Cystic fibrosis (CF) is a common lethal genetic disease in the North American population, affecting 1: 2500 births. There are about 30,000 individuals in the United States with CF, and approximately 1,000 new cases annually. Although declining lung function is the most common cause of mortality in CF [1],[2],[3], liver disease is the third leading cause of death, accounting for 2.5% of overall mortality [4],[5]. In this review, we will outline proposed definitions of liver disease in CF and review the epidemiology, diagnosis, proposed pathogenesis, management and outcome of liver disease in CF focusing on multilobular cirrhosis with or without portal hypertension.

While the liver is likely involved to some degree in all individuals with CF, most individuals will not develop cirrhosis, which is what most authors consider clinically significant liver disease. CF related liver disease (CFLD) is a nonspecific term without a consistent definition that has been used to refer to several liver disorders often with wide a spectrum of severity and impact on outcome, leading to confusion when comparing disease history, treatment, and outcomes. The spectrum of liver disease in variably included in CFLD has included neonatal cholestasis, elevated aminotransferases, hepatic steatosis, hepatic fibrosis, focal biliary cirrhosis and multilobular cirrhosis with or without portal hypertension. We suggest that uniform definitions would lead to consistently defined clinical and pathologic manifestations and contribute to clarity in research on the prevalence, natural history and treatment of liver disease in CF.