Challenges with Management of Autoimmune Polyendocrinopathy-Candidiasis-ectodermal dystrophy in Group of Iraqi patients

Abstract

Background: Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy is a rare disease with heterogenous presentation, its diagnosis and management make a challenge in our medical practice. Aim: To describe the variability of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) presentation and management in a group of pediatric Iraqi patients and define some measures for promoting recognition and adequate management of patients. Patients and Methods: We included 27 patients (24 families) with APECED (median age at diagnosis was 7 years; range 2 years – 12 years) 11 males and 16 Females, their medical records were reviewed and then followed up for a period from 2001 and 2021. The diagnosis of the disease was made by the presence of at least two major clinical features, prospectively Patients were scheduled for followed up visits every 6–12 months in our hospital. Full evaluation including monitoring for the presence of the new disease manifestations and treatment of every component was conducted semiannually. Results: The percentages of females more than the male. More patients have a negative family history and positive consanguinity. Patients with hypocalcemic fits and Addison crisis are the largest percentage of patients (59.3%, 18.5% consequently). The difference in median age and interquartile range between the three main features of disease was compared and were significant, p-value = 0.02. The mortality rate was 11.1% and 57% of patients reported difficulty in compliance with the follow-up program. Conclusion: The disease although it is rare and had very important major and minor autoimmune manifestations that can be life-threatening if it is not well promptly diagnosed and treated. Evidently many measures can be taken in order to improve its diagnosis and management.