Rare diseases mortality in Colombia, 2008-2013

Introduction: Rare diseases are characterized by their low prevalence, often of genetic origin, degenerative and life threatening. Objective: To describe mortality by orphan diseases and to analyze its trends in Colombia from 2008 to 2013. Materials and methods: We conducted a descriptive study to analyze mortality rate trends from the death certificates between 2008 and 2013. We calculated specific mortality rates and adjusted by age and sex. Results: Seven thousand one hundred and thirty five deaths were attributed to orphan diseases, and 51.4 % of them occurred among men of all ages. The mean mortality rate during the study period was 2.53 deaths per 100,000 people. Overall, the trend showed an increasing pattern of mortality although very heterogeneous across the country. Mortality rates were higher in Bogotá (20), and the Andes and the Caribbean regions (5.3 and 3.7 deaths per 100,000 population). The five most important causes of mortality among men were: acute lymphoblastic leukemia, muscular dystrophy, bronchopulmonary dysplasia originating in the perinatal period, multiple sclerosis, Guillain-Barré syndrome and gastroschisis, and among women: multiple sclerosis, acute lymphoblastic leukemia, gastroschisis, bronchopulmonary dysplasia originating in the perinatal period, Guillain-Barré syndrome and acute myeloid leukemia. The mean mortality rate by acute lymphoblastic leukemia was 0.17 deaths per 100,000 men younger than 15 years and that of multiple sclerosis was 0.16 in women over 40 years of age. Conclusion: The causes of death showed a similar pattern in both sexes. However, the burden of mortality was higher among men of all ages in Bogota.