Gender-related health in Tuscany

Rare diseases (RDs) are a group of approximately 7-8,000 diseases characterized by a prevalence of less than 5 cases per 10,000 persons. According to Decree 279/2001 which established the National Registry of RDs, the Tuscany Region implemented a framework to identify the public health districts for the RDs regional network of Reference Centres. In 2006, the Tuscany Registry of RDs, coordinated by the Tuscany Region and managed by the Fondazione Toscana "G. Monasterio", became fully operative. The registration concerns the entire region involving all public health districts (www.malattierare.toscana.it). To date 27,344 patients (54% females) have been registered, accounting for 461 different RDs (365 according to the national list, 73 according to the regional list, 23 included for epidemiological purposes). 32% of the RDs involved 'nervous system/sense organs', 20% 'endocrine-nutritionmetabolism- immune system', 17% 'congenital malformations'. Males were more represented in RDs of the 'respiratory system' (65%), 'hematopoietic organs' (61%), 'congenital malformations' (53%). Females were more represented in RDs of the 'musculoskeletal/connective system' (87%), the 'digestive system' (70%), the 'circulatory system' (69%). Considering the 35 RDs with at least 30 new cases collected in 2008-2012, the ratio between male and female (M/F) was compared with the ratio observed in the regional population, with and without adjustment for 5 age classes