Health-related quality of life in people with hereditary multiple exostoses.

Background: Hereditary multiple exostoses (HME) is a rare genetic disorder, which can be associated with severe complications that may significantly affect the health-related quality of life (HRQL). Our primary objective was to describe the baseline HRQL in HME individuals at the British Columbia's Children's Hospital HME clinic and the Multiple Hereditary Exostoses Coalition compared with relevant Canadian and US population norms. This is the first study to explore the HRQL among adults and children with HME.

Methods: Previously validated instruments Short Form-36 version 2, Short form-6D, and Child Health Questionnaire Parent Form 50 were used to assess the HRQL of individuals with HME. The scores from these instruments were compared with the relevant population norms. The British Columbia's Children's Hospital and Multiple Hereditary Exostoses coalition populations were also compared with each other.

Results: The study sample consisted of 100 participants including 57 adults and 43 children. The mean age for Short Form 36 version 2 survey was 40.10±13.01 years and for Child Health Questionnaire Parent Form 50 was 9.93±3.48 years. Adult HME population had lower scores than both the US and Canadian general population in all domains except for emotional role limitations. Short Form -6D utility scores (0.65) indicates the quality of life for some individuals is near death and for others it is comparable or better than individuals with rheumatoid arthritis. Children with HME scored less than the US general population; particularly lower scores were seen in bodily pain (51.2 vs. 81.7) and emotional self-esteem (52.0 vs. 79.8).

Conclusions: HME population has lower HRQL than the general population. These data provide a benchmark for individuals with HME. From such data, future research on HME disease progression and effectiveness of treatments/interventions can be tracked over time.

Level Of Evidence: Level II, This is a prognostic, prospective study with participants enrolled at different points in their disease.