Background/Purpose: X-Linked Hypophosphatemia (XLH) is the most common form of heritable rickets. Although disease severity is variable, adults with XLH may suffer from skeletal symptoms leading to function disability. There are no data on the consequences of these symptoms on quality of life (QoL) of adults with XLH. The objective was to evaluate the QoL and the variables associated with low QoL in adult patients with XLH

Methods: We conducted a cross sectional study in adult patients with XLH, who consulted in rheumatology, for skeletal symptoms, between 2013 and 2014. We assessed the intensity of pain (VAS Visual Analogic Scale) and QoL using 3 Patient Reported Outcomes: HAQ (Health Assessment Questionnaire, high if >0.5), RAPID3 (Routine Assessment of Patient Index Data 3, high if >6) and 36-item short-form health (SF36) survey. We also collected demographic and disease characteristics, radiographic features and data on treatments of XLH. We described the QoL of XLH patients and analysed the variables associated with low QoL

Results: Thirty two patients with XLH (27 women; mean age of 42.8 yrs) with PHEX mutations were included. 15 (48.4%), 16 (51.6%), 12 (40%) received respectively phosphate supplements, vitamin D analogues, and 25 OH-vitamin D supplements, at the time of assessment. X-rays showed osteoarthritis (knee, hip or spine) (n=27, 90%), enthesopathies (n=19, 61.3%) and sequelae of insufficiency fractures (n=4, 14.8%). Skeletal pain was reported by 64.3% of patients with a mean VAS of 4.6 (+/-2.6). Age is significantly associated with low QoL (p≤0.05), indicated by high scores of HAQ (mean value 0.71±0.6, HAQ>0.5 in n=19), RAPID3 (mean value 11.32 ± 6.4, RAPID3>6 in n=23), and physical domains of SF36 (physical functioning (mean value 58.4± 23.6) and physical role (mean value 37.5± 39.1)). Osteoarthritis was associated with low QoL indicated by high HAQ (p≤0.05). Radiographic enthesopathies were significantly higher in patients with high RAPID3 and low bodily pain scale of SF36 (mean value 55± 24) (p≤0.05). Phosphate supplements, vitamin D analogues and physiotherapy treatments were associated with high general health (mean value 40.23±17.1) and social functioning (mean value 70.31±21.7) scales of SF36 (p≤0.05).
Conclusion: This study showed that QoL of adults with XLH is altered; age and radiographical involvement (osteoarthritis and enthesopathies) are significantly associated with low QoL; adults treated for XLH reported better general health and social functioning scores.

---

« Back to 2014 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/quality-of-life-assessment-of-adults-patients-with-x-linked-hypophosphoremia/