New Genetics Study Shows Fatty Liver Disease Cirrhosis Could Run in Families

Friday, November 11, 2016 Research News
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BOSTON, Nov. 11, 2016 /PRNewswire/ -- First-degree relatives of people with non-alcoholic fatty liver disease cirrhosis have

a 12 times higher risk of developing the disease when compared to those with no family history, according to research presented this week at The Liver Meeting® – held by the American Association for the Study of Liver Diseases.


fatty liver disease (NAFLD) mimics the symptoms of alcoholic liver disease, but it is not caused by alcohol consumption, but rather the build up of fat in the liver usually in the setting of obesity and metabolic syndrome. NAFLD is becoming increasingly prevalent in the U.S., and many researchers are looking at complications of – and genetic predisposition – to the disease.

"I started studying genetics of NAFLD in twins, and we found, to my surprise, that not only NAFLD, but also hepatic fibrosis, was a heritable trait (Loomba et al. Gastroenterology, 2015)," explains Rohit Loomba, MD, MHSc; director of the NAFLD Research Center at University of California, San Diego, and lead investigator in the study. "We then decided to embark on studying patients with NAFLD cirrhosis and their first-degree relatives for the presence of advanced fibrosis."

Dr. Loomba's team recently recruited 26 patients with NAFLD cirrhosis and 39 of their first-degree relatives (i.e., parent, sibling or child) and compared them with 69 pairs of first-degree relatives without the disease (representing the general population) to determine if there is a higher likelihood of developing cirrhosis if a first-degree relative already has it. They used advanced MRI methods to accurately quantify liver fat by MRI-PDFF (proton-density-fat-fraction) and hepatic fibrosis by MRE (elastography) in all cases and controls. This is the first prospective study of its kind with detailed MRI-based assessment of liver disease.

The participants with NAFLD cirrhosis had an average age of 63 years and an average BMI of 31.7. Their first-degree relatives had an average age of 48 and an average BMI of 31. The participants with NAFLD cirrhosis had been confirmed to have NAFLD per the American Association for the Study of Liver Diseases guidelines and cirrhosis through biopsy and imaging. Their first-degree relatives all underwent a standard research visit and were evaluated for cirrhosis through an MRI and MRE.

The control group consisted of 69 people without evidence of cirrhosis and 69 of their first-degree relatives were also assessed for cirrhosis risk and compared to already published estimates of cirrhosis in the general population. This group had an average age of 43 and an average BMI of 25.2.

Dr. Loomba's team found prevalence among first-degree relatives of cirrhotic patients was 12 times higher than in the control group (17.9 percent vs. 1.4 percent). These participants also had higher odds of developing cirrhosis than those in the control group.

Finally, the researchers conducted multivariable-adjusted analyses to account for age, sex, Hispanic heritage, BMI and diabetes and found that the results remained consistent; the likelihood of developing NAFLD cirrhosis was significantly higher among first-degree relatives of people who already have the disease, which leads the researchers to believe that first-degree relatives of NAFLD cirrhotics would benefit from screening for advanced fibrosis.

"Risk of cirrhosis is significantly higher if you have a family history of NASH cirrhosis in first-degree relatives, so we should consider screening for cirrhosis in this population," says Dr. Loomba of the findings of the study.

Dr. Loomba will present these findings at AASLD's press conference in Room 313 at John B. Hynes Veterans Memorial Convention Center in Boston on Saturday, November 12 at 4pm. Dr. Loomba will present the study entitled "Increased risk of cirrhosis in first degree relatives of patients with NAFLD cirrhosis: A prospective study" on Monday, November 14 at 5pm in Room 312. The corresponding abstract (number 19) can be found in the journal, HepatologySpecial Issue: The 67th Annual Meeting of the American Association for the Study of Liver Diseases: The Liver Meeting 2016.

About the AASLD

AASLD is a medical subspecialty society representing clinicians and researchers in liver disease. The work of our members has laid the foundation for the development of drugs used to treat patients with viral hepatitis. Access to care and support of liver disease research are at the center of AASLD's advocacy efforts.

AASLD is the leading organization of scientists and healthcare professionals committed to preventing and curing liver disease. AASLD was founded in 1950 by a small group of leading liver specialists and has grown to an international society responsible for all aspects of hepatology.

Press releases and additional information about AASLD are available online at

Media Contact: Erin MeadowsPhone: 404-803-2857On-site Phone: 617-954-2956Email:

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SOURCE American Association for the Study of Liver Diseases (AASLD)


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