Registro italiano fibrosi cistica : che cosa è cambiato nell'ultimo decennio

Cystic Fibrosis is the most common life-shortening autosomal recessive disease of Caucasian population. The clinical expression of the disease is heterogeneous and the treatment of CF patients requires high qualification of medical and paramedical staff. In 1992 and 1993, in Italy, two national laws (104/92 and 548/93) were enacted in favour of people affected by CF. Data gathered in the Italian Registry for CF (started on 1.1.1988) allow us to monitor changes occurred in the age structure of patients and diagnosis methods. This also thanks to the laws mentioned above. Data here presented refer to 4,209 patients, 1,964 of whom were alive on 1.1.1988, and 2,245 were diagnosed afterwards. A remarkable increase in early diagnosis (within the 3rd month of life) was noticed (from 41% to 65%), together with an increasing percentage of subjects who underwent a neonatal screening program (+34%). An increase in late diagnoses is also apparent: the frequency for patients diagnosed after 18 years of life ranged from 8% to 12%. The proportion of adult patients is more than doubled between 1988 (17%) and 2000 (41%) and the number of patients over 30 is now about 400. 512 patients died during the study period. Median age at death increased from 14 (1988) to 22 (2000) years. This trend can be observed also for patients diagnosed within the first year of life. All these changes have contributed in modifying age structure of CF population. In late 80's, the latter was mostly composed by children, while now 50% of patients are adolescents or adults. Therefore, it is now necessary to involve specialists of adult diseases in CF care.