Wiskott-Aldrich Syndrome (WAS)
What is Wiskott-Aldrich Syndrome?
Wiskott-Aldrich Syndrome (WAS) is an extremely rare, X-linked genetic disorder that typically affects males and is caused by a mutation in the WAS gene. It is a condition of the immune system that affects the production of white blood cells, platelets, and red blood cells. Males with WAS experience frequent infections, bleeding due to low platelets, and an increased risk of developing certain types of cancer.
Diagnosis of Wiskott-Aldrich Syndrome
Since WAS is so rare, it can be difficult to diagnose. When diagnosing WAS, a doctor will look for the following signs and symptoms:
- Frequent infections
- Low platelets
- Poor growth, in both body and head size compared to other children the same age
- Easy bruising
- Recurrent nose bleeds
- A Pew sign - a flat area on the top of the head
- Skin rashes, including eczema
- Diarrhea or constipation
If the doctor suspects WAS, they may perform a variety of tests such as blood tests, a skin biopsy, genetic testing, or an X-ray to confirm the diagnosis.
Treatment of Wiskott-Aldrich Syndrome
Treatment of WAS involves treating the symptoms, managing complications, and in some cases, a stem cell transplant. Treatments may include:
- Antibiotics and antivirals to treat infections
- Blood and platelet transfusions to treat low platelet count
- Immunoglobulin therapy to boost the immune system
- An allergen-free diet to reduce eczema flares
- Medications such as prednisone to reduce inflammation
- Stem cell transplantation, also known as hematopoietic stem cell transplant (HSCT)
It is important to remember that each individual case of WAS is unique and the treatment plan will be tailored to each individual’s needs.