What is it like living with X-linked hypophosphatemia?: results from an Australian consumer survey.

ABSTRACT: X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr. Median age at diagnosis was 2 yr (IQR 1.5-3.0). There was a high burden of surgical intervention: 59% reported 5 or more surgeries and 33% (15) had major dental procedures. Bone deformities and painful bones/joints were rated as the most impactful symptoms for both children and adults with XLH with 54% of participants r

SUBMITTER: Sandy JL 

PROVIDER: S-EPMC12723801 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature