Caracterización clínica e impacto de la hipofosfatasia en España: análisis observacional de la cohorte española incluida en el Global HPP Registry

IF 2.6 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

Medicina Clinica Pub Date : 2025-07-25 DOI:10.1016/j.medcli.2025.107120

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

{"title":"Caracterización clínica e impacto de la hipofosfatasia en España: análisis observacional de la cohorte española incluida en el Global HPP Registry","authors":"Carolina Tornero , Gabriel Á. Martos-Moreno , Núria Guañabens , Helena Flórez , Anna Ribera , Pilar Aguado","doi":"10.1016/j.medcli.2025.107120","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>The Global HPP Registry, an observational, prospective, multinational registry of patients with hypophosphatasia (HPP) (<span><span>NCT02306720</span><svg><path></path></svg></span>; 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.</div></div><div><h3>Methods</h3><div>Baseline characteristics of patients included in the Registry by national centres were analysed (5/11/2015-4/03/2024).</div></div><div><h3>Results</h3><div>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 <em>ALPL</em> variants were found in 96.3% of patients and the most frequent were c.343_348dup, c.334G>C, and c.407G>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.</div></div><div><h3>Conclusions</h3><div>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.</div></div>","PeriodicalId":18578,"journal":{"name":"Medicina Clinica","volume":"165 5","pages":"Article 107120"},"PeriodicalIF":2.6000,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicina Clinica","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0025775325003483","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 0

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.334G >C, and c.407G >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.

查看原文本刊更多论文

西班牙低磷酸血症的临床特征和影响：全球HPP登记西班牙队列的观察分析

HPP Global Registry是一项观察性、前瞻性、跨国的HPP患者注册项目(NCT02306720；EUPAS13514)于2015年启动。本研究的目的是评估纳入国家登记的患者的症状和疾病的影响。方法分析国家中心登记患者的基线特征（5/11/2015-4/03/2024）。结果83例患者中，18岁以下16例（19.3%），成人67例（80.7%）。中位诊断时间为4.8(最小：0；最长：49.9年。在儿科患者中，症状发作时的中位年龄为4岁(最小为1.2岁；最长为11.8岁，最常见的症状是牙齿（37.5%）、神经系统（25%）和骨骼（18.8%）。23.7%的成年人在18岁之前开始出现hp相关症状，最常见的症状是疼痛（64.2%）、牙齿（50.7%）和骨骼（32.8%）。杂合ALPL变异发生率为96.3%，以C .343_348dup、C . 334g >；C和C . 407g >；A最为常见。在成人患者中，患者报告的结果(中位数[Q1；Q3])在生活质量问卷（SF-36v2）（量表0-100）上的得分为：身体成分为44.8(34.5;50.2)，精神成分为50.4（38.9;56.5）。结论HPP的诊断存在明显的延迟。最常见的表现是儿科患者的牙齿和成人的疼痛，并对生活质量产生相关影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Medicina Clinica 医学-医学：内科

CiteScore

3.10

自引率

5.10%

发文量

295

审稿时长

22 days

期刊介绍： Medicina Clínica, fundada en 1943, es una publicación quincenal dedicada a la promoción de la investigación y de la práctica clínica entre los especialistas de la medicina interna, así como otras especialidades. Son características fundamentales de esta publicación el rigor científico y metodológico de sus artículos, la actualidad de los temas y, sobre todo, su sentido práctico, buscando siempre que la información sea de la mayor utilidad en la práctica clínica.