Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentPrognosisCopingFrequently Asked Questions
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Coping
Frequently Asked Questions
Wiskott-Aldrich syndrome is a rare genetic and immunodeficiency disorder. It prevents the body’simmune systemfrom properly protecting against infections and reduces the ability to form blood clots.
Usually diagnosed within the first year of life, babies and children with Wiskott-Aldrich syndrome experience abnormal bleeding episodes, more frequent infections, and an inflammatory skin condition known as eczema.
Wiskott-Aldrich syndrome is named after the physicians who first discovered it. In 1934, German pediatrician Dr. Alfred Wiskott identified three brothers with the signature symptoms.
Almost two decades later, American pediatrician Dr. R.A. Aldrich confirmed that the condition is an inherited genetic abnormality. Researchers officially discovered the mutated gene and its location in 1994.
Rasi Bhadramani / iStock / Getty Images
Wiskott-Aldrich Syndrome Symptoms
Wiskott-Aldrich symptoms usually start showing up anywhere from 6 months to 1 year of age, though as a genetic and primary immune deficiency condition, it’s technically present from birth.There are a few signature symptoms that will stand out in infants with Wiskott-Aldrich syndrome:
In addition, people with Wiskott-Aldrich syndrome have an increased risk for developing severe autoimmune disease (conditions where the immune system mistakenly attacks its own healthy cells) and have higher rates of cancers likelymphoma(a cancer of the immune system cells) andleukemia(blood cancer).
The severity of Wiskott-Aldrich syndrome and its symptoms can vary widely from person to person, even within the same family.
Genetic conditions like Wiskott-Aldrich syndrome happen because of an abnormality in thechromosomes, which is genetic material that make up our DNA. Specifically for Wiskott-Aldrich syndrome, the cause is amutationin what’s known as the WAS gene.
WAS GeneThe WAS gene provides instructions for making a protein found in blood cells. It plays an essential role in signaling white blood cells to form immune responses to the surrounding environment—protecting the body against infections.
WAS Gene
The WAS gene provides instructions for making a protein found in blood cells. It plays an essential role in signaling white blood cells to form immune responses to the surrounding environment—protecting the body against infections.
The mutation makes it so that the WAS genes cannot properly relay signals to white blood cells to protect the body with an immune response. This leads to the immune system issues related to Wiskott-Aldrich syndrome. In addition, white blood cells and platelets aren’t able to clot properly, causing the condition’s excessive bleeding episodes.
Inheritance Pattern
Wiskott-Aldrich syndrome affects people with a male (XY) chromosomal pattern because of the way it’sinherited: through what’s known as an X-linked pattern. This means the mutated gene is located on the X chromosome (a sex chromosome).
Because the male XY pattern has only one X chromosome, a mutation in just one copy of the gene is enough to cause the condition and its severe symptoms to occur.
Alternatively, people with a female chromosomal pattern (XX) have two X chromosomes. If there is a mutation present, they have a healthy X chromosome to fall back on.
It’s pretty rare for females with the gene mutation to develop the symptoms and complications of Wiskott-Aldrich syndrome. In these rare cases, the symptoms are highly variable. Females are the “carriers” of the mutation and can pass the defective gene on to their children.
WAS Gene Mutations
It’s worth noting milder forms of Wiskott-Aldrich syndrome exist, thanks to different mutations in the WAS gene. Some experts group Wiskott-Aldrich syndrome in with the following conditions under a broader category of “WAS-related disorders” because they all have the same underlying genetic cause:
Patients with milder forms of Wiskott-Aldrich syndrome won’t manifest the severe symptoms. Instead, they may present with more mild signs like low levels ofneutrophils(a type of white blood cell), bruising, or recurrent infections, and they may not get a correct diagnosis right away due to a lack of prominent symptoms.
So far, researchers have discovered more than 300 mutations in the WAS gene.
Early symptoms of Wiskott-Aldrich syndrome—such as excessive bleeding—may be mistaken for other conditions like the blood disorderidiopathic thrombocytopenic purpura(ITP) or even leukemia.
This is why your doctor will want to confirm a Wiskott-Aldrich diagnosis as quickly as possible, using two types of diagnostic tests that are performed in the laboratory:
One treatment option has been identified as potentially providing a permanent cure: abone marrow (stem cell) transplant. So far, experts say this is the most effective treatment for curing Wiskott-Aldrich syndrome.
