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



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).



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).



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.



In aggregate, these data indicate that HPP can confer a high burden of illness in adulthood.
Duke University Medical Center, 08 Baker House, DUMC 3470, Durham, NC, 27705, USA. Electronic address: thomas.weber@duke.edu.
Thomas J
TJ
Weber
Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT 06510, USA.
Eileen K
EK
Sawyer
Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT 06510, USA.
Scott
S
Moseley
Alexion Pharmaceuticals, Inc., 100 College Street, New Haven, CT 06510, USA.
Tatjana
T
Odrljin
Duke University Medical Center, 08 Baker House, DUMC 3470, Durham, NC, 27705, USA.
Priya S
PS
Kishnani
D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000553:Ambulatory Care / Q000706:statistics & numerical data; D017281:Cost of Illness; D005260:Female; D050723:Fractures, Bone / Q000453:epidemiology / Q000209:etiology; D020233:Gait Disorders, Neurologic / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D007014:Hypophosphatasia / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D051346:Mobility Limitation; D018908:Muscle Weakness / Q000453:epidemiology / Q000209:etiology; D010146:Pain / Q000453:epidemiology / Q000209:etiology; D011788:Quality of Life; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D055815:Young Adult
Burden of illness; Hypophosphatasia; Metabolic bone disease; Patient reported outcomes