How do I know if I have Wiskott-Aldrich syndrome?

Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder that primarily affects the immune system and blood clotting. It is characterized by a triad of symptoms including eczema, low platelet count (thrombocytopenia), and recurrent infections.

Eczema: One of the key signs of Wiskott-Aldrich syndrome is the presence of eczema, a chronic skin condition. Eczema typically appears as red, itchy, and inflamed patches on the skin. It commonly affects the face, hands, and feet, but can occur in other areas as well.

Thrombocytopenia: Another important feature of Wiskott-Aldrich syndrome is low platelet count. Platelets are blood cells responsible for clotting, and their reduced numbers can lead to easy bruising, nosebleeds, and prolonged bleeding after injuries or surgeries.

Recurrent infections: Individuals with Wiskott-Aldrich syndrome are prone to frequent and severe infections. This is because the immune system, which normally fights off pathogens, is compromised in people with this condition. Recurrent ear infections, sinusitis, pneumonia, and skin infections are common.

Aside from the triad of symptoms, there are other signs that may indicate the presence of Wiskott-Aldrich syndrome:

• Autoimmune disorders: Patients with WAS may develop autoimmune conditions such as autoimmune hemolytic anemia or vasculitis.


• Lymphoma: There is an increased risk of developing lymphoma, a type of cancer affecting the lymphatic system, in individuals with Wiskott-Aldrich syndrome.


• Family history: If there is a family history of Wiskott-Aldrich syndrome or unexplained deaths in male family members due to bleeding or infections, it may suggest a genetic predisposition to the condition.

If you suspect that you or someone you know may have Wiskott-Aldrich syndrome, it is crucial to consult with a healthcare professional, preferably an immunologist or hematologist. They will perform a thorough evaluation, including a detailed medical history, physical examination, and specialized laboratory tests to confirm the diagnosis.

Early diagnosis of Wiskott-Aldrich syndrome is essential for appropriate management and treatment. Treatment options may include immunoglobulin replacement therapy, medications to boost platelet count, and in severe cases, stem cell transplantation.