A genetic disorder that happens quite rarely and negatively affects the function of the immune system in children is called Wiskott-Aldrich syndrome (WAS). Those who develop this syndrome frequently experience infections, excessive bleeding, and eczema. As per studies, this is an X-linked condition. It means WAS affects males. However, there are some treatments that help reduce the symptoms and prevent serious complications.
This condition happens rarely and affects approximately 3 in every million people. In the U.S., roughly 5,000 people have this syndrome.
What is a WAS-related Disorder?
Sometimes, physicians may refer to WAS as a WAS-related condition. It affects immunity and is caused by a change in the WAS gene. For instance, X-linked thrombocytopenia is WAS-related. Healthcare professionals may also identify congenital neutropenia. This condition is present at birth (congenital), but it is not associated with a WAS change.
Symptoms
Generally, this syndrome causes three primary symptoms. For example:
- Immune deficiency – In such cases, white blood cells do not work properly, which causes the immune system to attack itself, causing multiple symptoms. As a result, people with this symptom may experience rheumatoid arthritis, lymphoma, leukemia, anemia, vasculitis, and other infections.
- Micorthrombocytopenia – When it occurs, the blood is not able to clot, which leads to excessive bleeding. It also may cause bruising, nosebleeds, bloody diarrhea, and a skin rash with small red dots (petechiae).
- Eczema – This is a skin disorder that causes dry and itchy patches of skin. It is also known as atopic dermatitis.
Additionally, infants with WAS may experience additional health problems. These include:
- Severe thrush
- Pneumonia
- Severe bacterial infections
- Myelodysplastic syndrome
Causes
This syndrome is caused by a mutation (change) of the WAS gene. It is located on the short arm of the X chromosome, and it is responsible for the protein that causes Wiskott-Aldrich syndrome. Furthermore, this abnormal protein is present in all of the blood cells.
However, this protein tells cells when to attach to other cells and tissues. This process is known as adhesion, and it helps the immune system fight against bacteria, viruses, and other germs. When this gene mutation occurs, the blood cells cannot attach to other cells and tissues, which negatively affects the immune system.
In people who develop congenital neutropenia, genetic changes cause monocytes and neutrophils to reduce their movement. As a result, the immunity does not release antibodies to fight off infections.
Can Wiskott-Aldrich Syndrome be Inherited?
Yes, because this disorder has an X-linked recessive pattern of inheritance, in which the abnormal gene can pass from both biological parents to their children. Normally, babies inherit one sex chromosome from each biological parent. For example, men have one X and one Y and women have two X chromosomes. This condition mostly affects males because the gene change negatively affects their only X chromosome.
While this genetic disorder has a pattern of inheritance, approximately 30% of all diagnosed WAS cases happen without a family history of the disease. Commonly, it occurs due to a new genetic mutation that often develops during pregnancy.
What Are The Potential Complications of Wiskott-Aldrich Syndrome?
Those who suffer from this genetic disorder may also experience some complications, especially without treatment. Check some examples below:
- Thrombocytopenia
- Excessive bleeding
- Atopic dermatitis (also called eczema)
- Viral or sinopulmonary infections
- Autoimmune disorders (including nephritis, rheumatoid arthritis, hemolytic anemia, and others)
- Certain types of cancer
- Lymphadenopathy
- Hepatomegaly
- Early death (usually happens when patients do not get treatment)
How to Prevent Wiskott-Aldrich Syndrome?
Nowadays, it is not possible to prevent this condition because experts do not fully understand why it occurs. However, you can perform some genetic tests before pregnancy to understand the risks.
Diagnosis
Physicians usually diagnose this condition during infancy or early childhood. They often perform a physical examination and some tests to confirm the condition and rule out others that cause similar symptoms. People who develop WAS usually experience bloody diarrhea, bruising, and unusual bleeding. Check below some tests often involved in the diagnosis of WAS:
- Genetic blood tests
- Peripheral blood smear
- A complete blood count (also known as CBC)
This health condition may become more apparent when it is not diagnosed during infancy. Furthermore, when your child shows symptoms of a weakened immune system (such as frequent infections), he/she may need additional testing.
Most people with WAS receive a vaccine that helps the immune system produce antibodies to fight against germs. However, a blood test can identify whether the vaccine works or not.
Treatment
Usually, doctors recommend the following treatments for people with this genetic disorder. Examples include:
- Blood-platelet transfusions (this treatment is used to treat bleeding complications)
- Topical medicines and over-the-counter (OTC) moisturizers to relieve eczema symptoms and complications
- Antiviral medicines and antibiotics to treat infections caused by the disease
- Antibody (immunoglobulin) infusions (it helps replace antibodies that are missing)
When a person with WAS develops severe or life-threatening complications, doctors may recommend the following treatments. For example:
- Stem cell transplant
- Gene therapy
In any case, doctors often recommend treatments to lessen the symptoms and complications and improve your quality of life.
Frequently Asked Questions
Is there a cure for Wiskott-Aldrich syndrome?
Yes, the only way to cure this condition is a stem cell transplant. However, it is not an option for everyone who develops Wiskott-Aldrich syndrome.
Is Wiskott-Aldrich syndrome fatal?
This genetic disorder can be fatal for people who do not undergo stem cell transplants. In such cases, the life expectancy is about 15 years after diagnosis. Death often occurs due to life-threatening complications caused by severe infections or cancer.
What is the difference between Wiskott-Aldrich syndrome and ataxia-telangiectasia?
While both are genetic disorders that affect the immune system function, ataxia-telangiectasia happens due to a mutation of the ATM gene. It also impacts coordination and movement. For more details, discuss it with your doctor.
What immune deficiency causes eczema?
There are some primary immunodeficiency syndromes that are often associated with eczema. For example, Hyper IgE syndrome (HIES), IPEX syndrome, and Wiskott-Aldrich syndrome. Additionally, a combination of immunodeficiency and deficiencies in certain genes may also cause severe eczema. If you have any other questions, ask your healthcare provider.
