The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey.

ABSTRACT:

Context

X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We aimed to understand the burden of disease of XLH across the lifespan.

Methods

Responses were collected from adults with XLH and parents/caregivers of a child with XLH in an online survey, including multiple-choice and open-ended questions on demographics, disease manifestations, treatment history, assistive device use, and age-specific patient-reported outcomes (PROs).

Results

Data were collected from 232 adults with XLH (mean age, 45.6 years; 76% female) and 90 parents/caregivers of a child with XLH (mean age, 9.1 years; 56% female). Mean age recalled for symptom onset was 3.2 years for adults and

SUBMITTER: Skrinar A 

PROVIDER: S-EPMC6595532 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature