Clinical manifestations in adult patients with XLH
Clinical manifestations in adults with XLH arise from1,2:
- New and continuing symptoms as a result of ongoing, active disease
- Unresolved complications of XLH from childhood
Skeletal manifestations
Physical function
Quality of life
Skeletal manifestations
Skeletal manifestations
부전 골절 및 루저존(가성골절)을 포함한 여러가지 형태의 골절4-6은 약해진 뼈가 장기간 체중을 지지하면서 그로 인해 초래될 수 있습니다.1 이러한 증상은 흔히 하지와 체중을 지지하는 뼈에 자연발생적인 부전 골절을 초래합니다.
골절을 보고한 XLH 환자 중 거의 절반의 최초 골절 발생 평균 연령이 26.42세입니다.
Due to the lifelong and progressive nature of XLH,2,7-10 assessment is recommended
Skeletal manifestations continue into adulthood1,2,11
Ongoing, active disease in adults with XLH can cause several skeletal manifestations as a result of osteomalacia, or weakened bone.
Reported symptoms of osteomalacia include bone pain, muscle weakness and difficulty walking.
Frequency of skeletal and dental impairment in 232 adult XLH patients2
Bone repair and osteomalacia
Normal Bone Formation7,12,13
- Osteoclasts bind and initiate bone remodelling to repair bone damage
- The mineralisation front should normally occupy >80% of the osteoid surface, with a slight decrease in older patientsa
Osteomalacia7,12-14
- Osteoclasts have reduced ability to bind and initiate bone remodelling on undermineralised bone
- A mineralisation front of <20% represents a definite calcification defecta
a Definitive normal values for the measurements made in bone morphometry vary between laboratories.12
Physical function
Ongoing, active disease in adults with XLH can lead to impaired physical function.2
Adult patients with XLH most commonly report decreased range of motion, and gait disturbances, as well as pain and the need for walking assistance.2,8
성인 XLH 환자에서 관절 가동 범위 감소, 보행 장애, 통증 그리고 보행 보조의 필요성이 가장 많이 보고되었습니다.2,8
Due to the lifelong and progressive nature of XLH,2,7-10 assessment is recommended
Most frequently reported physical function limitations in 232 adult XLH patients2
Quality of life
Many adults with XLH have significantly impaired quality of life2
Pain, stiffness, and decreased physical function are the most common contributors to impaired quality of life in adults with symptomatic XLH.2
통증, 경직 및 신체 기능 저하는 성인 증상성 XLH 환자에서 삶의 질을 저하시키는 흔한 기여요인입니다. 2
Due to the lifelong and progressive nature of XLH,2,7-10 assessment is recommended
Complications associated with lower quality of life in adult XLH patients2
Due to the lifelong and progressive nature of XLH,2,7-10 assessment is recommended
1. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. 2. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphataemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. 3. Veilleux LN, Cheung M, Ben Amor M, Rauch F. Abnormalities in muscle density and muscle function in hypophosphatemic rickets. J Clin Endocrinol Metab. 2012;97(8):E1492-E1498. 4. Looser zones. Radiopaedia Web site. https://radiopaedia.org/articles/looser-zones-1. Accessed October 9, 2017. 5. Jackson WPU, Dowdle E, Linder GC. Vitamin-D-resistant osteomalacia. Br Med J. 1958;1(5082):1269-1274. 6. Insufficiency fracture. Radiopaedia Web site. https://radiopaedia.org/articles/insufficiency-fracture. Accessed October 9, 2017. 7. Martin A, Quarles LD. Evidence for FGF23 involvement in a bone-kidney axis regulating bone mineralization and systemic phosphate and vitamin D homeostasis. Adv Exp Med Biol. 2012;728:65-83. 8. Che H, Roux C, Etcheto A, et al. Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms. Eur J Endocrinol. 2016;174(3):325-333. 9. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. 10. Econs MJ, Samsa GP, Monger M, Drezner MK, Feussner JR. X-linked hypophosphatemic rickets: a disease often unknown to affected patients. Bone Miner. 1994;24(1):17-24. 11. Reid IR, Hardy DC, Murphy WA, Teitelbaum SL, Bergfeld MA, Whyte MP. X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine (Baltimore). 1989;68(6):336-352. 12. Revell PA. Histomorphometry of bone. J Clin Pathol. 1983;36(12):1323-1331. 13. Miller PD. Renal bone disease. In: Orwoll ES, ed. Atlas of Osteoporosis. 3rd ed. Current Medicine Group; 2009. 14. Chambers TJ, Thomson BM, Fuller K. Effect of substrate composition on bone resorption by rabbit osteoclasts. J Cell Sci. 1984;70:61-71.
