Screening for Late-onset Pompe Disease in Internal Medicine Departments in Spain

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2023 Aug 31

PMID 37653444

Authors

Monica Lopez-Rodriguez

Miguel Angel Torralba-Cabeza

Ivan Perez de Pedro

Alberto Rivera

Roi Suarez Gil

Ana Gomez-Belda

Jose Luis Patier de la Pena

Alberto de Los Santos Moreno

Albert Selva-OCallaghan

Igor Gomez Garate

Andres Gonzalez Garcia

Roberto Hurtado

Pablo Tutor de Ureta

Miguel Angel Barba-Romero

Jose C Milisenda

Josep M Grau-Junyent

Affiliations

Soon will be listed here.

Abstract

Background: The screening of high-risk populations using dried blood spots (DBS) has allowed the rapid identification of patients with Pompe disease, mostly in Neurology departments. The aim of the study was to determine the prevalence of late-onset Pompe disease (LOPD) among patients not previously diagnosed or tested for this entity despite presenting possible signs or symptoms of the disease in Internal Medicine departments in Spain.

Methods: This epidemiological, observational, cross-sectional, multicenter study included a single cohort of individuals with clinical suspicion of LOPD seen at Internal Medicine departments in Spain. The diagnosis of LOPD was initially established on the basis of the result of DBS. If decreased enzyme acid-alpha-1,4-glucosidase (GAA) activity was detected in DBS, additional confirmatory diagnostic measurements were conducted, including GAA activity in lymphocytes, fibroblasts, or muscle and/or genetic testing.

Results: The diagnosis of LOPD was confirmed in 2 out of 322 patients (0.6%). Reasons for suspecting LOPD diagnosis were polymyositis or any type of myopathy of unknown etiology (in one patient), and asymptomatic or pauci-symptomatic hyperCKemia (in the other). The time between symptom onset and LOPD diagnosis was 2.0 and 0.0 years. Both patients were asymptomatic, with no muscle weakness. Additionally, 19.7% of the non-LOPD cases received an alternative diagnosis.

Conclusions: Our study highlights the existence of a hidden population of LOPD patients in Internal Medicine departments who might benefit from early diagnosis and early initiation of potential treatments.

Citing Articles

A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

Laney D, Banks K, Botha E, Keever M, Long V, Foley A Orphanet J Rare Dis. 2025; 20(1):23.

PMID: 39810165 PMC: 11731190. DOI: 10.1186/s13023-024-03425-1.

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