Incidence of Complications in 25 Adult Patients With X-linked Hypophosphatemia

Abstract

Context: Adults with X-linked hypophosphatemia (XLH) present complications other than osteomalacia.

Objective: To describe the incidence and severity of comorbidities in adults with XLH.

Methods: This observational retrospective study included a total of 25 adults with XLH with thorough investigations, including spinal computed tomography scans, x-rays of hip/knee joints and Achilles tendons, abdominal ultrasounds, and audiograms. The index of ossification of the anterior/posterior longitudinal ligament and yellow ligament (OA/OP/OY index) and the sum of OA/OP/OY index (OS index) were utilized to evaluate the severity of spinal ligament ossification. The Kellgren-Lawrence (KL) classification was adopted to evaluate the severity of the hip/knee osteophytes.

Results: The participants consisted of 13 male patients and 12 female patients from 21 families, with a median age of 43 (range, 18-72) years. In all, 20 patients (80%) showed spinal ligament ossification. The median OA/OP/OY/OS indices were 2 (0-22), 0 (0-15), 6 (0-13), and 12 (0-41), respectively. Hip/knee osteophytes were reported in 24 (96%) and 17 cases (68%). The median KL grade was 3 in the hip joint and 2 in the knee joint, and 18 cases (72%) developed enthesopathy in the Achilles tendon. Nephrocalcinosis and hearing impairment were observed in 18 (72%) and 8 (32%) cases.

Conclusion: This study revealed a high prevalence and severity of ectopic ossification and disclosed the incidence of nephrocalcinosis and hearing impairment in adults with XLH. In cases with severe spinal ligament ossification or noticeable osteophytes around the hip/knee joints, undiagnosed XLH should be considered as a possible underlying condition.

Keywords: X-linked hypophosphatemia; enthesopathy; fibroblast growth factor 23; ossification of posterior longitudinal ligament; osteophyte.