Wiskott-Aldrich Syndrome Treatment & Management

  • Author: Donald A Dibbern Jr, MD; Chief Editor: Michael A Kaliner, MD   more...
 
Updated: Sep 28, 2010
 

Medical Care

Patients require vigilant general medical or pediatric care. Promptly and aggressively treat infections and bleeding.

  • Eczema may be severe. Manage the eczema in the usual fashion, with careful attention to skin care, moisturization, and appropriate (eg, route and potency) steroid therapy.[29]
  • Patients with thrombocytopenia may require intravenous immunoglobulin and/or corticosteroids. Patients with bleeding may require platelet and/or red blood cell transfusions.
  • Surveillance for malignancy is an important aspect of care.
  • Bone marrow transplantation may be curative if an appropriate histocompatible donor is available. However, this intervention carries substantial risks and mortality.[2]
    • Donor histocompatibility is a very important determinant of survival after bone marrow transplant for WAS. A survival rate of 80% was observed in patients who received HLA-identical transplants, but a survival rate of only 23% was observed in patients who received mismatched (haploidentical) transplants.[35] A later study of outcome of bone marrow transplant in patients with WAS examined 170 patients and found a 70% 5-year survival rate for all patients who received transplants. This included a 5-year survival rate of 87% with HLA-identical sibling donors, 52% with other related donors, and 71% with unrelated donors.[36] More recent studies have shown continued improvement in graft success and survival rates, with rates now generally near 70-80% in case series from 1990-2005 in Italy[27] and 1985-2004 in Japan.[26] When a matched sibling donor is unavailable, umbilical cord blood stem cell transplantation has been used.[37]
    • Increased attention has been given to pretransplant reduced-intensity conditioning regimens, in comparison to myeloablative conditioning, with regard to posttransplant mixed chimerism and the possibility of increased autoimmunity.[38]
    • If bone marrow transplantation is successful, hematologic and immunologic defects are corrected and eczema resolves.[25, 39]
  • Gene therapy trials (phase I/II studies to start in Europe) to reconstitute WASp expression in autologous hematopoietic stem cells have been planned.[40, 41] Mouse models for this process to date have used a modified lentiviral (HIV-1 derived) vector.[41, 42, 43]
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Surgical Care

Patients may require splenectomy to help control thrombocytopenia[44] , although this intervention may increase the already elevated risk of infection from encapsulated organisms (eg, pneumococcal sepsis). Studies demonstrate that most patients who had a splenectomy achieve normal platelet counts, and their rates of serious bleeding decrease 5- to 6-fold.[2, 25, 45]

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Consultations

  • Refer patients to an allergist/clinical immunologist and/or pediatric hematologist to exclude other comorbid immune defects and to ensure accurate diagnosis.
  • Patients with associated thrombocytopenia, bleeding, and malignancies may require consultation with a hematologist or oncologist to assist with management.
  • Patients with refractory infections may require consultation with an infectious diseases specialist.
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Diet

Patients do not require dietary restrictions.

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Activity

Patients with thrombocytopenia must take precautions to prevent bleeding (eg, fall precautions, protective headgear, no contact sports).

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Contributor Information and Disclosures
Author

Donald A Dibbern Jr, MD  Consulting Staff (Allergist), Providence St Vincent Medical Center

Donald A Dibbern Jr, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Allergy Asthma and Immunology, and Oregon Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

John M Routes, MD  Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics, Chief, Section of Allergy and Clinical Immunology, Department of Pediatrics, Medical College of Wisconsin

John M Routes, MD, is a member of the following medical societies: Alpha Omega Alpha, American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Microbiology, American Society for Virology, Clinical Immunology Society, and Federation of American Societies for Experimental Biology

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles H Kirkpatrick, MD  Professor of Medicine and Immunology, University of Colorado School of Medicine; Director of Adult Immune Deficiency Program, Department of Medicine, University of Colorado Health Sciences Center; Consulting Staff, Department of Medicine, National Jewish Medical and Research Center

Charles H Kirkpatrick, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Physicians, American Federation for Clinical Research, American Society for Clinical Investigation, and Clinical Immunology Society

Disclosure: CSL Behring Consulting fee Consulting

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Michael R Simon, MD, MA  Clinical Professor Emeritus, Departments of Internal Medicine and Pediatrics, Wayne State University School of Medicine; Adjunct Staff, Division of Allergy and Immunology, Department of Internal Medicine, William Beaumont Hospital

Michael R Simon, MD, MA is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, American Federation for Medical Research, Michigan Allergy and Asthma Society, Michigan State Medical Society, Royal College of Physicians and Surgeons of Canada, and Society for Experimental Biology and Medicine

Disclosure: Secretory IgA, Inc. Ownership interest Management position

Timothy D Rice, MD  Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, St Louis University School of Medicine

Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians

Disclosure: Nothing to disclose.

Chief Editor

Michael A Kaliner, MD  Clinical Professor of Medicine, George Washington University School of Medicine; Chief, Section of Allergy and Immunology, Washington Hospital Center; Medical Director, Institute for Asthma and Allergy

Michael A Kaliner, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Clinical Investigation, American Thoracic Society, and Association of American Physicians

Disclosure: Alcon Consulting fee Consulting; Greer Consulting fee Consulting; Sanofi Consulting fee Consulting; Schering/Merck Consulting fee Consulting; Teva Consulting fee Consulting; Meda Honoraria Speaking and teaching; Ista Consulting

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Eczematous lesions in Wiskott-Aldrich syndrome. The lesion is essentially indistinguishable from that of atopic dermatitis except for the presence of purpura and petechiae.
 
 
 
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