X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries

Abstract

X-linked hypophosphatemic rickets (XLHR) is a genetic disease caused by inactivating pathogenic variants in PHEX, which results in reduced mineralization of bone, teeth, and renal phosphate wasting. XLHR is traditionally treated by phosphate and vitamin D analogs. Recently, burosumab, a recombinant anti-fibroblast growth factor-23 (FGF-23) monoclonal antibody was approved as specific XLHR therapy. We aimed to assess the awareness, knowledge, and management of XLHR among members of the Arab Society for Pediatric Endocrinology and Diabetes (ASPED). Of the 97 physicians who answered the online questionnaire, 97% were aware of XLHR, and while 90% screen family members of the index case, only 29% manage children with XLHR. In children with rickets, 40% of participants measure serum/urine phosphate routinely, and 31% request serum FGF-23 in suspected XLHR cases. Almost all responders use conventional XLHR therapy, and 4% used Burosomab. Only 14% were satisfied with the conventional treatment, and 69% reported therapeutic complications in up to 25% of their patients. Multidisciplinary care for XLHR is practiced by 94%, but 82% of providers did not have transition clinics. Pediatric endocrinologists in ASPED countries are aware of XLHR but have variable practice and are unsatisfied with its conventional treatment. Raising awareness of the recognition and modern management of XLHR is needed.

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

“…A recent study included pediatric endocrinologists exclusively and may not reflect the broader image. 20 In the present study, although 88.9% of participants had heard about XLH, their awareness of the symptoms was limited. This may result in a lack of credibility as patients may hesitate to take further advice from nonexpert health care professionals with no in-depth knowledge about XLH.…”

“…To this end, the present study and that of Deeb et al are valuable needs-assessment exercises for identifying gaps in the knowledge to help in planning education and training activities. 20 The two studies targeted slightly different populations with some overlap and used instruments with different emphases. Thus, their results should be viewed as complementary.…”

“…This concurs with the findings of Deeb et al, who posed this question more directly. 20 Previous studies of physicians and patients addressed the reasons behind the perceived inadequacy of conventional treatment. 15,21 These included poor compliance related to multiple doses, gastrointestinal side effects and unfavored palatability, reduced final height persistence of skeletal deformities, and appearance of nephrocalcinosis as a complication.…”

“…In the other regional survey, the most familiar suggested reasons for the inadequacy of conventional treatment were reduced final height, inability to revert skeletal deformities, poor compliance, and associated nephrocalcinosis. 20 We have not included such details in more depth in our survey, as our target population was much more comprehensive, and it was felt inappropriate.…”

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

“…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:…”