Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis

Frontiers in Cardiovascular Medicine

article

Karolina M. Stepien¹  Andrew Bentley²  Cliff Chen⁵  M. Wahab Dhemech²  Edward Gee⁶  Peter Orton⁶  Catherine Pringle⁷  Jonathan Rajan⁸  Ankur Saxena⁷  Govind Tol⁹  Chaitanya Gadepalli^1,10 

[1] Adult Inherited Metabolic Diseases, Salford Royal National Health Service Foundation Trust;Northwest Ventilation Unit and Sleep Department, Wythenshawe Hospital, Manchester University National Health Service Foundation Trust;Academic Health Sciences Centre, University of Manchester;Intensive Care & Respiratory Medicine, Manchester University National Health Service Foundation Trust;Clinical Neuropsychology, Salford Royal National Health Service Foundation Trust;Trauma and Orthopaedic Surgery, Salford Royal National Health Service Foundation Trust;Neurosurgery, Salford Royal National Health Service Foundation Trust;Manchester and Salford Pain Centre, Salford Royal National Health Service Foundation Trust;Anaesthetics Department, Salford Royal National Health Service Foundation Trust;Ear, Nose and Throat, Salford Royal National Health Service Foundation Trust

关键词: adult mucopolysaccharidosis;    long-term complications;    mortality;    life span;    long-term outcomes;   

DOI  :  10.3389/fcvm.2022.839391

学科分类：地球科学(综合)

来源: Frontiers

【 摘 要 】

Mucopolysaccharidoses (MPS) are a heterogeneous group of disorders that results in the absence or deficiency of lysosomal enzymes, leading to an inappropriate storage of glycosaminoglycans (GAGs) in various tissues of the body such as bones, cartilage, heart valves, arteries, upper airways, cornea, teeth, liver and nervous system. Clinical manifestations can become progressively exacerbated with age and affect their quality of life. Developments in advanced supportive treatment options such as enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT) may have improved patients' life span. Adult MPS patients require specialist clinical surveillance long-term. In many cases, in addition to the MPS-related health problems, they may develop age-related complications. Considering the complexity of their clinical manifestations and lack of guidelines on the management of adult MPS disorders, multispecialty and multidisciplinary teams' care is essential to diagnose and treat health problems that are likely to be encountered. This review presents non-cardiac clinical manifestations, their pathophysiology, management and long-term outcomes in adult MPS patients.

【 授权许可】

CC BY