Notes for doctors treating patients with APECED/AP
Jaakko Perheentupa, Professor of Paediatrics (emeritus) University of Helsinki, Finland (jaakko.perheentupa@saunalahti.fi) June 2007
Last updated 2008-04-10
DIAGNOSING APECED
APECED was traditionally thought to require two of the triplet chronic mucocutaneous candidosis (MC), hypoparathyroidism (HP) and adrenocortical failure (AF). Such combination does indeed give firm diagnosis, but many patients’ life is in danger before such criterion is fulfilled. The early clinical picture may not include any of those three or only MC, but may be dominated by one or more of hepatitis, keratopathy, periodic rash with fever, chronic diarrhoea and severe obstipation. These should be recognized as potential early components of APECED. Observing any one of them in an infant or young child calls for scrutiny for the other components of APECED,including the visible oral, ophthalmic, and dermal features (table at the end). Search for AIRE mutations should be considered, particularly if more than one component is present. The same holds for apparently isolated HP or AF, especially in children, but even in anyone under 30 years of age.
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