Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS1) is an autosomal recessive disorder characterized by chronic candidiasis and autoimmune destruction of endocrine organs. Hypoparathyroidism (HP), adrenocortical failure (AF) and hypogonadism are the most common endocrinopathies, which together with their treatment may impact bone health. However, very little is known about the long-term skeletal health in patients with APECED.
Objective and hypotheses: Aim of the study was to determine the prevalence of, and risk factors for, osteopenia and osteoporosis in children and adults with APECED.
Method: The cross-sectional cohort consisted of 29 patients (21 females) who were examined clinically, their bone mineral densities (BMD) were measured with dual-energy X-ray absorptiometry and radiographic abnormalities were evaluated with spinal X-ray imaging. Fracture history was collected with questionnaire.
Results: The patients mean age was 35 years (range 1271 years). 26 (90%) patients had HP, 26 (90%) patients had AF and 17 (59%) patients had hypogonadism. Ten (34%) patients had scoliosis. Altogether 16 (55%) patients had had 15 fractures and seven of them had low-impact fractures. Spinal compression abnormalities were evident in four (14%) patients. The mean BMD Z-scores (95% CI) were 0.5 (−0.01.1) for whole body, 1.2 (0.52.0) for lumbar spine, 0.7 (0.11.2) for femoral neck. Osteopenia was present in 20%.
Conclusion: Patients with APECED are not at high risk for low BMD, but based on fracture prevalence their bone structure may be altered and warrants further studies.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology