Table 5a.

Wiskott-Aldrich Syndrome and X-Linked Thrombocytopenia: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Thrombocytopenia
  • The mainstay of thrombocytopenia mgmt in Wiskott-Aldrich syndrome is early HSCT (see Targeted Therapy).
  • Platelet transfusions should be administered judiciously (e.g., for significant bleeding & surgical procedures).
For autoimmune thrombocytopenia:
  • IVIG & immune modulation w/steroids as first-line therapy
  • Rituximab as second-line therapy
Autoimmune thrombocytopenia can occur in addition to baseline thrombocytopenia & can lead to severe bleeding.
Splenectomy may be lifesaving in persons refractory to treatment & w/severe bleeding.
  • Splenectomy can also be considered for mgmt of XLT-related thrombocytopenia.
  • Males who have had splenectomy must take antibiotics routinely for the rest of their lives because of ↑ risk for overwhelming infection.
Eczema
  • Topical steroids
  • Antibiotics may be needed for chronic skin infections that worsen eczema.
Immunodeficiency
  • Prophylaxis for Pneumocystis jirovecii in infants w/Wiskott-Aldrich syndrome (e.g., Bactrim® or pentamidine)
  • Consider prophylactic antibiotics in persons w/recurrent bacterial sinopulmonary infections.
  • IVIG starting by age 6 mos administered every 3-4 wks or subcutaneously, usually on a weekly basis. IVIG is a highly purified blood derivative (a combination of many specific antimicrobial antibodies).
  • Routine immunizations. "Non-live" vaccinations can be given safely to persons w/a WAS-related disorder but may not generate protective levels of antibodies.
Infection
  • Prompt eval & treatment for infection
  • Treatment w/empiric parenteral antibiotics is necessary in most persons.
  • Exhaustive eval for source of infection, which may incl invasive assessments; identification of offending organism is needed to guide therapy.
If HSCT is being considered, prevention & treatment of infections is necessary to limit pre-transplant morbidity.
Autoimmune disorders Judicious use of immunosuppressants tailored to individual diagnosis
Lymphoma Treatment w/allogeneic HSCT w/additional mgmt per hematologist/oncologistRecommended to ↑ chance of relapse-free survival

HSCT = hematopoietic stem cell transplantation; IVIG = Intravenous immunoglobulin; XLT = X-linked thrombocytopenia

From: WAS-Related Disorders

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