemic steroids or immune globulin replacement therapy (for autoimmune disease), steroid ointments or moisturizing cream for eczema, bone marrow/stem cell transplant and gene therapy. Immune globulin therapy can be administered into the blood stream intravenously (IVIG). In the absence of bleeding problems, immune globulin therapy can also be administered under the skin subcutaneously (SCIG).
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