Dataset Information

Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

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.

SUBMITTER: Lopez-Rodriguez M

PROVIDER: S-EPMC10472593 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature

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Publications

Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

López-Rodríguez Mónica M Torralba-Cabeza Miguel Angel MA de Pedro Iván Pérez IP Rivera Alberto A Gil Roi Suarez RS Gómez-Belda Ana A de la Peña Jose Luis Patier JLP de Los Santos Moreno Alberto A Selva-O'Callaghan Albert A Gárate Igor Gómez IG García Andrés González AG Hurtado Roberto R de Ureta Pablo Tutor PT Barba-Romero Miguel Ángel MÁ Milisenda José C JC Grau-Junyent Josep M JM

Orphanet journal of rare diseases 20230831 1

<h4>Background</h4>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.<h4>Methods</h4>This epidemiological, observational, ...[more]

PMID: 37653444

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Project description:Importance Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may be uninformative; thus, non-invasive imaging is needed to assess early LOPD muscle changes. Muscle ultrasound (US) measuring echointensity (EI) is a non-invasive measure of muscle health. Objective In this study, we aimed to evaluate if EI can identify characteristic patterns of muscle involvement in LOPD patients identified by NBS. Design/setting Prospective, cross-sectional, single time point study. Setting One-center study. Participants We examined 20 infants with NBS-identified LOPD (ages 5–20 months). All had standardized physical therapy assessments. Exposures Creatine Kinase (CK) and Urine Hexose Tetrasaccharide (Glc4) were obtained. Muscle US of deltoid, biceps brachii, forearm flexors, thoracic paraspinals, gluteus maximus, quadriceps, tibialis anterior and medial gastrocnemius was performed. Main outcomes and measures Mean EI was calculated for all involved muscle groups. Quantitative EI Sum Scores were calculated as total EI divided by number of muscle groups assessed. We performed a comprehensive literature review to compare our results to previous LOPD muscle ultrasound studies. Results Six of 20 participants had elevated CK and 15 had Conclusions and relevance In this study, muscle EI was elevated most often in the quadriceps, tibialis anterior, medial gastrocnemius, thoracic paraspinals, and biceps brachii. Involved muscles generally fit the profile of physical and muscle ultrasound/MRI exam findings in LOPD patients. Muscle ultrasound is recommended for rapid, focused muscle assessment in LOPD, especially those identified via NBS. Future studies should focus on this pattern of ultrasonographic abnormality and changes over time. Highlights • Question: Is there an ultrasonographic pattern of involved muscles in LOPD patients found by Newborn Screening?• Findings: Based upon muscle EI, the most affected muscles were the quadriceps, medial gastrocnemius, andthoracic paraspinals.• Meaning: Muscle ultrasound can identify affected muscles in infants with LOPD who were diagnosed after positive Newborn Screening.

Project description:IntroductionThe lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.MethodsBetween August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China. The inclusion criteria were as follows: (1) age ≥ 1 year and (2) either one of the following conditions: (a) persistent hyperCKemia, (b) muscle weakness of the axial and/or limb-girdle muscles, or (c) unexplained restrictive respiratory insufficiency (RI). Enzymatic activity of acid α-glucosidase (GAA) was measured in a dried blood spot (DBS) using a tandem mass spectrometry (MS/MS) assay. Next-generation sequencing (NGS) was used to evaluate all samples with decreased GAA activity, searching for GAA mutations and pseudodeficiency alleles.ResultsAmong the 492 cases, 26 positive samples (5.3%) were detected in the DBS test. Molecular studies confirmed a diagnosis of LOPD in eight cases (1.6%). Using MS/MS assay, GAA activities in individuals with pseudodeficiency could be distinguished from those in patients with LOPD. The median interval from the onset of symptoms to diagnosis was 5 years. All patients also showed RI, with a mean forced vital capacity (FVC) of 48%, in addition to axial/proximal muscle weakness. The creatine kinase (CK) level ranged from normal to no more than 5-fold the upper normal limit (UNL). LOPD with isolated hyperCKemia was not identified.ConclusionLess frequent hyperCKemia and predominant RI depict a different early portrait of adult Chinese patients with LOPD. A modified high-risk screening strategy should be proposed for the early diagnosis of Chinese patients with LOPD.

Dataset Information

Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

Background

Methods

Results

Conclusions

Publications

Screening for late-onset Pompe disease in Internal Medicine departments in Spain.

Similar Datasets

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