Wiskott-Aldrich syndrome is a rare, inherited disease that destroys blood cells and the immune system in most males. It is caused by a mutation in blood cells and immune cells and affects about 1-10 births per million worldwide. Symptoms include low platelet counts, frequent infections, inflammation of the skin, and an impaired immune system. Treatment includes donor marrow transplantation, iron supplements, platelet transfusions, and surgery.
Wiskott-Aldrich syndrome, also known as eczema-thrombocytopenia-immunodeficiency syndrome, is a rare disease that destroys blood cells and the immune system in most males of all backgrounds. A serious inherited condition that can cause death, the syndrome is characterized by significantly low platelet counts, frequent infections, and inflammation of the skin. While the condition also increases the risk of leukemia and lymphoma, Wiskott-Aldrich syndrome is treatable.
Caused by a mutation in blood cells and immune cells, Wiskott-Aldrich syndrome affects about between 1 and 10 births per million worldwide. A person suffering from this condition has a disorder with the protein responsible for transmitting signals from the cell surface to the actin cytoskeleton, a network of fibers that make up the basic structure of the cell. The mutations cause cells to have difficulty growing properly and attaching to other cells.
The gene related to Wiskott-Aldrich syndrome is located 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. For a female to inherit the syndrome, she would need to get two distorted X chromosomes.
With a low platelet count, a person with the disorder is prone to easy bruising and bleeding because their lack of platelets causes the body to struggle to control the bleeding. Skin bleeding can result in tiny blue and red spots that look like bruises. Low platelets also lead to bloody bowel movements, bleeding gums, and persistent nosebleeds. More seriously, a person can develop a brain hemorrhage and children may be required to wear a helmet to protect against head injuries until platelet levels rise.
With an impaired immune syndrome, an individual with the disorder is also susceptible to a range of infections. A person can get minor illnesses such as ear infections, respiratory infections, and sinusitis. Not as common, an individual can develop more serious illnesses such as blood poisoning and meningitis.
Another classic symptom of the syndrome is eczema, a severe inflammation of the skin. Inflammation can occur throughout a person’s body. Eczema makes a person itch so much that they can even scratch while sleeping. Often a person scratches himself until he bleeds.
Wiskott-Aldrich syndrome wreaks havoc with the immune system and can lead to inflammation of blood vessels in internal organs. Inflammation is often linked to fever and rashes. Another immune disorder that can arise is anemia, in which a person’s red blood cells are killed by antibodies.
Although the disorder is potentially life-threatening, a person can still lead a healthy and productive life. One of the most effective methods of treatment is donor marrow transplantation, if performed before the age of 6. Treatment often involves iron supplements to protect against blood loss. In severe cases, platelet transfusions and surgery to remove the spleen may be considered.
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