Journal
METABOLISM-CLINICAL AND EXPERIMENTAL
Volume 65, Issue 10, Pages 1522-1530Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.metabol.2016.07.006
Keywords
Hypophosphatasia; Metabolic bone disease; Burden of illness; Patient reported outcomes
Categories
Funding
- Alexion Pharmaceuticals, Inc.
Ask authors/readers for more resources
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. (C) 2016 Published by Elsevier Inc.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available