The natural history of cystic fibrosis liver disease - refining the phenotype

The incidence of Cystic Fibrosis (CF) is very high in Ireland. Survival has improved greatly over the past 30 years. However as longevity has increased so has the development of complications including liver disease. The diagnosis and treatment of liver disease in CF is particularly challenging. We do not understand the cause of liver disease or why it remains dormant in some patients but becomes remarkably aggressive in others. In a case-control study we demonstrated that CF patients with liver disease have impaired nutrition, increased risk of diabetes, diminished lung function and increased mortality compared to those without liver disease. However our understanding of liver disease in CF has been hampered by (a) the absence of long-term follow-up studies on the evolution of liver disease in CF (b) the lack of a non-invasive test to identify liver disease and monitor its progression. While long-term prospective studies are invaluable few are established because they are time-consuming, expensive and from an academic perspective generate little output for several years. Over the past six years we have established a 20-year prospective study, which has enrolled 605 participants or 96% of the Irish pediatric CF population. We now seek funding to continue this study. As this research progresses we will determine which individuals with cystic fibrosis are at increased risk of developing liver disease, which are likely to get life-threatening disease, why diabetes is associated with CF liver disease. Furthermore would early treatment of diabetes reduces the incidence or the progression of liver disease. We will also determine the reliability of a new investigation transient elastography to diagnose and monitor liver disease in CF. This would greatly enhance the capacity of our study the cause of CF liver disease, the rate of progression and evaluate potential new treatments for liver disease in CF

Award Date: 19 June 2014
Award Value: €325,169
Principal Investigator: Dr Marion Rowland
Host Institution: University College Dublin
Scheme: Health Research Awards