No Blast from the Past: An Infrequent Syndrome Mimicking Leukemia

Autoimmune lymphoproliferative syndrome (APLS) is a rare disease characterized by lymphadenopathy, hepatosplenomegaly, multilineage cytopenias and susceptibility to malignancy due to a disorder of lymphocyte apoptosis.

A 13 year-old boy was referred for pancytopenia and splenomegaly without systemic symptoms. Infectious, malignant and autoimmune diseases were excuded. Changes in peripheral blood flow citometry, resistance to fas-induced apoptosis and a heterozygote mutation of the fas gene confirmed the diagnosis of APLS.

Corticotherapy lead to improvement of the cytopenias and splenomegaly.

Although rare, APLS should be considered in these situations after excluding more frequent causes. Early diagnosis and treatment have important prognostic value.