Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys.

Journal Article (Journal Article)

BACKGROUND: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline (TNSALP) phosphatase gene, which manifests as rickets and/or osteomalacia with systemic complications and affects patients of all ages. The burden of disease is poorly characterized in adult patients. AIMS: We assessed patient-reported burden of disease using two surveys reasonably specific for HPP symptomatology, the Hypophosphatasia Impact Patient Survey (HIPS) and the Hypophosphatasia Outcomes Study Telephone interview (HOST). METHODS: Patients with HPP were invited to participate via patient advocacy groups or their medical provider. Survey questions captured demography, HPP-related medical history, mobility, and health-related quality of life (using Short Form 12 [version 2] Health Survey [SF-12v2]) via internet report (HIPS) or telephone interview (HOST). RESULTS: One hundred twenty-five adults responded (mean [standard deviation, SD] age: 45 [14.3] years). Eighty-four patients (67%) reported pediatric-onset of their symptoms. Common clinical features in the study population included pain (95% of patients), fractures (86% of patients) muscle weakness (62%) and unusual gait (52%). Use of assistive devices for mobility (60%) was also prevalent. Twenty-six percent of patients reported more than 10 fractures. Seventy-four percent of patients had undergone orthopedic/dental surgical procedures. The health profile of patients responding on the SF-12 showed a broad and substantial impact of HPP on health-related quality of life, with domains related to physical ability showing the greatest decrement compared to normative data. CONCLUSIONS: In aggregate, these data indicate that HPP can confer a high burden of illness in adulthood.

Full Text

Duke Authors

Cited Authors

  • Weber, TJ; Sawyer, EK; Moseley, S; Odrljin, T; Kishnani, PS

Published Date

  • October 2016

Published In

Volume / Issue

  • 65 / 10

Start / End Page

  • 1522 - 1530

PubMed ID

  • 27621187

Electronic International Standard Serial Number (EISSN)

  • 1532-8600

Digital Object Identifier (DOI)

  • 10.1016/j.metabol.2016.07.006


  • eng

Conference Location

  • United States