First-degree relatives of NAFLD patients at risk for liver disease

Around a quarter of the general population worldwide suffers from non-alcoholic fatty liver disease, known as NAFLD, an umbrella term for a range of liver conditions affecting people who drink little or no alcohol. NAFLD can lead to cirrhosis, liver cancer, and liver failure.

In a new study, researchers at the University of California, San Diego School of Medicine found that first-degree relatives of NAFLD patients characterized by advanced fibrosis had a 15% risk of developing the disease.

The findings, published in the November 1, 2022 online edition of the Journal of Clinical Investigation, highlight the importance of early screening of siblings and offspring of patients with NAFLD.

“Until now, first-degree relatives accompanying loved ones with liver disease for medical treatment were unaware that they themselves were at greater risk of developing advanced fibrosis,” Rohit Loomba said. , MD, first author of the study, professor in the Division of Gastroenterology at UC San Diego School of Medicine and director of hepatology at UC San Diego Health.

Liver disease is a silent killer. Most people don’t know they have a liver problem until it is advanced and they develop cirrhosis because there are no obvious symptoms.

According to Loomba, the results of the study could play a key role in early detection.

“Our goal and mission is to identify patients who have more advanced liver problems earlier and non-invasively to prevent progression to cirrhosis,” said Loomba, director of the NAFLD research center at the UC San Diego School of Medicine.

NAFLD is a complex metabolic disease with underlying genetic and environmental risk factors. Recent studies have demonstrated that NAFLD and NAFLD-related liver fibrosis are inherited and that advanced fibrosis can cluster in the same families.

The study involved nearly 400 first-degree relatives enrolled in two independent cohorts from the United States and Finland. Liver fibrosis was assessed using magnetic resonance elastography and other noninvasive imaging modalities.

The results provided researchers with the scientific evidence needed to recommend routine screenings for advanced fibrosis in first-degree relatives of patients with cirrhosis or advanced fibrosis.

“Siblings and descendants of patients should be assessed around age 40 or 50,” Loomba said. “Our findings could change the standard of care for this high-risk population.”

Loomba added that educating first-degree relatives about risk factors, including excessive alcohol consumption, weight gain and a sedentary lifestyle, is also essential.

“Many genes linked to liver disease change depending on a person’s lifestyle and what they eat. This means that first-degree relatives can help prevent the development of advanced fibrosis if they are aware of the risk and willing to make lifestyle changes,” said Loomba. “Patients need to be informed of their risk, because then they are more likely to change their behavior and lifestyle.”

Looking ahead, Loomba said the next step will be to determine the genetic factors within families that increase the risk of NAFLD to identify and treat patients earlier.

Study co-authors include: Nobuharu Tamaki, Noora Ahlholm, Suzanne R. Sharpton, Veeral Ajmera, Yuko Kono, Shravan Dave, Aijaz Ahmed, Vinay Sundaram, Michael Wilkinson, Heather Patton, Hersh Gupta, Vanessa Cervantes, Christie Hernandez , Scarlett J. Lopez, Ria Loomba, Amanda Baumgartner, Lisa Richards, and Perttu ET Arkkila, all at UC San Diego; and Panu K. Luukkonen, Kimmo Porthan, Katriina Nemes, Helena Isoniemi and Hannele Yki-Järvinen from the University of Helsinki.

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