Common Genetic Disorder Found to Cause Serious Disease and Disability with Age
New research has revealed that hemochromatosis – a genetic condition that causes more than a million Americans to absorb too much iron from their diets – is a much more serious cause of disease and disability than previously thought. The upside is that the condition is easy to detect and treat.
Two new studies, published in The BMJ and The Journals of Gerontology: Medical Sciences, showed that hemochromatosis, previously thought to be a low-level health risk, actually quadruples risk of liver disease and doubles the risk of arthritis and frailty in older people. It also causes higher risk of diabetes and chronic pain, and a small number of patients develop liver cancer.
The research was led by a team from the University of Exeter in the United Kingdom, the University of Connecticut, and the National Institute on Aging Intramural Research Program.
The disease is caused by two mutations in the gene known as HFE C282Y that codes for a protein regulating iron absorption. In a study about 10 times larger than any previous look at hemochromatosis rates, the team reviewed data on 2,890 British people who carried the two mutations.
They found that 1 in 5 men and 1 in 10 women with these mutations developed additional diseases as they got older, compared to those without the genes. Hemochromatosis sufferers were also more likely to have chronic pain, lower muscle strength, and to be frail as they aged.
Hemochromatosis symptoms, such as fatigue and muscle and joint pains, are easily confused as part of typical aging, and the disease often goes undetected until damage is done. Known in Ireland as the Celtic Curse, the disease is common in Northern Europe. One in 300 U.S. non-Hispanic Whites have two copies of the mutated gene, and about 10% are carriers.
Women are less at risk for the condition until later in life, since they lose iron naturally through menstruation and childbearing.
The good news is that hemochromatosis can be detected through medical tests and treated by blood withdrawals. Researchers hope this increased awareness of the scope of the problem can help lead to increased testing and treatment, which should improve quality of life and reduce frailty and disability rates for those with genetic risk for hemochromatosis.
- k5222. doi:10.1136/bmj.k5222364,The BMJ, . Common conditions associated with hereditary haemochromatosis genetic variants: Cohort study in UK Biobank. Pilling, L.C. et al. (2019).
- Tamosauskaite, J. et al. (2019). Hereditary hemochromatosis associations with frailty, sarcopenia and chronic pain: Evidence from 200,975 older UK Biobank participants. Journal of Gerontology: Medical Sciences. doi:10.1093/gerona/gly270
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