Doctors' Perceptions of Rare Bone Disorders and X-Linked Hypophosphatemia: A Survey from Africa and the Middle East

Abstract

Objectives To assess the perceptions of genetic and metabolic bone disorders with a focus on X-linked hypophosphatemia (XLH) in the Middle East and Africa. Methods An online survey of a convenience sample of physicians from relevant disciplines. The questions covered respondents' profiles, awareness of rare bone diseases, and XLH's burden, symptoms, and management. Results A total of 139 respondents were included in the analysis. Responses came from the Arabian Gulf (41.7%), Middle East (20.1%), North Africa (17.3%), and Sub-Saharan Africa (20.9%). The largest single specialty was endocrinology (41%). When asked, 16 (11.5%) could not know about any metabolic/genetic bone diseases, and 123 respondents (88.5%) stated that they could think/were aware of some metabolic/genetic bone diseases, 111 enumerated various genetic and metabolic disorders. When they were presented with a typical case scenario of XLH, 18.0% of the respondents admitted ignorance of any possibility. However, 82.0% indicated having some idea of the condition. Of the latter group, 109 provided suggestions for possible diagnosis; the top single diagnosis was XLH. A smaller proportion of adult physicians had patients with symptoms attributed to 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. Conclusions Physicians are reasonably aware of XLH but have variable knowledge. They are unsatisfied with its conventional treatment. More in-depth knowledge of recognizing and modern management of bone metabolic and genetic conditions should be enhanced, particularly among adult physicians.

X-Linked Hypophosphatemia at the European Society of Pediatric Endocrinology Meeting 2022

“…Therefore, the conference highlights will shed the light on the following main aspects: (1) etiology and genes, (2) treatment and impact, and (3) ongoing management, aiming to contribute to reducing the already recognized gaps in the treatment modalities/treatment pathway, treatment outcomes, mortality, and health care resource utilization in the Middle East, 2 especially with the increased number of diagnosed cases from the region 3 and the desire to raise the awareness on the recognition and modern management of X-linked hypophosphatemia (XLH). 4…”

Improving the Knowledge of X-linked Hypophosphatemia among Clinicians in the Arabian Gulf and African Countries

“…X-linked hypophosphatemia (XLH) is one such rare bone condition. In the current issue of JDEP , Beshyah et al 2 undertook an online survey of clinicians in the Middle East and African countries to determine their knowledge of rare metabolic bone disorders and, more specifically, about XLH. While more than 80% of respondents were aware of XLH, the survey identified significant gaps in the clinicians' knowledge of symptoms of the condition and its management during the life course.…”

“…The surveys by Beshyah et al 2 and Deeb et al 3 have identified the critical educational needs of teams of health professionals caring for patients with XLH and rare bone disorders. Two important questions arise from these surveys:…”