INTRODUCTION :
Wiskott Aldrich syndrome (WAS) is a rare X-linked disorder characterized
by eczema, small platelets with thrombocytopenia and combined
immunodeficiency with increased risk for autoimmune disorders and
cancers1,2. The incidence is 1 to 10 per million live
male births, with average age at diagnosis of 24 months in families
without a previously affected family member3. WAS has
a wide range of phenotypes depending on the expression of the WASP gene.
Therapeutic options range from supportive therapy to allogeneic bone
marrow transplant and gene therapy4,5,6.
As with rare diseases, there is a paucity of randomized control trials
in WAS. Observational studies have been conducted to define disease
events and recognize outcomes of WAS patients treated with different
therapeutic modalities. Hematopoietic stem cell transplant (HCT) as a
treatment modality for WAS was first employed in
19683. Since then, use of matched sibling donor for
HCT has become a standard of care for WAS4,5,6. There
are several studies showing excellent outcomes with matched sibling HCT.
However, there are no studies with a direct comparison of outcomes,
complications and health care utilization in patients who underwent
transplant versus no transplant.
We conducted a cross sectional analysis on a large inpatient database to
compare outcomes, associated complications and health care utilization
in patients with WAS who underwent HCT versus those who received
supportive care.