University of Exeter: Common Gene Disorder Causes Serious “Stealth” Disease, but Could Be Easily Treated

Jan. 30, 2019 08:05 UTC

EXETER, England--(BUSINESS WIRE)-- The western world’s most common genetic disorder, hemochromatosis, causes far higher levels of serious disease and disability than previously thought, despite being easy to detect and treat.

Two major studies have revealed that hemochromatosis, previously thought to be a low-level health risk, quadruples risk of liver disease and doubles the risk of arthritis and frailty in older age groups. It also causes higher risk of diabetes, chronic pain, and liver cancer.

The research, led by a group from the University of Exeter in the U.K., with the University of Connecticut and the U.S. National Institute on Aging, is published in The BMJ and The Journals of Gerontology: Medical Sciences.

Hemochromatosis causes people to absorb too much iron from their diet. It accumulates around the body over time, damaging organs and eventually causing disease. An estimated one million Americans have hereditary hemochromatosis. Symptoms include excessive tiredness plus muscle and joint pains, which are often misdiagnosed as signs of aging.

Blood tests for iron and genetic testing are simple and cost-effective. The condition is easily treated by withdrawing blood.

Professor David Melzer, from the University of Exeter and University of Connecticut, who led the research, said: “The hemochromatosis mutations were thought to only rarely cause health problems. We’ve shown that hereditary hemochromatosis is actually a much more common and stealth disease, which is also seen in older people. We now need to test ways to screen and diagnose hemochromatosis earlier. It’s exciting to think that better care might prevent so much unnecessary disease.”

In the largest study of its kind, the team analyzed data from 2,890 people in Britain with the two genetic mutations that cause the condition (HFE C282Y). Of this group, one in five men and one in 10 women developed additional diseases, compared to those without mutations. The data suggested that even more diseases developed with advancing age. The team found that men and women with the mutations, aged 65 to 70, were much more likely to suffer from frailty and chronic pain and had lower muscle strength.

Treatment initially involves regular blood draws, known as a venesection. When iron levels are lower, this reduces to around four times annually.

“This could be one example where a less common genetic variation causes limited disease in the young and middle-aged, but reduces resilience and causes susceptibility to multiple diseases later in life,” said Dr. Luigi Ferrucci, Scientific Director of the National Institute on Aging. “Identifying more of these genetic variants may lead to new treatment targets to ultimately improve health and function in old age. It is possible that many other situations like these exist. Hemochromatosis is unusual, though, in having such a simple and safe treatment already available.”

Dr. George Kuchel, study co-author and director of the Center on Aging at the University of Connecticut, said: “Aging represents the greatest risk factor for common chronic diseases as well as associated frailty and disability. Our work has not only identified a potentially preventable and reversible contributor to these disabling conditions of late life, but also highlights the importance of developing approaches grounded in Precision Medicine to improve health and function in old age by decreasing the role of upregulated biological drivers of aging in selected individuals through a simple blood draw.”

The CDC has advised everyone with a family health history of hemochromatosis to talk to their doctor about testing for hereditary hemochromatosis. An NIH institute (NIDDK) advises that health care providers should consider testing people who have severe and continuing fatigue, unexplained cirrhosis, joint pain or arthritis, heart problems, erectile dysfunction, or diabetes, because these health issues may result from hemochromatosis (see


Louise Vennells
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Source: University of Exeter

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