CLINICAL VARIATION OF AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY (APECED) IN A SERIES OF 68 PATIENTS

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 ≥ years of age and 4 (14 percent) of the male patients ≥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. AUTOIMMUNE polyendocrinopathy—candidiasis—ectodermal dystrophy (APECED) is an autosomal recessive disease characterized by a variable combination of (1) failure of the parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells, and thyroid gland, and hepatitis; (2) chronic mucocutaneous candidiasis; and (3) dystrophy of dental enamel and nails, alopecia, vitiligo, and keratopathy.1 2 3 4 5 This disease has many names, one being autoimmune polyglandular disease Type I.4 We prefer the name APECED, because it emphasizes the three groups of disease components.2,3 There are numerous reports describing single patients or a few patients with APECED. These have been reviewed extensively,4 5 6 7 8 9 10 but the reviews have given… © 1990, Massachusetts Medical Society. All rights reserved.