Asymptomatic first-degree relatives of patients who have nonalcoholic fatty liver disease with cirrhosis are at a 12-fold higher risk for advanced liver fibrosis compared with the general population, according to a report published online June 19 in the Journal of Clinical Investigation.
If this preliminary but robust association is confirmed in further research, it may well change clinical practice. First-degree relatives would likely require screening for advanced fibrosis, and those found to have it would likely need continued surveillance for hepatocellular carcinoma.
SilverV/Thinkstock
They noted that previous studies have suggested a familial component to NAFLD, and decided to assess the risk of advanced fibrosis in first-degree relatives of patients who had NAFLD plus cirrhosis. The investigators used noninvasive imaging techniques – MRI-PDFF (MRI proton density fat fraction) and MRE (magnetic resonance elastography) – to quantify liver fat and liver fibrosis in 26 patients who had NAFLD plus cirrhosis, 39 of their first-degree relatives who were asymptomatic, 69 community-dwelling adults who did not have NAFLD or cirrhosis, and 69 of their first-degree relatives.
The primary outcome measure, the prevalence of advanced liver fibrosis, was 18% among first-degree relatives of patients who had NAFLD plus cirrhosis. This was markedly greater than the prevalence of advanced fibrosis among first-degree relatives of unaffected adults (1.4%).
The odds ratio of having advanced fibrosis among first-degree relatives of affected patients was 14.9, compared with the control population. When the data were adjusted to account for age, sex, body mass index, and diabetes status, the OR remained statistically and clinically significant at 12.5, Dr. Caussy and her associates said (doi.org/10.1172/JCI93465).
This study was limited in that it was a single-center investigation and used advanced MRI techniques that may not be routinely available at other centers. In addition, since it was cross-sectional in design, long-term outcomes, such as the development of hepatocellular carcinoma and survival rates, could not be assessed.
“Despite these limitations, we believe that this study provides important data that require validation in larger studies to then change clinical practice guidelines to screen first-degree relatives of patients with NAFLD with cirrhosis,” the investigators added.
The National Institute of Diabetes and Digestive and Kidney Diseases and the National Institute of Environmental Health Sciences supported the study. Dr. Caussy and her associates reported having no relevant financial disclosures.