Doença de Pompe de início tardio: uma revisão da literatura

Abstract

Pompe disease is a rare recessive genetic disorder also known as acid alpha-glucosidase deficiency. The lack of activity of this lysosomal enzyme leads to glycogen accumulation and cellular damage, particularly in skeletal muscle and the heart. Its multisystemic involvement results in high morbidity and mortality, especially in the classic infantile form, making early diagnosis crucial for effective treatment. Therefore, increased awareness among healthcare professionals about this condition is essential. The late-onset form of the disease presents a broad clinical spectrum, ranging from axial muscle weakness and chronic respiratory insufficiency due to diaphragmatic dysfunction to exercise intolerance and fatigue, requiring a high degree of clinical suspicion. The natural history of this disease has been transformed by enzyme replacement therapy with recombinant human acid alpha-glucosidase, which has led to increased survival and stabilization of muscle function. However, this approach still has significant limitations, and Pompe disease remains a life-threatening condition that imposes substantial limitations on patients. For this reason, numerous studies in various clinical phases are underway to identify better therapeutic options that may improve survival, quality of life, or even cure the disorder.