Common Genetic “Stealth Condition” Increases Risk Of Further Health Problems

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Hereditary hemochromatosis is one of the most common genetic disorders in the Western World – and you very well may have never heard of it. The disorder causes an excess amount of iron from one’s diet to build up in the body’s tissues and organs.

Now new research from the University of Exeter reveals that the faulty genes responsible can inflict more damage than previously thought. Two large-scale studies suggest that hereditary hemochromatosis quadruples one’s risk of liver disease and doubles the risk of arthritis.

It also increases the risk of diabetes, chronic pain, and frailty in older age groups. Deaths from liver cancer in men with hemochromatosis were significantly higher too. The results of the study are striking, particularly as the diagnosis of this so-called “stealth condition” is often delayed or missed.

“That’s not surprising as symptoms such as joint pain and tiredness are frequently mistaken as signs of aging,” said first author Dr Luke Pilling in a statement. “Yet, it is likely that these potentially deadly health risks could be treated and avoided, transforming lives, especially at older ages.”

That’s the good news: This is a perfectly treatable disorder. To lower iron levels, patients are often asked to donate or remove units of blood. This is typically done three to four times a year depending on the level of iron buildup.

For the studies, published in the BMJ and the Journal of Gerontology: Medical Sciences, the team analyzed data from 2,890 people aged 40 to 70 years in Britain with HFE C282Y mutations from the UK Biobank. The volunteers were monitored for around seven years.

Of those individuals, one in five men and one in 10 women developed additional diseases – including liver disease, diabetes, osteoarthritis, or rheumatoid arthritis – compared to those without the mutations. The team also found that those aged 65 to 70 with the mutations were more likely to suffer from frailty, chronic pain, and lower muscle strength.

“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.”

It’s important to note that this is an observational study and thus cannot establish cause. Other limitations include the UK Biobank volunteers being healthier overall than the general population at baseline. The team say more work is needed to confirm the mutations are associated with mortality over longer follow-up times. 

The Centers for Disease Control and Prevention (CDC) recommend those with a family history of hemochromatosis talk to their doctor about additional testing. Women tend to have partial protection from the condition early in life because they lose iron through menstruation. Still, young women can and do develop the disease.

Co-author Dr George Kuchel added: “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.”

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