Mortality in Patients with Morquio Syndrome A

摘要

Background: Morquio syndrome A (mucopolysaccharidosis type IVA) is an autosomal recessive, life-limiting lysosomal storage disease characterized by deficient activity of the enzyme galactosamine-6-sulfatase. The disease affects multiple body systems, and patients require multidisciplinary care from an early age.Methods: To better understand the natural progression of the disease, life expectancy and common causes of death, death certificates were evaluated for 27 patients (15 male, 12 female) with Morquio syndrome A in the UK, covering the years 1975–2010.Results: Mean age at death (±standard deviation) was 25.30 ± 17.43 years, with female patients living longer than male patients (26.55 ± 12.28 years versus 22.95 ± 17.63 years, respectively). Respiratory failure was the primary cause of death in nearly two-thirds of patients (63%). Other causes of death were cardiac failure (11%), post-traumatic organ failure (11%), complications of surgery (11%) and myocardial infarction (4%). Life expectancy increased gradually over time (R² = 0.0963), and mean age at death due to respiratory failure improved from 17.42 ± 9.54 years in the 1980s to 30.74 ± 10.84 years in the 2000s.Conclusions: The current data suggest that survival of patients with Morquio syndrome A in the UK has improved in recent decades. It is possible that improvements in multidisciplinary care and referral of patients to specialist centres underlie this trend. It is hoped that novel disease-specific treatments such as enzyme replacement therapy and haematopoietic stem cell therapy will help to extend the lifespan of patients with Morquio syndrome further still.