Emerging clinical perspectives in cystic fibrosis liver disease

Abstract

Purpose of reviewLiver disease (CFLD) as a complication of cystic fibrosis is recognized as a more severe disease phenotype in both children and adults. We review recent advances in understanding the disease mechanism and consider the implications of new strategies for the diagnosis and management of cystic fibrosis in those with evidence of clinically significant liver disease.Recent findingsEvidence suggests that the prevalence of CFLD has not declined with the introduction of newborn screening. Furthermore, children with CFLD, who have been diagnosed with cystic fibrosis following newborn screening continue to have a much higher mortality rate compared with those with no liver disease. There is further data suggesting noncirrhotic obliterative portal venopathy as the predominant pathological mechanism in the majority of children and young adults receiving a liver transplantation. Little progress has been made in developing an accurate noninvasive test for early diagnosis or monitoring disease progression in CFLD. The benefit of new modulator therapies is not well understood in those with established CFLD, whereas the risk of hepatotoxicity as a complication of treatment must be carefully monitored.SummaryBetter understanding of the pathophysiology of CFLD would allow a standardized approach to diagnosis, with the potential to improve outcomes for those with CFLD.

Clinical and genetic risk factors for cystic fibrosis‐related liver disease in Egyptian CF children: A single‐center experience

“…13 Interestingly, the prevalence of CFLD has not decreased with the introduction of newborn screening in high income countries. 15 Our study was focused on evaluating the prevalence of CFLD, and risk factors that contribute to the development of CFLD in a low-middle income countries (LMIC) like Egypt. The occurrence of CFLD in a prospective study was found to be 2.5 per 100 patient-years during early life years, with an increase in the second decade.…”

“…Improving life expectancy in pwCF in high income countries is associated with emergence of CFLD with incidence of 10%−15% 13 . Interestingly, the prevalence of CFLD has not decreased with the introduction of newborn screening in high income countries 15 . Our study was focused on evaluating the prevalence of CFLD, and risk factors that contribute to the development of CFLD in a low‐middle income countries (LMIC) like Egypt.…”

Improving detection of cystic fibrosis related liver disease using liver fibrosis assessment tools

“…Historical post-mortem studies highlighted the propensity of CF to affect the liver with more than 70 % of PwCF showing evidence of focal biliary cirrhosis [ 4 ]. CFLD is most likely a complex, multi-faceted disease with multiple causative pathologies, including biliary fibrosis, obliterative portal venopathy and nodular regenerative hyperplasia [ 5 , 6 ]. These can be simultaneously active but their contribution to disease may vary between individuals and over time in the same person.…”

“…Promisingly, LSM by TE in CFLD, has been shown to correlate with biochemical and USS evidence of CFLD [ 15 , 20 , 22 , 23 ]. However, there has been no consensus agreement on a diagnostic value in PwCF [ 24 ].…”