Pompe disease: diagnosis and management


Petrauskaite Ieva1, Sarnauskas Tomas1, Grineviciute Migle 2


1 Lithuanian University of Health Sciences, Faculty of Medicine, Kaunas, Lithuania

2 Hospital of Lithuanian University of Health Sciences Kaunas Clinics, Department of Internal Medicine, Kaunas, Lithuania


Background and aim: Pompe disease is a very rare, severe, progressive metabolic myopathy which affects the heart and skeletal muscles and results in neuromuscular dysfunction. It is difficult to diagnose because it is a rare disease that has a wide range of symptoms and is very similar to other neuromuscular diseases. The aim of this article is to review each form of Pompe disease and its expressions, investigation methods and possible treatments.

Materials and methods: scientific literature analysis was performed. The data was collected from March to April in 2021 using PubMed, Medscape, UpToDate international databases.

Results: 31 scientific articles about Pompe disease expressions, investigation methods and treatment possibilities were found and analysed.

Conclusion. There are three forms of Pompe disease distinguished based by the time when the first symptoms appear and whether the heart is damaged or not. Pathogenetically all three forms are similar – genetic changes lead to impaired glycogen splitting, and as a result it is stored in body tissues. Therefore, laboratory and instrumental diagnostics are based on finding mentioned glycogen storage and identifying injury of the heart and skeletal muscles. Despite of the scientific progress and growing interest – the illness is incurable. The most effective treatment for now is enzyme replacement therapy, which has to be used constantly throughout life. Symptomatic treatment, gene therapy may also be used, depending on the symptoms of the disease.

Discussion. The aim of this article is to draw attention to clinical manifestations, diagnosis and treatment options of rare diseases such as Pompe disease. In our opinion it is important to train all medical specialists to detect early signs of this myopathy and differentiate from other neuromuscular pathologies. Due to its rarity, Pompe disease probably won’t be included in neonatal screening program in Lithuania.

Keywords: Pompe disease, myopathy, enzyme replacement therapy, gene therapy.