Wiskott-Aldrich syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune deficiency), eczema (an inflammatory skin disorder characterized by abnormal patches of red, irritated skin), and a reduced ability to form blood clots. This condition primarily affects males.

Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in the number and size of blood cells involved in clotting (platelets). This platelet abnormality, which is typically present from birth, can lead to easy bruising, bloody diarrhea, or episodes of prolonged bleeding following nose bleeds or minor trauma. Microthrombocytopenia can also lead to small areas of bleeding just under the surface of the skin, resulting in purplish spots called purpura, or variably sized rashes made up of tiny red spots called petechiae. In some cases, particularly if a bleeding episode occurs within the brain, prolonged bleeding can be life-threatening.

Wiskott-Aldrich syndrome is also characterized by abnormal or nonfunctional immune system cells known as white blood cells. Changes in white blood cells lead to an increased risk of several immune and inflammatory disorders in people with Wiskott-Aldrich syndrome. These immune problems vary in severity and include an increased susceptibility to infection from bacteria, viruses, and fungi. People with Wiskott-Aldrich syndrome are at greater risk of developing autoimmune disorders, such as rheumatoid arthritis, vasculitis, or hemolytic anemia. These disorder occur when the immune system malfunctions and attacks the body's own tissues and organs. The chance of developing certain types of cancer, such as cancer of the immune system cells (lymphoma), is also increased in people with Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome is often considered to be part of a disease spectrum with two other disorders: X-linked thrombocytopenia and severe congenital neutropenia. These conditions have overlapping signs and symptoms and the same genetic cause.

ORPHANET DEFINITION A primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Point prevalence: 1-9 / 1 000 000; Europe; Value and class. Point prevalence: 1-9 / 1 000 000; France; Value and class. Prevalence at birth: 1-9 / 1 000 000; Switzerland; Value and class. Point prevalence: <1 / 1 000 000; Australia; Value and class.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormal platelet morphology · Very frequent (99-80%)

An anomaly in platelet form, ultrastructure, or intracellular organelles.

Bruising susceptibility · Very frequent (99-80%)

An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Chronic diarrhea · Very frequent (99-80%)

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

Chronic otitis media · Very frequent (99-80%)

Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.

Chronic pulmonary obstruction · Very frequent (99-80%)

An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.

Fever · Very frequent (99-80%)

Body temperature elevated above the normal range.

Immunodeficiency · Very frequent (99-80%)

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Internal hemorrhage · Very frequent (99-80%)

The presence of hemorrhage within the body.

Lymphopenia · Very frequent (99-80%)

A reduced number of lymphocytes in the blood.

Otitis media · Very frequent (99-80%)

Inflammation or infection of the middle ear.

Prolonged bleeding time · Very frequent (99-80%)

Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.

Recurrent respiratory infections · Very frequent (99-80%)

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

Sinusitis · Very frequent (99-80%)

Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.

Spontaneous hematomas · Very frequent (99-80%)

Spontaneous development of hematomas (hematoma) or bruises without significant trauma.

Other findings in the same source

From: Orphanet

Additional reported features include Thrombocytopenia (Very frequent (99-80%)); Abnormality of eosinophils (Frequent (79-30%)); Anemia (Frequent (79-30%)); Arrhythmia (Frequent (79-30%)); Autoimmunity (Frequent (79-30%)); Dyspnea (Frequent (79-30%)); Fatigue (Frequent (79-30%)); Hematemesis (Frequent (79-30%)); Hematochezia (Frequent (79-30%)); Hemolytic anemia (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Infancy; Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

X-linked

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Point prevalence: 1-9 / 1 000 000; Europe; Value and class. Point prevalence: 1-9 / 1 000 000; France; Value and class. Prevalence at birth: 1-9 / 1 000 000; Switzerland; Value and class. Point prevalence: <1 / 1 000 000; Australia; Value and class.

Which doctor should you see?

The suggested department for discussing Wiskott-Aldrich syndrome is Allergy and Immunology, with a allergist / clinical immunologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the history suggest an allergy, an immune problem or another explanation?
• How would any proposed allergy or immune test change care?
• Is an individual emergency plan needed, and who should understand it?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Wiskott-Aldrich syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.