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Submitted on December 7, 2005
Accepted on May 1, 2006
The Hospital for Children and Adolescents, Helsinki University Hospital, FIN-00029 Helsinki, Finland
* To whom correspondence should be addressed. E-mail: Jaakko.Perheentupa{at}saunalahti.Fi.
Context: APECED is known as a rare hereditary disease with classic triad of mucocutaneous candidiasis (MC), hypoparathyrodism (HP) and adrenocortical failure (AF), two of which - diagnostic dyad - are required for the diagnosis. Evidently, many patients suffer unrecognised because the condition is more variable and complex.
Objective: To describe the variability of APECED for promoting recognition and adequate follow-up of patients .
Setting: Finnish series of patients is the largest internationally.
Patients: All 91 known Finnish patients.
Results: Besides the classical triad a dozen autoimmune endocrine and other components occurred variably, several of them dangerous. The initial manifestation appeared within the age range of 0.2-18 yr, MC being part of it in 60% of the patients, HP in 32%, and AF in 5%. But 23% of the patients had 1-6 other components before the diagnostic dyad: hepatitis, keratoconjunctivitis, chronic diarrhea, periodic rash with fever. The dyad appeared 0.2 - 20 yr later. Prevalence of most components increased with age, diabetes mellitus, hypothyroidism and testicular failure becoming common toward middle age. Tubulointerstitial nephritis occurred in 9% of the patients, apparent mineralocorticoid excess in 9%, asplenia in 19% of adults, and oral or esophageal squamous cell carcinoma in 10% of patients beyond 25 yr.
Conclusions: Any child or young adult with one of the many disease components requires search for others and consideration of AIRE mutation assay.
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