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.

Materials and 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.

Keywords

hypophosphatemia - rickets - X-linked hypophosphatemia (XLH) - genetic bone diseases - metabolic bone diseases - rare bone diseases - Burosumab

Authors' Contribution

All named authors contributed to the conception and conduct of the study. They have all contributed substantially to the drafting and revision of the manuscript and approved its final version.

Compliance with Ethical Principles

The study was approved by the Institutional Review Board of SKMC, Abu Dhabi and all participants provided informed electronic consent before getting access to the survey questionnaire. Responses were analyzed anonymously.

Publikationsverlauf

Artikel online veröffentlicht:
13. September 2022

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