Crucial link found between arthritis, severe liver disease and common genetic disorder

Scientists have found that arthritis is a strong predictor of the development of clinically significant liver problems in people with hemochromatosis.

Edith Cowan University has identified key links between arthritis and the risk of serious liver disease in people with hemochromatosis.

New researchers from Edith Cowan University (ECU) have identified a crucial link between arthritis and the risk of severe liver disease in people with Australia’s most common genetic condition.

An estimated 100,000 Australians carry the high-risk genotype of haemochromatosis, a disease affecting people of northern European descent, in which the body accumulates too much iron. It can lead to many complications, one of the most serious being advanced liver fibrosis, which affects the liver and can lead to cirrhosis and liver cancer.

However, early detection of advanced liver fibrosis can help clinicians identify those most at risk and reduce the impact or occurrence of future complications.

ECU researchers collaborating with colleagues at the QIMR Berghofer Institute for Medical Research have found that arthritis is a strong predictor of the development of clinically important liver problems in people with hemochromatosis.

Hemochromatosis is a disorder in which excess iron builds up in the body to harmful levels. Left untreated, the disease can cause iron overload, a buildup of iron that can damage many parts of the body, including the liver, heart, pancreas, endocrine glands, and joints.

Posted in the Mayo Clinic Proceedings, the research studied 112 people with hemochromatosis.

Of the 19 people with advanced stage 3-4 liver fibrosis, 84% also had arthritis.

However, of the 65 subjects without arthritis, only 5% had advanced liver fibrosis.

Lead author Professor John Olynyk said the findings have many implications for people living with or at risk of developing haemochromatosis.

“Because liver fibrosis improves with treatment, it is important to accurately determine the presence or absence of advanced liver fibrosis when patients are evaluated,” he said.

“We recommend that people with hemochromatosis who present with arthritis be properly evaluated for the presence of advanced liver fibrosis.”

Professor Olynyk said the study could also save many people from undergoing unnecessary procedures.

“People with hemochromatosis but who do not have arthritis at the time of diagnosis are very unlikely to have advanced liver fibrosis, which may negate the need for an initial liver biopsy,” he said.

“Instead, they can be monitored for the development of fibrosis via noninvasive methods.”

Professor Olynyk said the link to arthritis could help diagnose more people with haemochromatosis, which can often be difficult due to the fact that many symptoms are relatively non-specific and common in the general population.

“People with a fair history of arthritis or liver disease should always be evaluated for potential hemochromatosis – especially when it’s unclear why the problem exists,” he said.

Reference: “Arthritis Prediction of Advanced Hepatic Fibrosis in HFE Hemochromatosis” by Lauren Andersson, MBBS; Lawrie W. Powell, Ph.D.; Louise E. Ramm, BSc; Grant A. Ramm, PhD and John K. Olynyk, MD, April 12, 2022, Mayo Clinic Proceedings.
DOI: 10.1016/j.mayocp.2022.02.017

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