Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients

N Engl J Med. 1990 Jun 28;322(26):1829-36. doi: 10.1056/NEJM199006283222601.

Abstract

To define the clinical picture and course of the autosomal recessive disease called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), we report data from our 10-month to 31-year follow-up of 68 patients from 54 families, now 10 months to 53 years of age. The clinical manifestations varied greatly and included from one to eight disease components, 63 percent of the patients having three to five of them. The initial manifestation was oral candidiasis in 41 patients (60 percent), intestinal malabsorption in 6 (9 percent), and keratopathy in 2 (3 percent). All the patients had candidiasis at some time. The earliest endocrine component appeared at 19 months to 35 years of age. Hypoparathyroidism was present in 54 patients (79 percent), adrenocortical failure in 49 (72 percent), and gonadal failure in 15 (60 percent) of the female patients greater than or equal to 13 years of age and 4 (14 percent) of the male patients greater than or equal to 16 years of age. There were multiple endocrine deficiencies in half the patients. From 4 to 29 percent of the patients had periodic malabsorption, gastric parietal-cell atrophy, hepatitis, alopecia, vitiligo, or a combination of these conditions. Dental-enamel hypoplasia and keratopathy were also frequent but were not attributable to hypoparathyroidism. In the patients whose initial manifestation (other than candidiasis) was adrenal failure, the other components developed less often than in the remaining patients. We conclude that the clinical spectrum in patients with APECED is broad. The majority of patients have three to five manifestations, some of which may not appear until the fifth decade. Therefore, all patients need lifelong follow-up for the detection of new components of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenal Insufficiency / epidemiology
  • Adult
  • Autoimmune Diseases / epidemiology*
  • Autoimmune Diseases / mortality
  • Autoimmune Diseases / physiopathology
  • Candidiasis / epidemiology*
  • Candidiasis / mortality
  • Candidiasis / physiopathology
  • Child
  • Child, Preschool
  • Ectodermal Dysplasia / epidemiology*
  • Ectodermal Dysplasia / physiopathology
  • Endocrine System Diseases / epidemiology*
  • Endocrine System Diseases / mortality
  • Endocrine System Diseases / physiopathology
  • Female
  • Follow-Up Studies
  • Humans
  • Hypoparathyroidism / epidemiology
  • Infant
  • Malabsorption Syndromes / epidemiology
  • Male
  • Middle Aged
  • Quality of Life
  • Syndrome