It involves giving the patient new immune stem cells from a donor, allowing the patient’s bone marrow to produce healthy, long-lasting immune cells. The patient must be “matched” with a donor, which could include a bit of a wait time if the patient’s brother, sister, or other family member is not a match.
In addition, scientists and researchers are working on safely expanding gene therapy as a more widespread, promising cure for Wiskott-Aldrich patients.This process involves transplanting genetically modified stem cells from the patient’s own bone marrow and blood cells instead of from an outside donor.
As clinical trials are underway, the Boston Children’s Hospital is one of the only medical facilities in the United States to offer this experimental therapy for Wiskott-Aldrich syndrome.
Vaccine Complications
Because Wiskott-Aldrich patients have compromised immune systems, experts recommend they do not receivelive virus vaccinessuch as the measles, mumps, and rubella (MMR) vaccine.These vaccines contain an active (but weakened) virus, so there’s a potential they may cause infection in immunocompromised people.
On the other hand, inactivated vaccines—such aspneumococcal vaccines—can usually be given safely to Wiskott-Aldrich patients. Routine vaccines that people with Wiskott-Adrich are recommended to receive include the pneumococcal vaccine and meningococcal vaccine.
But keep in mind they may not provide the full protection people with normal immune functions receive. This is because people with immune deficiency disorders like Wiskott-Aldrich syndrome do not have normal protective antibody reactions to vaccines, so the response may not be as strong.
The earlier the diagnosis for Wiskott-Aldrich syndrome, the sooner treatment can begin to avoid further serious and potentially fatal complications.
With the inclusion of bone marrow transplantation as a treatment option, outcomes for Wiskott-Aldrich syndrome patients have improved greatly, allowing a normal life expectancy. Without any treatment, a patient’s life expectancy can be cut short.
Additionally, Wiskott-Aldrich syndrome can take a toll on quality of life for the patient and family—affecting emotional, social, and cognitive functioning. But the good news is that some research has shown that patients with a bone marrow transplant reported better quality of life compared to those who had not received the treatment.
Know that your medical care team is available to help answer any questions you may have about treatment outcomes, in addition to providing suggestions for improving quality of life for the patient and family.
Dealing with a Wiskott-Aldrich syndrome diagnosis can be difficult, devastating, and frustrating for families. It’s helpful to know you don’t have to navigate this journey alone. Organizations like theWiskott-Aldrich Foundationprovide families with the educational and community support needed to improve understanding and awareness for this extremely rare condition.
Summary
A Word From Verywell
Symptoms like excessive bleeding and serious infections in babies and young children are scary for any parent to experience. Stay informed and actively involved with your child’s healthcare team. Early diagnosis and treatment lead to better outcomes.
Experts have made huge leaps in identifying bone marrow transplants as an effective, lifesaving treatment. Additionally, gene therapy as a potentially promising treatment on the horizon is a surely encouraging possibility for the future.
What is the survival rate of children with Wiskott-Aldrich syndrome?
Wiskott-Aldrich syndrome outcomes and survival rates have made great strides over the past few decades. What was once considered to be a fatal disorder with a life expectancy of up to three years has turned into a treatable, manageable condition—with the right treatment and early intervention.
With a bone marrow transplant, Wiskott-Aldrich syndrome patients can be expected to survive a relatively normal lifespan—given there are no complications, and particularly if the transplant is done before the age of 2.Without a bone marrow transplant, life expectancy can decrease significantly.
Why do males develop Wiskott-Aldrich syndrome?
Simply speaking, males develop Wiskott-Aldrich syndrome because of where the gene mutation is located—on the X chromosome. People born with female biology have two X chromosomes, so if they carry a defect of the Wiskott-Aldrich syndrome gene in one of their X chromosomes, they don’t develop the disease because they have another healthy X chromosome to rely on.
Because people born with male biology have only one X chromosome, if they inherit this from their mother, they will get the disease.
Can tests detect Wiskott-Aldrich syndrome before birth?
Yes, prenatal testing can detect the WAS gene mutation that causes Wiskott-Aldrich syndrome. A prenatal diagnosis can be life-saving, so this type of genetic testing is recommended for families carrying known mutations of the WAS gene before pregnancy or birth.
It allows parents the option to consider a cesarean (C-section) delivery to help avoid excessive bleeding at birth, and it can also help parents plan for early treatment measures.
18 Sources
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