Pediatric Wiskott-Aldrich Syndrome Follow-up

Updated: Apr 03, 2019
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Follow-up

Further Inpatient Care

In general, admit a patient with Wiskott-Aldrich syndrome (WAS) with bleeding or pulmonary infection because the extent of bleeding may be difficult to ascertain or bleeding may be difficult to control.

Similarly, infections such as pneumonia may be accompanied by sepsis or require respiratory support; inpatient management is usually wise.

The patient's risk for bleeding and the presence of any chronic illness complicate diagnosis and treatment of malignancies.

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Transfer

Because any primary immunodeficiency disease is associated with a great complexity of medical problems, most clinical immunologists strongly think an immunologist should manage these patients. High early mortality rates and a high rate of complications in Wiskott-Aldrich syndrome suggest frequent monitoring by a clinical immunologist is essential.

Transfers are most likely to a bone marrow transplantation unit for stem cell reconstitution. These units customarily provide social services and psychological support for the patient and family in addition to the requisite medical care.

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Deterrence/Prevention

Families carrying known mutations in the WASP gene should have prenatal diagnosis using mutation analysis. Identifying an affected infant in utero allows consideration of caesarian delivery to avoid bleeding at birth. Most importantly, prenatal diagnosis allows consideration of early stem cell reconstitution and identification of a donor as early as possible.

A critical point to remember is that platelet count alone does not establish the diagnosis of Wiskott-Aldrich syndrome in all infants; mean platelet volume (MPV) must be assessed. Immune functions may not show a classic pattern, making input from a clinical immunologist essential for accurate identification. In some cases, only determination of DNA mutational analysis allows discrimination among Wiskott-Aldrich syndrome, the more minor disorder of X-linked thrombocytopenia, and a non–Wiskott-Aldrich syndrome diagnosis.

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Complications

Complications from bleeding and infection now have decreased because of better recognition and prompt intervention. Most immune cytopenias can also be treated effectively.

Chronic renal disease has become better recognized and must be considered, especially in an older child or young adult with a history of hematuria accompanying acute (often viral) infections.

Malignancies respond poorly to conventional therapy, and bone marrow transplantation in the presence of malignancy has failed.

Complications from bone marrow and other stem cell reconstitution procedures are a significant problem. These complications, largely because of graft versus host disease (GVHD), include infections resulting from immune dysfunction related to GVHD, chronic dermatitis, chronic pulmonary disease, and neurologic impairment. GVHD-related disorders are well-recognized problems in patients with Wiskott-Aldrich syndrome. Minor issues after successful reconstitution have included donor-transmitted allergic rhinitis and even such changes as obesity. These minor problems can cause significant emotional turmoil for both patient and donor.

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Prognosis

About one fourth of patients who do not receive stem cell reconstitution die from bleeding, another fourth from malignancies, and the remaining 50% from infections. Average age of surviving patients with Wiskott-Aldrich syndrome in 1994 was 11 years, whereas death during the 1960s occurred within 4 years. More recent studies show average age of survival to be around 15 years. Autoimmune disease is a poor prognosis factor in these patients and should be treated promptly. [48]

Hematopoietic stem cell transplantation is the most reliable curative approach for patients with HLA-matched family or unrelated donors. [49]  The outlook for successfully transplanted patients is much more optimistic; the first patient to receive complete immunologic reconstitution after a 1968 bone marrow transplantation still survives without immunologic or clinical abnormalities.

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Patient Education

As with any patient who has an immune deficiency, the patient and family must seek immediate medical care at the slightest indication of an infection. This issue is critical for the splenectomized patient with Wiskott-Aldrich syndrome who has a high risk of dying from overwhelming postsplenectomy sepsis, usually caused by S pneumoniae infection. Bleeding (eg, epistaxis, into joints, progressive hematomas) must be recognized and treated. Patient and family must be made aware of the risk for complications, including specific autoimmune disorders and malignancies.

An important resource for education and support for patients and families with any primary immunodeficiency disease is the Immune Deficiency Foundation (some states have local chapters).

Immune Deficiency Foundation

25 W Chesapeake Ave, Suite 206

Towson, MD 21204

Consultation calls: 1-877-666-0866

The Jeffrey Modell Foundation also provides educational support and raises funds for research.

The Jeffrey Modell Foundation

747 3rd Avenue

New York, NY 10017

Phone: 1-800-JEFF-844

For patient education resources, see the Skin, Hair, and Nails Center, as well as Eczema.

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