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What is Wiskott-Aldrich Syndrome?

By Steve R.
Updated Mar 03, 2024
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Wiskott-Aldrich syndrome, also known as eczema-thrombocytopenia-immunodeficency syndrome, is a rare disease that disrupts the blood cells and immune system in mostly males of all backgrounds. A serious inherited condition that can cause death, the syndrome is characterized by a significantly low platelet count, frequent infections, and skin inflammation. While the condition also increases the risk for leukemia and lymphoma, Wiskott-Aldrich syndrome is treatable.

Caused by a mutation in the blood cells and immune cells, Wiskott-Aldrich syndrome affects approximately between 1 and 10 births per million across the globe. A person suffering from this condition has a disturbance with the protein responsible for transmitting signals from the cell surface to the actin cytoskeleton, a network of fibers that compose the cell’s basic makeup. Mutations cause cells to have difficulty growing properly and attaching to other cells.

The gene related to Wiskott-Aldrich syndrome is found on the X chromosome, a sex chromosome. Males are more prone to the disease because they only need one of the distorted X chromosomes to inherit the condition. In order for a female to inherit the syndrome, she would need to receive two distorted X chromosomes.

With a low count of platelets, a person with the disorder is prone to easy bruising and bleeding because their lack of platelets causes the body to struggle against controlling bleeding. Bleeding in the skin may result in tiny blue and red spots that look like bruises. The low level of platelets also leads to bloody bowel movements, bloody gums, and lingering nose bleeds. More seriously, a person may develop brain hemorrhaging, and infants may be required to wear a helmet to guard against head injuries until platelet levels increase.

With a compromised immune syndrome, an individual with the disorder is also susceptible to a host of infections. A person may get minor illnesses such as ear infections, respiratory infections, and sinusitis. Not as common, an individual may develop more severe diseases such as blood poisoning and meningitis.

Another classic symptom of the syndrome is eczema, a severe skin inflammation. The inflammation can occur all over a person’s body. The eczema causes a person to itch so much, he may even scratch himself while he is sleeping. Often times a person will scratch himself until he bleeds.

Wiskott-Aldrich syndrome causes havoc with the immune system and can lead to inflammation of the blood vessels in internal organs. Inflammation is often connected with fever and rashes. Another immune disorder that may arise is anemia, in which a person’s red blood cells are killed by antibodies.

While the disorder is potentially life threatening, a person may still lead a healthy and productive life. One of the most effective treatment methods is a donor marrow transplant if performed before the age of 6. Treatment often involves iron supplements to protect against blood loss. In more serious cases, platelet transfusions and spleen removal surgery may be considered.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
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