A "stealth condition" which is one of the western world's most common genetic disorders is causing far higher levels of cancer and chronic health conditions than previously thought, a UK study has revealed.
Hereditary hemochromatosis -- a genetic condition which leads to a toxic build-up of iron in the body -- was previously thought to be a low-level health risk. However, a new study, published Wednesday in the British Medical Journal, has revealed that the condition in fact quadruples the risk of liver disease and doubles the risk of arthritis and frailty in older demographics.
It also leads to a higher risk of chronic pain and diabetes.
The condition, which is caused by individuals having mutations on both copies of the HFR gene, causes individuals to absorb too much iron, which subsequently accumulates around the body and can eventually lead to organ damage.
The study, which is largest of its kind and analyzed data from 2,890 people carrying the mutations, revealed that in men of European ancestry in Britain, 5.8% of liver cancers and 1.6% of hip replacements were caused by the condition.
"The condition was thought to be mild, but we are finding it causes much more damage," lead author Dr. David Melzer told CNN. "Symptoms are easy to confuse with other conditions such as arthritis, so it often goes undiagnosed," he warned.
The disorder is most common among populations of European descent, north Europe in particular,and is highestamong the Irish population. There are an estimated 250,000 people of European descent who have the condition in the UK.
The study further revealed that the double mutation occurs in one in every 300 non-Hispanic white individuals in the United States, while nearly 10% of that population are carriers of the mutation -- meaning that they have it in just one copy of the gene.
Among the study participants, one in five men and one in 10 women developed additional diseases, such as diabetes, arthritis or liver disease, compared to those without the mutations. Fourteen people in the study also died of liver cancer.
Typical symptoms of the disorder include excessive tiredness and muscle or joint pain, which are often misdiagnosed as signs of aging.
"When someone comes in with tiredness or joint pain, it looks like many other conditions," said Melzer.
He warned that many people are receiving tests so late that "irreparable damage" has already been caused. Among these serious complications are liver cancer and liver cirrhosis. The study found that deaths from liver cancer in men with the double mutation was significantly higher than expected, however the number was still low. Melzer, however, noted that effective genetic testing is available, which leads to the possibility of effective treatment "if found early."
The study found that routine screening for individuals at risk of the condition, including genetic testing and blood tests for iron, was both cost-effective and highly accurate.
The condition doesn't need to exist, as genetic tests are so cheap and accurate, Melzer said. "We are now able to prevent so much unnecessary disease with a simple test and treatment, which is a win-win. It is safe, effective and cheap. Economic data shows testing would pay for itself, because the cost of paying for treatment in late stages of disease is enormous."
Melzer noted that treatment for hemochromatosis at an early stage is easy and the build-up of iron is "perfectly preventable." Typical treatment involves regularly drawing blood in order to reduce iron levels. This is initially done once every few weeks, but can be reduced to around four times a year once iron levels are lower. He further noted that patients' blood can then be used for blood transfusions once their iron levels are sufficiently low.
Dr. Luigi Ferrucci, scientific director of the National Institute of Aging, noted that the research could help improve health and function in old age. "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," he said in a statement.
"Identifying more of these genetic variants may lead to new treatment targets to ultimately improve health and function in old age."
Dr. Roseanna Brady, consultant health psychologist and trustee at Hemochromatosis UK, who was not involved in the study, said: "These papers add to the evidence linking hemochromatosis to potentially debilitating and costly conditions including arthritis and osteoporosis, particularly in men. The findings with regard to higher levels of disease in older people support the need to diagnose and treat hemochromatosis early."
Matthew Robinson, CNN
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