Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey

Abstract

Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by reduced iduronate-2-sulfatase activity. Patients experience broad ranging signs and symptoms, including bone and joint manifestations. This study reported on orthopedic involvement and management in patients with MPS II using 15 years of data from the Hunter Outcome Survey (HOS). Of the 245 patients in the study population, 90.2% had skeletal deformity (median onset, 2.8 years), 76.7% had upper body stiffness (onset, 4.2 years), and 61.2% had lower body stiffness (onset, 5.3 years); 63.7% of patients had at least three joint manifestations. Orthopedic manifestations were common in adults and children with MPS II, and in patients with and without cognitive impairment. Joint range of motion (JROM) was restricted in all joints assessed (shoulder, elbow, hip, wrist, knee, and ankle). Little correlation was observed between JROM measurements, subjective reports of joint stiffness and limited function, and 6-minute walk test results. Patients with joint stiffness and limited function were generally more likely to have central and peripheral nervous system, pulmonary, and cardiovascular manifestations than those without these symptoms. Carpal tunnel decompression was the most common orthopedic surgery (recorded in 49/245 patients [20.0%]), but orthopedic surgeries were uncommon overall. Our findings highlight the need for routine monitoring of orthopedic manifestations using multiple assessment types in patients with MPS II to help inform clinical decision-making and improve patient quality of life. They also underline the contribution of factors other than orthopedic manifestations to the walking ability of patients with MPS II.