Introduction. As the expected survival improves in individuals with the
cystic fibrosis (CF), so they may be faced with a number of medical
complications. Objective. The aim of this study was to analyze the prevalence
of liver cirrhosis in our CF population as well as the clinical and genetic
characteristics of these patients. Methods. All patients older than 2 years
(n=96) were screened for liver disease. Liver cirrhosis was defined by
ultrasonographic findings of distinct heterogeneity of liver parenchyma and
nodular liver surface and/or by liver biopsy findings. Enlarged spleen,
distended portal vein and abnormal portal venous flow indicated portal
hypertension. Clinical and genotype data were analyzed. Results. Sixteen
patients were found to have liver cirrhosis, three of them with portal
hypertension. All patients had pancreatic insufficiency. Nutritional status
expressed as standard deviation score (Z score) for weight, height, and body
mass index was as follows: zW=-0.40?1.24, zH=-0.83?1.02, and BMI=20.1?2.3. CF
patients with liver cirrhosis generally had mild-to-moderate lung disease,
with average FVC and FEV1 values of 97.1?16.5% of predicted and 87.9?23.5% of
predicted, respectively. Genetic analysis showed high frequency of F508del
mutation in the group with cirrhosis (90.6%). Conclusion. The prevalence of
liver cirrhosis in our CF population older than 2 years was 16.6%. Patients
with pancreatic insufficiency and severe CFTR mutations, especially F508del,
were exposed to higher risk of developing liver cirrhosis. Liver cirrhosis
has no significant impact on the pulmonary function and the nutritional
status, until the end-stage liver disease.
EPS3.7 Portal hypertension in cystic fibrosis-related liver disease is a non-cirrhotic portal hypertension due to obliterative portal venopathy
