Men who have the Western world’s most common genetic disorder are 10 times more likely to develop liver cancer, according to a new study.
Research by the University of Exeter has led to renewed calls for routine early testing for the iron overload condition haemochromatosis.
The finding could add more weight to calls for the UK National Screening Committee to recommend screening for the condition, which is currently under consultation.
Researchers projected that more than 7% of men with two copies of the faulty haemochromatosis genes would develop liver cancer by age 75, compared to just 0.6% in the general population.
An estimated 175,000 men and boys of European ancestry in the UK have these faulty genes and they are particularly prevalent in Celtic bloodlines, meaning the UK and parts of North America have some of the highest rates in the world.
Reliable tests are available to identify those at risk and symptoms can include feeling tired all the time, muscle weakness and joint pains, meaning it is often misdiagnosed as the signs of ageing.
Most of those with liver cancer develop liver damage first, often progressing to cirrhosis of the liver.
Once diagnosed, the condition is easily treated by a process similar to donating blood several times a year, to lower iron levels.
The team analysed data from 2,890 men and women with two copies of the faulty gene from the UK Biobank.
People were aged 40 to 70 at the start of the study and were followed for a nine-year period.
Researchers said 21 of the 1,294 men with the faulty genes developed liver cancer and 14 of those died from the disease.
They said 10 of the 21 men were not diagnosed with haemochromatosis by the time they had liver cancer confirmed.
Haemochromatosis is more serious in men, with women partially protected because they lose iron through menstruation and childbirth, although some younger women do develop the disease.
The study found no increase in liver cancer risk in women with faulty haemochromatosis genes.
Dr Janice Atkins, from the University of Exeter, said: “The haemochromatosis faulty genes are relatively common in people with European ancestries, and are causing potentially fatal diseases such as liver cancer. Unfortunately, haemochromatosis is often diagnosed too late. Earlier diagnosis could prevent so much unnecessary disease.”
Professor David Melzer, who led the team, added: “Tragically, men with the haemochromatosis faulty genes have been dying of liver cancer for many years, but this was thought to be rare.
“The large scale of UK Biobank study allowed us to measure cancer risk accurately. We were shocked to find that more than 7% of men with two faulty genes are likely to develop liver cancer by age 75, particularly considering that the UK has the second highest rate of these faulty genes in the world.
“Fortunately, most of these cancers could be prevented with early treatment. Blood donations made during routine treatment of haemochromatosis can be used for other patients, so early diagnosis would actually be a win-win for the NHS.”
– The study, Association of hemochromatosis HFE p.C282Y homozygosity with hepatic malignancy, is published in the journal JAMA.