ESPE2021 ePoster Category 1 Bone A (10 abstracts)
Real-world clinical profiles of children with hypophosphatasia (HPP) from the Global HPP Registry
Gabriel Martos-Moreno 1 , Agnès Linglart 2 , Anna Petryk 3 , Priya Kishnani 4 , Cheryl Rockman-Greenberg 5 , Kathryn Dahir 6 , Lothar Seefried 7 , Shona Fang 3 , Keiichi Ozono 8 & Wolfgang Högler 9
1Hospital Infantil Universitario Niño Jesús, IIS La Princesa; Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain; 2Paris-Sud University, APHP and INSERM, Paris, France; 3Alexion Pharmaceuticals, Inc., Boston, USA; 4Duke University Medical Center, Durham, USA; 5University of Manitoba, Winnipeg, Canada; 6Vanderbilt University Medical Center, Nashville, USA; 7University of Würzburg, Würzburg, Germany; 8Osaka University, Osaka, Japan; 9Department of Paediatrics and Adolescent Medicine, Linz, Austria
Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mutation) enrolled in the Global HPP Registry were analyzed (1) to better understand the most common clinical profiles of children with HPP and (2) to evaluate the potential differences in baseline signs and symptoms prior to the decision to start treatment with the enzyme replacement therapy (ERT) asfotase alfa. In the whole cohort, the median age at enrollment was 5.4 years and 52.6% were girls. Based on medical history, dental issues constituted the most frequent symptoms (56.0%; mostly early loss of primary teeth). Skeletal manifestations, including bone deformity, rickets, and other signs/symptoms, were observed in 45.2% of children. A subset of patients reported failure to thrive (21.1%) and muscle weakness (20.7%). Only a small proportion of patients reported recurrent fractures or pseudofractures (7.4%). Of 323 children, 151 received ERT, while 172 did not. Untreated patients had a median of 2 HPP signs and symptoms, predominantly dental manifestations. In contrast, patients who eventually received ERT had a median of 4 HPP signs and symptoms at baseline, and had a proportionally higher frequency of bone deformity, rickets, failure to thrive, muscle pain and weakness, and gross motor impairment compared with untreated patients. These results establish real-world clinical profiles of children with HPP. At baseline, dental manifestations were frequent in both groups of patients, and the predominant in those not receiving ERT whereas skeletal manifestations were the most important ones in the group receiving ERT. Baseline medical history, however, documented systemic manifestations of HPP in both the ERT treated and untreated groups including muscle pain, muscle weakness, and abnormal gait. These findings highlight the importance of considering non-skeletal manifestations as part of the clinical spectrum of HPP and in the initiation of ERT.
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