chapter  Chapter 31
14 Pages

Liver Disease in Cystic Fibrosis

WithCarla Colombo, Pier Maria Battezzati, Clara Fredella, Andrea Crosignani

Cystic fibrosis (CF) is a multi-organ genetic disorder of the Caucasian population, affecting between 1 in 2000 and 1 in 4500 newborns in different ethnic groups. Progressive pulmonary disease limits survival and quality of life of most patients with CF. When the disease was first described in 1938 by Andersen,1 median survival was less than 1 year. The classic form involves characteristic findings most frequendy in lungs, exocrine pancreas, sweat glands and, in males, the Wolffian ducts, and is generally related to the presence of two severe mutations. Non classic forms of CF, which occur in 10% of cases, have been associated with mild mutations and are characterized by clinical disease in only a subgroup of organs involved in CF and residual pancreatic function. The typical hepatic manifestation of CF is focal biliary cirrhosis, which results from biliary obstruction and progressive periportal fibrosis.