Epidemiological characterization of patients with Pompe disease and their quality of life during the onset of the COVID-19 pandemic

Abstract

Pompe disease is a rare disease, known as type II glycogenesis. It is classified into two forms, the first is infantile, they manifest before the first year of life, the classic form presents with cardiomyopathy and corresponds to the most severe extreme. The second is late-onset, usually involves the extremities and the diaphragm, progressive myopathy occurs, little cardiac involvement but great involvement of the accessory respiratory muscles, which leads to relatively early respiratory failure, this being the main cause of death. the objective of this study was to describe the quality of life of a group of patients with Pompe disease Descriptive cross-sectional study in 27 patients with Pompe disease. The data collection was done from March 9 to May 20, 2020 by Google Form. The Medical Outcomes Study 36-Item Short Form (SF-36) was applied. The mean age is 40.52 years, 59% female, 51% married, 63% active in the workplace, the mean age of diagnosis was 30.3 years (SD = 15,557), 66.7% do not use a wheelchair to move around and 96.3% are on enzyme therapy. The pompe is highly disabling when it affects more in the physical dimensions, however patients can actively play their social and family role. Follow-up studies are required to demonstrate the impact of the pandemic on the application of enzyme therapy.