Unique medical issues in adult patients with mucopolysaccharidoses

Eur J Intern Med. 2016 Oct;34:2-10. doi: 10.1016/j.ejim.2016.05.017.

PMID: 27296591

John Mitchell, Kenneth I Berger, Andrea Borgo

Highlights: In this article, the distinctive pattern of medical difficulties and multi-organ involvement seen in adult patients with mucopolysaccharidosis (MPS) is highlighted, as well as the obstacles that come with MPS management.

Abstract

Background: Mucopolysaccharidoses are a set of hereditary metabolic diseases characterized by enzyme defects in the sequential breakdown of glycosaminoglycans (GAGs), which results in substrate buildup in numerous tissues and organs. Growth retardation and progressive harm to the respiratory, cardiovascular, musculoskeletal, neurological, gastrointestinal, auditory, and visual systems can result from GAG buildup. Few people with severe phenotypic mucopolysaccharidosis (MPS) have reached adulthood in the past. Better diagnostic procedures, multidisciplinary treatment, and innovative medications, on the other hand, have increased the number of patients who survive past childhood. For clinicians who are unfamiliar with the clinical symptoms of MPS, the expanding number of adult MPS patients poses major hurdles. Furthermore, because new therapies have altered the natural course of many conditions, it is impossible to predict the influence on life expectancy as well as other issues that may arise as these patients grow older. Because MPS disorders are multi-organ diseases, they necessitate a multi-disciplinary approach to treatment.

Objective: In this article, we look at the distinctive pattern of medical difficulties and multi-organ involvement seen in adult patients with MPS, as well as the obstacles that come with MPS management.

Methods: This evaluation is based on material from an expert investigator meeting with MPS specialists held in Dublin, Ireland on October 2-4, 2014, as well as current literature searches on MPS and adults.

Keywords: Adult, Disease management, Enzyme replacement therapy, Lysosomal storage diseases, Mucopolysaccharidoses, Review