Thrombocytopenia and
pancytopenia, occurring in patients with
Fanconi anemia (FA), are interpreted either as progression to
bone marrow failure or as developing myelodysplasia. On the other hand,
immune thrombocytopenia (
ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in
congenital bone marrow failure syndromes, including FA. Here, we describe the
clinical course of two independent FA patients with atypical - namely
immune - thrombocytopenia. While in one patient belonging to complementation group FA-A, the
ITP started at 17 months of age and showed a chronically persisting course with severe
purpura, responding well to
intravenous immunoglobulins (
IVIG) and later also
danazol, a
synthetic androgen, the other patient (of complementation group FA-D2) had a self-limiting course that resolved after one administration of
IVIG. No
cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic
ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital
bone marrow failure/
tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed.