Specific treatment or cure is limited for mucopolysaccharidosis (MPS). Management has been limited to supportive care and experimental treatment modalities. Routine assessment of multiple organ involvement is necessary to maintain the highest quality of life in these patients. Below are some of the medical and surgical treatment modalities that have been attempted for care of the patient with MPS.
Laronidase is a polymorphic variant of the human enzyme alpha-L-iduronidase produced by recombinant DNA technology. It is indicated to treat MPS type I (Hurler and Hurler-Scheie forms). It increases catabolism of glycosaminoglycans (GAGs), which accumulate with MPS I. Laronidase therapy has shown to improve walking capacity and pulmonary function.
Idursulfase is a purified form of human iduronate-2-sulfatase, a lysosomal enzyme. It hydrolyzes 2-sulfate esters of terminal iduronate sulfate residues from the GAGs dermatan sulfate and heparan sulfate in the lysosomes of various cell types. It is used to replace insufficient levels of the lysosomal enzyme iduronate-2-sulfatase in MPS II.
Elosulfase alfa is approved by the US Food and Drug Aministration (FDA) for patients with Morquio A syndrome (mucopolysaccharidosis type IVA [MPS IVA]). A study by Hendriksz et al found evidence to suggest that long-term use of this agent is associated with partial recovery of functional abilities in these patients.
Severe handicapping hearing loss is present in about 70% of patients with MPS. Routine audiologic assessment and management is extremely important in order to maintain the highest quality of life.
Range-of-motion (ROM) exercises at home are indicated to limit the progressive loss of motion that is commonly seen in these patients. Night splinting and occupational aids have also been helpful.
Bone marrow transplantation (BMT) has been successful in the treatment of MPS conditions, especially Hurler syndrome. Children treated with BMT generally have an increased lifespan compared to untreated children. Untreated children commonly died of cardiorespiratory compromise in the first decade of life. However, the musculoskeletal condition (dysostosis multiplex) did not improve with BMT. Skeletal radiographs of children treated with BMT and those who are not treated typically look similar.