Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis

Abstract

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.

Pain management challenges in a patient with mucopolysaccharidosis IVA

“…From the time of diagnosis, patients with this condition require a multidisciplinary biopsychosocial approach to their physical health care, including pain management. 10 , 11 …”

Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases

“…Angiokeratomas are present in certain oligosaccharidoses [ 39 ] and abundant dermal melanocytosis is common in children with MPSs [ 62 , 63 ]. However, other skin disorders have also been observed in adults with MPS disorders [ 64 ]. Farber disease has a classic triad that encompasses a hoarse voice, subcutaneous nodules, and joint deformities.…”

“…The skeletal survey can identify dysostosis multiplex that includes findings like J-shaped sella, the thickening of diploic spaces, short and thick clavicles, broad oar-shaped ribs, dysplastic vertebral bodies, scoliosis, inferior pelvic tapering, rounded iliac wings, hip dysplasia, shortened long bones with hypoplastic epiphyses, short and wide metacarpals with thin cortices and proximal pointing, irregular and hypoplastic carpal and tarsal bones. Dysostosis multiplex is characteristic of MPSs, oligosaccharidoses and mucolipidoses [ 39 , 60 , 64 ]. Bone infarction, arthropathy, and lytic lesions are classical features of Gaucher disease [ 76 ], while reduced bone mineral density is a feature of Gaucher disease and ASMD, especially in adult patients [ 77 ].…”

Airway and Anaesthetic Management of Adult Patients with Mucopolysaccharidoses Undergoing Cardiac Surgery

“…Mucopolysaccharidosis (MPS) describes a heterogenous group of rare congenital lysosomal storage disorders with a combined annual incidence of 1:22,000 [ 1 ]. The disease results from a deficiency of enzymes required to metabolise complex mucopolysaccharides called glycosaminoglycans (GAGs) [ 2 ] which in turn leads to their accumulation in soft tissues including the airways and lungs, heart valves, aorta and coronary arteries, liver and spleen, bones and the central nervous system [ 3 , 4 ]. This leads to multisystem morbidity and reduced longevity.…”