ECE2022 Poster Presentations Calcium and Bone (68 abstracts)
Disease characteristics, disability, and quality of life in adult HPP patients with muscular symptoms and pain without skeletal manifestations – a cross-sectional analysis from the Global HPP Registry
Kathryn M. Dahir 1 , Gabriel Ángel Martos-Moreno 2 , Agnès Linglart 3 , Anna Petryk 4 , Priya S. Kishnani 5 , Cheryl Rockman-Greenberg 6 , Samantha E. Martel 4 , Keiichi Ozono 7 , Wolfgang Högler 8 & Lothar Seefried 9
1Vanderbilt University Medical Center, Nashville, United States; 2Hospital Infantil Universitario Niño Jesús, Madrid, Spain; 3Paris-Sud University, APHP and INSERM, Paris, France; 4Alexion Pharmaceuticals, Inc., Boston, United States; 5Duke University Medical Center, Durham, United States; 6University of Manitoba, Winnipeg, Canada; 7Osaka University, Suita, Japan; 8Johannes Kepler University, Linz, Austria; 9University of Würzburg, Würzburg, Germany
Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP).
Methods: Baseline/pretreatment data from the Global HPP Registry were analyzed to compare HPP disease burden between adults (≥18 years of age) with skeletal manifestations (history of rickets, biopsy-proven osteomalacia, recurrent or poorly healing fractures/pseudofractures, etc; Skeletal group) and those with only non-skeletal manifestations (history of muscle weakness, fatigue, and/or pain; Non-skeletal group).
Results: Among 468 adults with HPP, 300 comprising the Skeletal group were compared with 73 comprising the Non-skeletal group (Table). The median number of body systems involved at baseline was higher in the Skeletal group than in the Non-skeletal group. Median 6-Minute Walk Test distance was similar between groups, although data in the Non-skeletal group were limited. Pain severity (Brief Pain Inventory-Short Form [BPI-SF]), disability (Health Assessment Questionnaire – Disability Index [HAQ-DI]), and quality of life (Medical Outcomes Study Short Form-36 Health Survey [SF-36]) were also similar between groups.
| Skeletal (n=300) | Non-skeletal (n=73) | |||
| Age at baseline (years) | ||||
| n | 300 | 73 | ||
| Median (min, max) | 50.1 (18.3, 81.2) | 44.4 (19.3, 72.8) | ||
| HPP onset, n (%) | ||||
| Patients with data reported | 299 | 72 | ||
| Perinatal/infantile-onset | 10 (3.3) | 2 (2.8) | ||
| Juvenile-onset | 126 (42.1) | 16 (22.2) | ||
| Pediatric-onset, specific type unknown | 29 (9.7) | 6 (8.3) | ||
| Adult-onset | 95 (31.8) | 34 (47.2) | ||
| Unknown | 39 (13.0) | 14 (19.4) | ||
| Number of body systems impacted per patient | ||||
| n | 282 | 73 | ||
| Median (min, max) | 3 (1, 8) | 2 (1, 5) | ||
| 6-Minute Walk Test, distance walked (meters) | ||||
| n | 41 | 5 | ||
| Median (min, max) | 465 (180, 740) | 466 (316, 580) | ||
| Pain severity (BPI-SF)1 | ||||
| n | 188 | 48 | ||
| Median (min, max) | 3.8 (0.0, 10.0) | 3.6 (0.0, 9.5) | ||
| Disability (HAQ-DI)2 | ||||
| n | 191 | 48 | ||
| Median (min, max) | 0.4 (0.0, 2.7) | 0.3 (0.0, 2.1) | ||
| SF-36 Physical Component Summary Score3 | ||||
| n | 191 | 47 | ||
| Median (min, max) | 40.1 (16.5, 64.7) | 44.2 (17.9, 62.0) | ||
| SF-36 Mental Component Summary Score3 | ||||
| N | 191 | 47 | ||
| Median (min, max) | 42.4 (13.2, 62.3) | 43.9 (20.4, 61.9) | ||
| Scales:1 0-10, lower is less pain; 2 0-3, lower is less disability; 3 0-100, lower is more disability. | ||||
Conclusions: The impairment associated with pain, disability, and general quality of life in patients with HPP who had muscular/pain manifestations without overt bone disease was similar to that in adults who had any skeletal manifestations, regardless of HPP onset. Further analyses are required to understand the disease characteristics of these patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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