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Leticia Nunes Campos¹, Israel Davila Rivera¹, Daiana M Ibañez Alegre¹

¹Rare Diseases, Rare Diseases Community (RDCom), Buenos Aires, ARG.

|December 16, 2024

Summary

This review highlights challenges in diagnosing and managing Pompe disease (PD). It identifies common screening, diagnostic, and follow-up methods but stresses the need for standardization in reporting and care to improve patient outcomes.

Keywords:

cardiomyopathy hypertrophic lysosomal storage diseases muscle weakness rare diseases storage disease type ii

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Area of Science:

Biochemistry
Genetics
Rare Diseases

Background:

Pompe disease (PD) is a rare, progressive, autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency.
Multisystemic involvement in PD leads to significant morbidity and reduced quality of life.
Despite available treatments, diagnosis and management of PD remain challenging.

Purpose of the Study:

To synthesize evidence on screening, diagnostic, and follow-up methods for Pompe disease.
To identify prevalent techniques and highlight areas needing standardization.

Main Methods:

Scoping review of 2,139 articles published from 2017 to February 2022 in English and Spanish.
Included primary studies, reviews, and guidelines on PD assessment methods.
Data synthesis through narrative summaries and descriptive statistics.

Main Results:

96 articles were included, focusing on late-onset PD (LOPD) and infantile-onset PD (IOPD).
Common clinical signs include hypotonia and cardiomyopathy (IOPD), muscle weakness and dyspnea (LOPD).
Dried blood spots (DBS) are common for GAA deficiency detection, but reporting lacks standardization; next-generation sequencing is the gold standard for genetic identification.

Conclusions:

Current methods for PD screening, diagnosis, and follow-up are varied.
Standardization in reporting biochemical assays, genetic testing, and clinical presentations is crucial.
A critical lack of consensus exists for PD monitoring strategies, impacting research comparability and healthcare quality.