Multisystem late onset Pompe disease (LOPD): An update on clinical aspects

Ann Transl Med. 2019 Jul;7(13):284. doi: 10.21037/atm.2019.07.24.

PMID: 31392196

Antonio Toscano, Carmelo Rodolico, Olimpia Musumeci

Summary: Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that there is involvement of multiple other organs. Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

Abstract

Background: Pompe disease is divided into two main types based on the age of onset, organ involvement, severity, and rate of progression: the first, infantile onset Pompe disease (IOPD), manifests before the age of 12 months and is characterized by generalized muscle weakness, hypotonia, respiratory distress, and hypertrophic cardiomyopathy. The second type, late onset Pompe disease (LOPD), is marked by hyperCKemia, limb-girdle and axial muscular weakness, often complicated by respiratory muscle degeneration, with onset between the ages of 12 months and adulthood.

Aim: Multiple researches have been conducted in the last 10–15 years in order to clarify the evolving clinical characteristics of Pompe disease, to establish the best diagnostic techniques to identify the condition as early as possible, and to propose novel therapeutic alternatives other than enzyme replacement treatment (ERT). The first treatment for Pompe disease, ERT, has been widely accepted in the majority of countries around the world since 2006. Although Pompe disease was once thought to be predominantly a muscle disorder, it is now obvious that the involvement of multiple other organs has changed the cultural perception of the disease, which is now seen as a multisystem disorder. The spectrum of illness symptoms has been substantially enlarged as a result of developing clinical characteristics. In fact, the central, peripheral, and autonomous nervous systems are commonly engaged; vascular malformations and cardiac involvement are common; and musculoskeletal and bone modifications, as well as oro-gastrointestinal and urinary tract alterations, have become more well-defined.

Conclusion: Great efforts have been made for clarifying the clinical aspects of Pompe disease, raising awareness of the challenges that LOPD patients face, and improving their quality of life.

Keywords: Late onset Pompe disease presentation (LOPD presentation), Pompe disease, aneurysms, hyperCKemia, myopathy