Detecting CFRLD

J Cyst Fibros. 2009 Sep 2. [Epub ahead of print]

Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease.

Witters P, De Boeck K, Dupont L, Proesmans M, Vermeulen F, Servaes R, Verslype C, Laleman W, Nevens F, Hoffman I, Cassiman D.

Department of Paediatrics, Katholieke Universiteit Leuven, Belgium; Liver Facility, Katholieke Universiteit Leuven, Belgium.

BACKGROUND: Cystic fibrosis-associated liver disease (CFLD) is the second cause of mortality in CF. The prevalence is estimated to be 26-45%, but sensitive diagnostic tools are lacking. We investigated whether non-invasive liver elastography (Fibroscan) could serve as a screening tool. METHODS: Fibroscan measurements were performed in 66 CF patients. Age-specific cutoff values were determined in a control population (n=59). The measurements were compared to clinical data, biyearly biochemistry and ultrasound. RESULTS: Fibroscan was easy to perform in this patient population. There were 14 patients (21%) with abnormal liver stiffness measurements. Liver stiffness was significantly increased in patients with clinical CFLD (11.2kPa versus 5.1kPa), biochemical CFLD (7.4kPa versus 5.4kPa) or ultrasonographical CFLD (8.2 versus 4.3kPa) (p<0.02 for all). CONCLUSIONS: Fibroscan is an objective measure and is easy to perform in CF patients, even in children and could provide a valuable tool to detect, and quantify CFLD.

PMID: 19733131 [PubMed - as supplied by publisher]

Gene Linked to Liver Disease in Cystic Fibrosis

Screening for the variation could help identify risk factors early on, researchers say

Posted September 8, 2009

TUESDAY, Sept. 8 (HealthDay News) -- A variant of a particular gene in people with cystic fibrosis greatly increases their chances of developing severe liver disease, new research shows.

Cystic fibrosis is an inherited disorder that can lead to deadly lung infections and digestive problems.

About 3 percent to 5 percent of the 30,000 people in the United States with the condition will also develop a serious form of liver disease, including cirrhosis and portal hypertension, or high blood pressure caused by obstruction in the liver, according to the Cystic Fibrosis Foundation.

Researchers from University of North Carolina at Chapel Hill analyzed nine variants in five genes previously implicated in cystic fibrosis liver disease. The study included 124 patients with cystic fibrosis liver disease and 843 patients without liver disease. A second study looked at a different group of 136 patients with cystic fibrosis liver disease and 1,088 without liver disease.

The researchers found that people who had the "SERPINA1 Z allele," or gene variation, had a five times greater chance of developing liver disease. The other variants did not increase the risk of liver disease.

About 2.2 percent of people with cystic fibrosis carry the SERPINA1 Z allele, according to the study published in the Sept. 9 issue of the Journal of the American Medical Association

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Screening for the gene variation could help identify those at risk of developing the liver disease, the researchers wrote.

"The identification of the SERPINA1 Z allele as the first marker for the development of severe liver disease in CF [cystic fibrosis] illustrates the possibility of identifying CF risk factors early in life, conceptually as a secondary component of neonatal screening after the diagnosis of CF is confirmed," researchers wrote.