This study describes the effects of two major treatment options,
splenectomy and/or
bone marrow transplantation, on the natural history of the Wiskott-Aldrich (WAS) syndrome. The records of 62 patients with the WAS evaluated at the National Institutes of Health Clinical Center from 1966 to 1992 were reviewed. Nineteen patients were treated with
bone marrow transplantation (BMT) and the results were largely dependent on the source of the graft. Twelve of 12 patients receiving HLA-matched sibling marrow achieved satisfactory immunologic and hematologic reconstitution. By contrast, only 2 of 7 patients receiving haploidentical, parental, or matched unrelated marrow survived more than 1 year after BMT. Thirty-nine patients who lacked suitable bone marrow donors early in their course underwent
splenectomy for management of their
thrombocytopenia; most received prophylactic
antibiotics to minimize the risk of
sepsis. Nearly all these patients achieved normal platelet counts and the rate of serious
bleeding was reduced nearly sevenfold. Median survival in the untransplanted
splenectomy group was 25 years, compared with less than 5 years in unsplenectomized patients. We conclude that HLA-matched sibling donor BMT is the treatment of choice for patients with WAS and that
splenectomy and daily prophylactic
antibiotics provide a significant survival advantage to those boys without a matched sibling donor.
Splenectomy should probably be used in preference to unmatched BMT until results with alternative donor BMT significantly improve or gene therapy becomes available.