Document Type
Article
Publication Date
8-16-2019
Identifier
DOI: 10.1186/s13023-019-1167-5; PMCID: PMC6698035
Abstract
BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, including bone mineralization defects and systemic complications. The burden of disease is poorly characterized, particularly in children. This study aimed to characterize the patient-reported burden of disease among children with HPP using two survey instruments: the HPP Impact Patient Survey (HIPS) and the HPP Outcomes Study Telephone interview (HOST).
METHODS: Between September 2009 and June 2011, pediatric patients (aged younger than 18 years) with HPP were recruited to participate in the study via patient advocacy groups or their medical provider. Survey questions were used to capture information on patient demographics, HPP-related medical history, mobility, and health-related quality of life (HRQoL; using the 10-item Short-Form Health Survey for Children [SF-10], HIPS only).
RESULTS: Common clinical features of the 59 pediatric survey respondents (mean [standard deviation] age: 7.6 [5.1] years; 51% male) included pain (86% of patients), muscle weakness (71%), difficulty gaining weight (64%), and delayed walking (59%). Fracture was reported by 36% of patients; multiple fractures were also reported (15% of patients). Use of assistive devices for mobility was frequent among the study population (51%). In response to the SF-10, patients reported a substantial impact of HPP on their HRQoL; physical function was the most severely impaired component relative to normative data. Of patients responding to the HOST, two-thirds experienced worsening of at least one of their HPP-related signs/symptoms over a 5-year period.
CONCLUSIONS: In pediatric patients, HPP is associated with a high burden of disease and a substantial negative impact on HRQoL. The burden of HPP may increase and HRQoL reduce further over time as signs/symptoms that affect HRQoL worsen or new signs/symptoms manifest.
Journal Title
Orphanet J Rare Dis
Volume
14
Issue
1
MeSH Keywords
Adolescent; Child; Child, Preschool; Cost of Illness; Cross-Sectional Studies; Female; Fractures, Bone; Humans; Hypophosphatasia; Infant; Infant, Newborn; Male; Muscle Weakness; Pain; Quality of Life; Surveys and Questionnaires; Telephone
Keywords
Disease burden; Health-related quality of life; Hypophosphatasia; Survey; Symptoms
Recommended Citation
Rush ET, Moseley S, Petryk A. Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview. Orphanet J Rare Dis. 2019;14(1):201. Published 2019 Aug 16. doi:10.1186/s13023-019-1167-5
Included in
Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Musculoskeletal Diseases Commons, Pediatrics Commons
Comments
This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
Publisher's Link: https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1167-5