Natural history of asplenism in APECED--patient report

Only a few reports on patients with hypo/ asplenism associated with APECED have been published, yet hyposplenism has been found in approximately half of the studied patients. The 7-year follow-up in our only patient with APECED revealed a decrease of spleen size from normal to half-size by ultrasound and CT examinations. Scintigraphy of the liver and spleen demonstrated a progressively diminishing splenic uptake of the tracer from low to complete absence. Peripheral blood smears revealed permanent thrombocytosis with the presence of Howell-Jolly bodies when functional asplenism was reached. The cause of autoimmunization and hyposplenism in APECED is unknown. We hypothesize that hyposplenism depends primarily on local AIRE gene dysfunction in the spleen, and secondarily on an AIRE gene-mediated autoagressive process. In our opinion, hypo/asplenism in APECED disease might not be noticed in patients with APECED if not directly examined. Thus we emphasize the necessity of searching for hyposplenism in all patients with APECED, and recommend scintigraphy.