What is Wiskott Aldrich Syndrome?
Wiskott-Aldrich Syndrome is an extremely rare but potentially life threatening pathological condition found in children, usually identified in boys. This condition is characterized by the affected child having an incredibly poor immune system.
The immune system of the body is the defense mechanism of the body and helps in fighting off infections and other invading pathogens. If the immune system is poor then the defense mechanism of the body collapses and the child is prone to frequent infections and other illnesses.
Another prominent feature for Wiskott-Aldrich Syndrome is the inability of the body to produce enough platelets for normal functioning of the body. A boy affected with Wiskott-Aldrich Syndrome will tend to have frequent and profuse bleeding even due to small scrapes and bruises which is extremely difficult to stop.
Atopic dermatitis is yet another feature of Wiskott-Aldrich Syndrome. Additionally, children with Wiskott-Aldrich Syndrome are at an increased risk for developing conditions like thrombocytopenia and neutropenia, arthritis, inflammatory bowel disease, nephritis, vasculitis, and certain forms of cancers as a result of Wiskott-Aldrich Syndrome.
What are the Causes of Wiskott Aldrich Syndrome?
The root cause for the development of Wiskott-Aldrich Syndrome is mutation in gene WAS which functions by producing proteins called WASP protein. This protein plays a vital role in the development of the immune system of the body. This protein also facilitates prevention of excessive bleeding which are the prominent features of Wiskott-Aldrich Syndrome.
What are the Symptoms of Wiskott Aldrich Syndrome?
The characteristic presentation of Wiskott-Aldrich Syndrome may be observed since the birth of the child and by the time the child reaches one year of his life. Some of the symptoms of Wiskott-Aldrich Syndrome are:
- Frequent and easy bleeding through the nose, gums, bloody stools,
- Easy bruising
- Petechiae
- Frequent infections
- Atopic dermatitis
- Anemia due to blood loss
- Arthritis at a very early age
- Inflammatory bowel disease
- Vasculitis.
How is Wiskott Aldrich Syndrome Diagnosed?
The presence of easy bruising and bleeding just after birth of the child tends to point towards a diagnosis of Wiskott-Aldrich Syndrome. Additionally, if the child has eczema and is prone to frequent infections also points towards the diagnosis of Wiskott-Aldrich Syndrome.
To confirm the diagnosis, blood tests may be performed which will tend to show abnormalities specific to the diagnosis of Wiskott-Aldrich Syndrome. The blood tests will also show an abnormally low platelet count which is a characteristic feature of Wiskott-Aldrich Syndrome.
The levels of the immunoglobulins will also be low which will point towards a deficient immune system. Genetic testing may also be done also which will clearly show mutations in the WAS gene which will confirm the diagnosis of Wiskott-Aldrich Syndrome.
How is Wiskott Aldrich Syndrome Treated?
The frontline treatment for children with Wiskott-Aldrich Syndrome is antibiotics to fight infections. Frequent blood transfusions will be required for children with Wiskott-Aldrich Syndrome as they are not able to make enough platelets required by the body for adequate functioning.
For cases of thrombocytopenia as a result of Wiskott-Aldrich Syndrome steroids and immune-globulins may be given to treat the condition. Topical creams are recommended for treatment of eczema.
In some cases, the spleen of the children may have to be removed to treat thrombocytopenia. Bone marrow transplantation has also been shown to be effective in treatment of this condition, especially when done in boys under five years of age as a mode of treatment for Wiskott-Aldrich Syndrome.
Prognosis & Life Expectancy of Child with Wiskott Aldrich Syndrome
The overall prognosis for children with Wiskott-Aldrich Syndrome is extremely poor as the immune system of such children is significantly impaired. The average life span for such children is maximum up to 10 years of age.
Such children mostly succumb to excessive blood loss as a result of bleeding or an infection. In some cases, children may survive up to teenage years but ultimately fall to conditions like certain forms of cancers, vasculitis, or kidney disease caused by Wiskott – Aldrich syndrome.
