AACE2021-A-1096: Perceptions of Certain Genetic and Metabolic Bone Disorders: An Online Survey of Adult and Pediatric Physicians from the Middle East and Africa

Abstract

There is limited data on the pattern of the awareness of burden and clinical management of genetic and metabolic bone disorders in the Middle East and Africa (MEA) region. X-linked hypophosphatemic rickets (XLH) is a genetic disease that results in reduced mineralization of bone, teeth, and renal phosphate wasting. XLH is traditionally treated by phosphate and vitamin D analogs and more recently, by burosumab was approved as a specific XLH therapy. We sought to assess the awareness of burden and clinical management of genetic and metabolic bone disorders in general and the awareness, knowledge, and management of XLH in the MEA region. A convenience sample of physicians practicing in the MEA in relevant disciplines were invited to take a web-based survey consisting of multiple choice questionnaires. It included 20 questions arranged in 5 domains: a) demographic and professional profile, b) general awareness of rare genetic/metabolic bone disease, c) specific awareness of XLH, d) Symptoms of XLH, and e) management of XLH). Out of complete 262 responses, 139 were eligible for inclusion in the analysis. The largest proportion, 41.7% practice in the Arabian Gulf , 20.1% in the rest of the Middle East, 17.3% in North Africa and 20.9% in Subsaharan Africa. The largest single speciality was endocrinology (adult 35.3%, pediatric 5.7%), When asked “thinking of metabolic/genetic bone diseases, which specific diseases, if any, come to mind?. 16 (11.5%) responded that they have no knowledge of any metabolic/genetic bone diseases and 123 the respondents (88.5%) stated that they could think of some metabolic/genetic bone diseases of these 111 enumerated various genetic and metabolic disorders. Also, they were given a typical case scenario suggestive of XLH. Twenty five respondents (18.0%) indicated not knowing what disease this description is referring to whereas 114 (82.0%) stated having an idea about the condition. Of the latter group, 109 provided suggestions for possible diagnosis; the top single diagnosis was XLH. Around three quarters of respondents were aware of conventional therapy for XLH with vitamin D and phosphate supplementation. However, 89.8% of respondents welcomed specific biological therapy. The survey revealed that the surveyed physicians are reasonably aware of XLH but have variable practice and are unsatisfied with its conventional treatment. Raising awareness of the recognition and modern management of bone metabolic and genetic conditions exemplified by XLH is recommended.