Wiskott-Aldrich Syndrome
What is Wiskott-Aldrich Syndrome?
Wiskott-Aldrich Syndrome is a rare genetic disorder that affects the immune system and blood clotting. It occurs when a specific gene on the X chromosome does not work correctly. This gene makes a protein that immune cells and platelets need to function properly.
The condition primarily affects males because they have only one X chromosome. People with Wiskott-Aldrich Syndrome have low platelet counts, and their platelets are unusually small. Platelets are blood cells that help form clots to stop bleeding. The syndrome also weakens the immune system, making it harder to fight infections.
Wiskott-Aldrich Syndrome usually appears in early childhood, often in the first year of life. Symptoms range from mild to severe depending on how much the gene mutation affects cell function. Early detection through blood testing helps doctors monitor the condition and start treatment quickly.
Symptoms
- Easy bruising or bleeding that is hard to stop
- Tiny red or purple dots on the skin called petechiae
- Bloody diarrhea or blood in stool
- Eczema or itchy, dry, inflamed skin patches
- Frequent infections including ear infections, pneumonia, and sinus infections
- Nosebleeds that happen often or last a long time
- Small platelet size on blood tests
- Low platelet count below 70,000 per microliter
Most children with Wiskott-Aldrich Syndrome show symptoms in their first year of life. The bleeding problems often appear first, followed by eczema and recurrent infections as the immune system weakens over time.
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Causes and risk factors
Wiskott-Aldrich Syndrome is caused by mutations in the WAS gene located on the X chromosome. This gene provides instructions for making a protein that immune cells and platelets need to function. When the gene is mutated, cells cannot form their structure properly or communicate with other cells. The condition follows an X-linked recessive inheritance pattern, which means it mainly affects males. Females can be carriers and may pass the gene to their children.
The syndrome is not caused by anything parents did or did not do during pregnancy. Risk factors include having a family history of the condition or being male with a mother who carries the gene mutation. About one-third of cases happen from new mutations with no family history. Boys born to carrier mothers have a 50 percent chance of inheriting the condition.
How it's diagnosed
Doctors diagnose Wiskott-Aldrich Syndrome through blood tests that measure platelet count and size. A complete blood count reveals low platelet numbers, typically below 70,000 per microliter. Special testing shows that platelets are smaller than normal, which is a key sign of the condition. Blood tests also measure lymphocyte levels, which often drop over time as the immune system weakens.
Rite Aid offers blood testing that includes platelet count and lymphocyte measurements in our flagship panel. These biomarkers help detect and monitor Wiskott-Aldrich Syndrome. Genetic testing confirms the diagnosis by identifying mutations in the WAS gene. Doctors may also test immune system function and check for antibody production problems.
Treatment options
- Avoid activities with high risk of bleeding or injury
- Treat eczema with gentle skin care and moisturizers as recommended by doctors
- Prevent infections with good hygiene and avoiding sick contacts
- Take antibiotics to prevent bacterial infections
- Receive immunoglobulin replacement therapy to boost immune function
- Use platelet transfusions during severe bleeding episodes
- Consider stem cell or bone marrow transplant for a potential cure
- Avoid aspirin and ibuprofen which can increase bleeding risk
- Get regular blood tests to monitor platelet and lymphocyte levels
- Work with a hematologist and immunologist for specialized care
Concerned about Wiskott-Aldrich Syndrome? Get tested at Rite Aid.
- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Wiskott-Aldrich Syndrome is a rare genetic disorder that affects the immune system and blood clotting. It is caused by mutations in the WAS gene on the X chromosome. The condition leads to low platelet counts, small platelets, eczema, and frequent infections. It primarily affects males and usually appears in the first year of life.
The first signs are often easy bruising, bloody diarrhea, or petechiae in infancy. These bleeding problems happen because platelet counts are low. Eczema typically develops soon after, followed by recurrent ear infections, pneumonia, or other infections. Most symptoms appear within the first year of life.
The syndrome follows an X-linked recessive inheritance pattern. Males with the mutated gene on their X chromosome will have the condition. Females with one mutated gene are carriers and usually do not have symptoms. Boys born to carrier mothers have a 50 percent chance of inheriting the condition.
A complete blood count measuring platelet count and size is the key screening test. Platelet counts below 70,000 per microliter with small platelet volume suggest the condition. Lymphocyte counts are also measured because they drop over time. Genetic testing of the WAS gene confirms the diagnosis.
Stem cell transplant or bone marrow transplant can cure the condition by replacing faulty immune cells. This treatment works best when done early in life before serious infections or complications develop. Without a transplant, treatment focuses on managing symptoms and preventing infections. Gene therapy is being studied as another potential cure.
The WAS gene mutation weakens immune cells including T lymphocytes and B lymphocytes. These cells cannot fight bacteria, viruses, and fungi effectively. Lymphocyte numbers decrease over time, making the immune deficiency worse. This leads to frequent and sometimes severe infections throughout life.
Regular blood testing is essential to monitor platelet and lymphocyte levels. Most doctors recommend testing every few months or more often if symptoms worsen. Monitoring helps catch complications early and guides treatment decisions. Rite Aid offers convenient testing at Quest Diagnostics locations nationwide.
Serious bleeding in the brain or other organs can happen due to low platelets. Severe infections including pneumonia and bloodstream infections are common. Some people develop autoimmune disorders where the immune system attacks the body. There is also an increased risk of certain blood cancers and lymphomas.
Females rarely have the full syndrome because they have two X chromosomes. If one X chromosome has the mutation, the other usually compensates. Very rare cases occur when a female has two mutated copies or certain chromosomal patterns. Most affected females are carriers who can pass the gene to their children.
Life expectancy depends on disease severity and treatment. Without stem cell transplant, severe cases may lead to life-threatening bleeding or infections in childhood. Milder cases with good medical care can survive into adulthood. Stem cell transplant significantly improves survival and quality of life when successful.