eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology

Wiskott-Aldrich Syndrome: Follow-up

Author: Robyn Siperstein, MD, Staff Physician, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School
Coauthor(s): Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Contributor Information and Disclosures

Updated: Feb 3, 2009

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.

Further Outpatient Care

Inpatient & Outpatient Medications

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.

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.

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.

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.
  • 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.

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 excellent patient education resources, visit eMedicine's Skin, Hair, and Nails Center. Also, see eMedicine's patient education article Eczema.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize or to accurately assess the severity of infection from bacteria such as pneumococci that can cause overwhelming sepsis, even in the presence of prophylactic antibiotics
  • Failure to ensure that adequate platelet and erythrocyte replacement is administered in the presence of bleeding
  • Failure to obtain informed consent when highly risky therapies such as stem cell reconstitution or splenectomy are recommended: Informed consent is particularly critical for stem cell transplantation because the risk for complications is greater than in other primary immunodeficiencies. The use of young siblings as donors for stem cell reconstitution, particularly of bone marrow, raises more complex ethical issues for informed consent. In some circumstances, the courts appoint an independent unrelated individual as the guardian for the sibling donor.

Special Concerns

  • Patients with Wiskott-Aldrich syndrome (WAS), particularly postsplenectomy, are at great risk for sepsis. Animal bites, especially from dogs, carry the risk of sepsis from organisms such as Ehrlichia, Babesia, and Pasteurella species.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Ann O'Neill Shigeoka, MD to the development and writing of this article.



More on Wiskott-Aldrich Syndrome

Overview: Wiskott-Aldrich Syndrome
Differential Diagnoses & Workup: Wiskott-Aldrich Syndrome
Treatment & Medication: Wiskott-Aldrich Syndrome
Follow-up: Wiskott-Aldrich Syndrome
Multimedia: Wiskott-Aldrich Syndrome
References
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Further Reading

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Keywords

Wiskott-Aldrich syndrome, WAS, Wiskott-Aldrich-Huntley syndrome, eczema-thrombocytopenia syndrome, eczema-thrombocytopenia-diarrhea syndrome, eczema-thrombocytopenia immunodeficiency syndrome, X-linked thrombocytopenia, intermittent thrombocytopenia, neutropenia, lymphomas, leukemia, atopic dermatitis, otitis media, pneumonia, sepsis, meningitis, reactive airway disease, allergic rhinitis, Haemophilus influenzae type B, Hib, Staphylococcus aureus, Escherichia coli, Klebsiella pneumoniae, varicella-zoster virus, herpes simplex virus, autoimmune hemolytic anemia, AIHA, arthritis, nephritis, immune thrombocytopenia, non-Hodgkin lymphoma, impetigo, cellulitis, furuncles, abscesses, eczema herpeticum, molluscum, sinonasal infections, pharyngitis, thrush

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Contributor Information and Disclosures

Author

Robyn Siperstein, MD, Staff Physician, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School
Robyn Siperstein, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, American Society for MOHS Surgery, and Sigma Xi
Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

James M Oleske, MD, MPH, François-Xavier Bagnoud Professor of Pediatrics, Director, Division of Pulmonary, Allergy, Immunology and Infectious Diseases, Department of Pediatrics, New Jersey Medical School
James M Oleske, MD, MPH is a member of the following medical societies: Academy of Medicine of New Jersey, American Academy of Pediatrics, American Public Health Association, American Society for Microbiology, Infectious Diseases Society of America, and Pediatric Infectious Diseases Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

David J Valacer, MD, Consulting Staff, Hoffman La Roche Pharmaceuticals
David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, and New York Academy of Sciences
Disclosure: Nothing to disclose.

CME Editor

David Pallares, MD, Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville
David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology
Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD, Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School
Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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