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Clinical characterization and impact of hypophosphatasia in Spain: An observational analysis of the Spanish cohort included in the Global HPP Registry

Year: 2025

Type: article

Abstract: Background The Global HPP Registry, an observational, prospective, multinational registry of patients with hypophosphatasia (HPP) ( NCT02306720 ; EUPAS13514), was initiated in 2015. The aim of this study is to assess the symptomatology and impact of the disease in patients included in the national registry. Methods Baseline characteristics of patients included in the Registry by national centres were analysed (5/11/2015–4/03/2024). Results Of the 83 patients, 16 (19.3%) were under 18 years of age and 67 (80.7%) were adults. Median time to diagnosis was 4.8 (minimum: 0; maximum: 49.9) years. In paediatric patients, median age at symptom onset was 4 (minimum: 1.2; maximum: 11.8) years and the most prevalent symptoms were dental (37.5%), neurological (25%), and skeletal (18.8%). 23.7% of adults started with HPP-related symptoms before the age of 18 years and the most frequent symptoms were pain (64.2%), dental (50.7%), and skeletal (32.8%). Heterozygous ALPL variants were found in 96.3% of patients and the most frequent were c.343_348dup, c.334 G > C, and c.407 G > A. In adult patients, patient-reported outcomes (median [Q1; Q3]) on the quality of life questionnaire (SF-36v2) (scales 0–100) were 44.8 (34.5;50.2) for the physical component and 50.4 (38.9;56.5) for the mental component. Conclusions There is a significant delay in the diagnosis of HPP. The most frequent manifestations were dental in paediatric patients and pain in adults, with a relevant impact on quality of life.

Source: Medicina Clínica (English Edition)

DOI: 10.1016/j.medcle.2025.107120

Authors: Carolina Tornero, Gabriel Á. Martos-Moreno, Núria Guañabens, Helena Flórez, Anna Ribera, Pilar Aguado