Rare Disease Report

Survey Finds Mucopolysaccharidosis Affects Patients' Physical and Emotional Well-Being

FEBRUARY 11, 2015
Christin Melton, ELS, CMPP

A poster presented at WORLDSymposium 2015 showed that mucopolysaccharidosis (MPS) has serious negative effects on almost every facet of life for adults with the disease.1 Organizations that support patients with MPS in the United States and in the United Kingdom collaborated with physicians who specialize in MPS, BioMarin Pharmaceutical Inc., and Ismar Healthcare to develop a 41-question survey for adults living with MPS. The survey was administered online between July and September 2014. According to responses from the 80 UK (n=53) and US (n=27) patients who completed the questionnaire, MPS compromised their ability to work, achieve their educational goals, maintain relationships, and perform activities of daily living. The survey also showed MPS had negative effects on physical and psychological health.

The mean patient age was 32 years, and 54% were currently taking enzyme replacement therapy. More than half (56%) of patients lived with their parents, 22% lived with a partner or spouse, 14% lived alone, and 1% had a live-in caregiver. Approximately 49% used a wheelchair (39% exclusively), and 25% used walking aids. Nearly 46% had to have their homes adapted to accommodate the effects of MPS, and 30% required assistance from a caregiver.

A higher percentage of patients from the United Kingdom than from the United States had a postgraduate degree (60% vs 43%, respectively). Most (58%) acknowledged that medical appointments and infusions had negatively affected their educational pursuits. Forty percent of respondents were unemployed, and 88% said this was primarily because of MPS. Of the 38% of employed patients, only 45% had a full-time position.

The effect of MPS on health-related quality of life was assessed using the EuroQol 5 domains, 5 levels (EQ-5D-5L) questionnaire. With 0 indicating the “worst health you can imagine” and 100 indicating the “best health you can imagine,” the mean EQ-5D-5L score was 64. Overall, 70% of patients had moderate-to-extreme mobility problems, 40% had moderate-to-extreme problems with self-care, 48% had moderate-to-extreme problems with usual activities, 67% had moderate-to-extreme pain or discomfort, and 31% had moderate-to-extreme anxiety or depression. According to the authors, patients in the United Kingdom were more likely to report severe problems with mobility, activities of daily living, anxiety or depression, self-care, and pain than patients in the United States.
Access to medical care was a concern for younger patients, 30% of whom said they “had less or no access to adult specialist” between ages 18 and 21 years. However, more than 30% of patients overall said that they visited a dentist, adult MPS specialist or geneticist, cardiologist, and ophthalmologist each year.

Many patients indicated that MPS had negatively affected friendships and other personal relationships. Approximately 43% said that they believed they had more trouble maintaining relationships than peers. The most common MPS-related problems that hindered patients’ ability to socialize were mobility issues (76%) and pain (60%). Other issues said to frequently affect relationships included self-esteem (39%), sleeplessness (28%), short stature (23%), depression (20%), and breathing problems (20%). A total of 28% of respondents were married or in a relationship. Approximately 13% of patients had been pregnant or had a partner who became pregnant, and 40% were hoping someday to have a child. Of the 6 women with MPS who did conceive, 5 had experienced major complications during pregnancy or delivery.

Mucopolysaccharidoses is a group of genetic lysosomal disorders caused by a deficiency in the enzyme that degrades glycosaminoglycan. Accumulation of glycosaminoglycan in tissues and organs results in varying degrees of physical and cognitive impairment. According to the poster, this survey was a first attempt to measure the effects of MPS on daily living, employment, general health, parenthood, and HRQoL in adults with the disorder. The authors concluded that the results illustrate that “MPS has a great impact on the life and HRQoLlife of adult patients.”  


1.  Lavery C, Wedehase B, Harmatz PR, Hendriksz CJ. Impact of mucopolysaccharidosis on daily living, employment, general health, and parenthood of adult patients. Poster presented at: WORLDSymposium 2015; February 9-13, 2015; Orlando, FL.

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