Patient case studies of XLH
See sample case studies of adults and children.
The progressive nature of XLH may lead to increasing clinical consequences over time.1-3
Early management of XLH in both adults and children may help prevent further complications.
Symptoms of XLH are nonspecific when considered individually and vary between patients. Accordingly, patient care requires a comprehensive team of healthcare practitioners and specialists to provide treatment and disease education for you and your patients.
These specialists may include:
Managing XLH symptoms will depend on the severity of their clinical presentation. Some ways to help manage symptoms may include:
Other strategies to help manage XLH symptoms:
Due to the progressive nature of XLH, pediatric patients will eventually need to transition in care as they develop into young adults. Healthcare providers can play an active role in helping these patients become proactive in their care by helping educate them on the disease and encouraging self-management.7
Transitional care for young adults is important because of the progressive nature of XLH. As pediatric patients grow into young adults, it's important to educate them on their disease and how to take care of themselves.
Help them by promoting disease education early and encouraging independent self-care as they grow older. Patients can develop healthy habits proactively and prioritize their needs.
A careful transition for young adults with XLH may promote favorable disease management.7
For patients with X-linked dominant disorders like XLH, genetic counseling can be an important element in helping patients manage their condition, identify family members at risk, learn about existing protections against insurance and employment discrimination, and connect with patient support organizations.
Watch videos to get more information about how XLH affects the body.
1. Dahir K, Roberts MS, Krolczyk S, Simmons JH. X-linked hypophosphatemia: a new era in management. J Endocr Soc. 2020;4(12):bvaa151. doi:10.1210/jendso/bvaa151 2. 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. doi:10.1002/jbmr.340 3.Hamilton AA, Faitos S, Jones G, Kinsley A, Gupta RN, Lewiecki EM. Whole body, whole life, whole family: patients' perspectives on X-linked hypophosphatemia. J Endocr Soc. 2022;6(8):bvac086. doi:10.1210/jendso/bvac086 4. 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. doi:10.1530/EC-13-0103 5. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 9, 2012. Updated April 13, 2017. https://www.ncbi.nlm.nih.gov/books/NBK83985/ 6. Trombetti A, Al-Daghri N, Brandi ML, et al. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol. 2022;18(6):366-384. doi:10.1038/s41574-022-00662-x 7. Dahir K, Dhaliwal R, Simmons J, et al. Health care transition from pediatric- to adult-focused care in X-linked hypophosphatemia: expert consensus. J Clin Endocrinol Metab. 2022;107(3):599-613. doi:10.1210/clinem/dgab796