Summary about Disease
Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder that primarily affects males. It is characterized by eczema, thrombocytopenia (low platelet count), immune deficiency, and bloody diarrhea. Individuals with WAS have difficulty forming blood clots, are prone to infections, and have an increased risk of developing autoimmune diseases and certain cancers.
Symptoms
Eczema: A chronic, itchy rash, often starting in infancy.
Thrombocytopenia: Low platelet count, leading to easy bruising and prolonged bleeding.
Immune deficiency: Increased susceptibility to bacterial, viral, and fungal infections.
Bloody diarrhea: Resulting from intestinal bleeding.
Other potential symptoms: Nosebleeds, skin infections, ear infections, autoimmune disorders (e.g., autoimmune hemolytic anemia), and increased risk of lymphoma and leukemia.
Causes
WAS is caused by mutations in the WAS gene, located on the X chromosome. This gene provides instructions for making a protein called Wiskott-Aldrich syndrome protein (WASP). WASP is essential for the proper functioning of blood cells, including platelets and immune cells. The *WAS* gene mutation means the WASP protein is either absent or dysfunctional, impairing these cells function
Medicine Used
Antibiotics: To treat bacterial infections.
Antiviral medications: To manage viral infections.
Intravenous immunoglobulin (IVIG): To boost the immune system.
Corticosteroids or other Immunosuppressants: To manage autoimmune complications.
Platelet transfusions: To control bleeding episodes.
Stem cell transplantation (bone marrow transplant): The only known cure.
Gene Therapy Considered new therapy but not widely accessible.
Is Communicable
No, Wiskott-Aldrich syndrome is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Avoid injuries: Due to the risk of bleeding, take precautions to prevent cuts and bruises.
Good hygiene: Practice frequent handwashing to minimize the risk of infection.
Vaccinations: Follow a modified vaccination schedule as recommended by a doctor (live vaccines may be contraindicated).
Avoid sick contacts: Minimize exposure to individuals with infections.
Monitor for signs of infection: Seek medical attention promptly if signs of infection develop (e.g., fever, cough, redness).
Medical alert bracelet: Wear a medical alert bracelet to inform healthcare providers about the condition.
How long does an outbreak last?
Wiskott-Aldrich Syndrome is not typically characterized by outbreaks. The eczema and other symptoms are generally chronic conditions that persist over time, though the severity can fluctuate. Infections can happen at any time.
How is it diagnosed?
Clinical evaluation: Based on the presence of characteristic symptoms (eczema, thrombocytopenia, immune deficiency).
Complete blood count (CBC): To assess platelet count and other blood cell parameters.
Immunoglobulin levels: To evaluate immune function.
WASP protein expression: Assessment of WASP protein in blood cells.
Genetic testing: To identify mutations in the WAS gene.
Timeline of Symptoms
Infancy: Eczema typically develops in the first few months of life. Thrombocytopenia is often present at birth or shortly thereafter.
Childhood: Recurrent infections become apparent, and bleeding problems persist.
Throughout life: Autoimmune complications and increased risk of cancer may develop over time.
Important Considerations
Genetic counseling: Essential for families with a history of WAS.
Early diagnosis and management: Crucial to improve outcomes.
Stem cell transplantation: The only curative option but involves significant risks.
Lifelong monitoring: Regular follow-up with a hematologist, immunologist, and dermatologist is necessary.
Psychological support: Important for patients and their families to cope with the challenges of living with WAS.