Pompe disease is an inherited disease linked to the dysfunction of a lysosomal enzyme involved in the physiological glycogen breakdown. Transmitted on an autosomal recessive mode, it results in overload myopathy which can also affect the heart, mainly in infants. Enzyme replacement therapy (ERT) significantly changed the course of the disease, especially in children. Gastrointestinal symptoms or complications can be hallmarks of the disease but are poorly studied, especially in the late onset form (LOPD).
In an article published in July 2021, American researchers were interested in these aspects by studying the histopathological lesions of the digestive tract of a murine model inactivated for the GAA gene, and second by carrying out a survey in patients suffering from LOPD using standard questionnaires but also judgment criteria defined by the patients themselves (PROMIS-GI). The study in mice confirmed the presence of glycogenic overload in the intestinal wall, indicating damage to the smooth musculature which appears to be less sensitive to the short-term detergent effect of ERT. Gastrointestinal disorders are particularly frequent and poorly managed in adult LOPD, hence the need, suggested by the authors, for regular monitoring of these disorders.