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We need screening for Pompe disease, doctors warn

MedExpress Team

Piotr Wójcik

Published April 17, 2023 21:24

We need screening for Pompe disease, doctors warn - Header image
Fot. Getty Images/iStockphoto
Early diagnosis and timely implementation of enzyme replacement therapy are the most important determinants of Pompe disease, doctors remind. Unfortunately, the late form of the disease, which is predominant, is often detected at a late stage. Several factors contribute to this, but what could solve the problem and lead to diagnosis as early as the pre-symptomatic stage is newborn screening.

Pompe disease is a rare genetic disease. It has two forms. In the early form, associated with infancy, the diagnosis is usually made fairly quickly, because the disease has a very turbulent course. In the late form, it initially manifests with many unrelated symptoms, such as muscle pain, breathing problems, headaches and insomnia. Over time, these symptoms worsen, sometimes becoming life-threatening. The late form occurs in the largest group of patients.

- What should raise suspicion of the disease are abnormalities in the laboratory test. The enzyme in question is creatine kinase. Its level is elevated, even before symptoms appear. Added to this are symptoms related to weakness of the leg muscles in particular. Walking up stairs or standing up from a squatting position is difficult. It's also the early onset of respiratory failure, shortness of breath, to which patients adapt relatively well for a long time. However, there can be dramatic symptoms, for example, with a theoretically harmless upper respiratory tract infection," says Professor A...

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