PMID: 11327379May 1, 2001Paper

Natural history of asplenism in APECED--patient report

Journal of Pediatric Endocrinology & Metabolism : JPEM
J StarzykH Dziatkowiak

Abstract

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.

References

May 1, 1989·European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology·C H Kirkpatrick
Dec 17, 1998·European Journal of Gastroenterology & Hepatology·S D Johnston, J Robinson
Feb 5, 1999·Human Molecular Genetics·P BjörsesI Ulmanen
May 13, 1999·Critical Care Medicine·M L Brigden, A L Pattullo
Oct 1, 1956·The Journal of Clinical Endocrinology and Metabolism·V M ESSELBORNR R WILLIAMS
Jul 1, 1946·The Journal of Clinical Endocrinology and Metabolism·M F LEONARD

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Polyendocrine Syndromes

This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.

Autoimmune Polyendocrinopathies

Autoimmune polyendocrinopathies, also called polyglandular autoimmune syndromes (PGASs), or polyendocrine autoimmune syndromes(PASs), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. Discover the latest research on autoimmune polyendocrinopathies here.