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
