Update on cystic fibrosis related liver disease
Authors: Al Sinani S, Al-Mulaabed S, Al Naamani K, Sultan R Abstract Cystic fibrosis (CF) is a multisystem disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CFTR is expressed in the apical surface of cholangiocytes. Homozygous CFTR gene mutation results in viscous and acidic bile secretions secondary to deficient surface fluid and bicarbonate efflux. Viscous, inspissated bile causes ductular obstruction and hepatotoxicity from retained bile components, leading to fibrosis and ultimately cirrhosis, known as CF liver disease (CFLD). CFLD is the third leading cause of death in CF p...
Conclusion: In this study the prevalence of fungal colonization seems to be lower than expected and no correlation with disease severity or CFTR function was found.Clinical Implications: The positive association with bacterial colorization is possibly part of the complex microbial interaction pathway requiring further clinical research. The positive tendency between fungal colonization and cystic fibrosis-liver disease is interesting and may underline a phenotypic correlation.
CONCLUSIONS: The cut-offs used for caeruloplasmin, 24-hour urinary copper and hepatic copper for diagnosing Wilson's disease are method-dependent and require validation in the population in which such index tests are going to be used. Binary cut-offs and use of single-test strategies to rule Wilson's disease in or out is not supported by the evidence in this review. There is insufficient evidence to inform testing in specific subgroups, defined by age, ethnicity or clinical subgroups. PMID: 31743430 [PubMed - in process]
The severe form of CF liver disease, multilobular biliary cirrhosis (MBC) is associated with the almost invariable development of portal hypertension (PH) and the complications of variceal bleeding [1 –4] and unusually hepatic encephalopathy  or liver failure requiring transplantation . These features in combination with splenomegaly and laboratory evidence of hypersplenism facilitate a diagnosis of MBC/PH which can be confirmed with non-invasive ultrasonography [2,7–9] and magnetic res onance imaging.
In individuals with cystic fibrosis (CF), severe pulmonary or liver disease is frequently addressed with lung or liver transplant, respectively. Specific endocrine co-morbidities including diabetes mellitus, osteoporosis, and adrenal insufficiency accompany solid organ transplant and may be particularly problematic in individuals with CF, who are already at increased risk of diabetes and compromised bone health. Diabetes and osteoporosis screening and initiation of appropriate preventive measures are recommended prior to transplant.
Conclusions: Using modified serum lab thresholds, addition of liver fibrosis indices, and/or abdominal US can increase detection of liver nodularity in CF. A combination of GGT, GPR, and APRI can help direct which CF children should undergo US evaluation. These tools may improve earlier identification of fibrosis and/or cirrhosis in CF patients.
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Conclusions: Liver US patterns in children with CF correlate with platelet count, spleen size and indices of liver fibrosis. Multivariable models of these biomarkers have excellent discriminating ability for NL versus NOD, and good ability to distinguish other US patterns, suggesting that US patterns correlate with clinically relevant liver disease.
This study investigated the potential of Supersonic shear-wave elastography (SSWE) to non-invasively detect CFLD and assess hepatic fibrosis severity in children with CF.
Learning point for cliniciansThis case illustrates the limitations of using non-invasive criteria for the diagnosis of hepatocellular carcinoma. The criteria may not be valid in rarer cause of cirrhosis such as cystic fibrosis. If the diagnosis precludes life-saving treatment such as liver transplantation a confirmatory liver biopsy may be wise.