Researchers reveal dangers of Western society’s most common genetic disorder

By Rod Minchin17th January 2019News EnglandArthritis, Disabilities, News England

The Western world’s most common genetic disorder causes far higher levels of serious disease and disability than previously thought, despite being easy to detect and treat, research has shown.

Two major studies have revealed that the iron overload condition haemochromatosis, previously thought to be a low-level health risk, actually quadruples the risk of liver disease and doubles the risk of arthritis and frailty in older age groups.

It also causes higher risk of diabetes and chronic pain.

The studies in UK Biobank data found that the number of deaths from liver cancer in men with the faulty genes was significantly higher than expected, although the number of deaths was small.

The research, led by the universities of Exeter and Connecticut, suggests that routine screening may be needed for people at risk of haemochromatosis.

Haemochromatosis causes people to absorb too much iron from their diet, which accumulates around the body over time, damaging organs and eventually causing disease.

It is the most common genetic disorder in the UK. An estimated 250,000 people of European ancestry in the country have the disease, which is caused when people have two particular faulty genes.

One in eight people in some areas of the UK are carriers, meaning they have one of the two faulty genes. If both parents are carriers then two faulty genes can be passed on to their children.

Symptoms can include feeling tired all the time, muscle weakness and joint pain, meaning it is often misdiagnosed as the signs of ageing.

The researchers found that in men, 1.6% of hip replacements and 5.8% of liver cancers occurred in those with the two gene mutations.

Professor David Melzer, who led the research, said: “The haemochromatosis mutations were thought to only rarely cause health problems. We’ve shown that hereditary haemochromatosis is actually a much more common and stealth disease, including in older people.

“We now need to test ways of screening and diagnosing haemochromatosis earlier. It’s exciting to think that better care might prevent so much unnecessary disease.”

The team analysed data from 2,890 people with the two genetic mutations. Of that group, one in five men and one in 10 women with the mutations developed additional diseases, compared with those without mutations.

Genetic haemochromatosis is thought to have evolved when past populations moved to places where meat was scarce.

In Ireland, it is known as the “Celtic curse”, although it is common throughout northern Europe and also occurs at a lower level in southern Europe and is common in Australia and the US.

The condition is twice as likely to be serious in men, and women have partial protection until later in life because they lose iron through menstruation and having children.

Treatment initially involves the regular removal of blood, known as a venesection, and this is usually carried out every few weeks.

Dr Luke Pilling, a member of the research team, said: “We found that diagnosis of haemochromatosis is often delayed or missed. That’s not surprising as symptoms such as joint pains and tiredness are frequently mistaken as signs of ageing.

“Yet it is likely that these potentially deadly health risks could be treated and avoided, transforming lives, especially at older ages.”

The two papers are:

– Common conditions associated with Hereditary Haemochromatosis genetic variants: cohort study in UK Biobank, published in The BMJ

– Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants, published in the Journal of Gerontology: Medical Sciences.

IT TOOK NINE MONTHS TO DIAGNOSE LONG-DISTANCE RUNNER WITH HAEMOCHROMATOSIS

Long-distance runner Ruth Jones (pictured) knew the aches and pains she was experiencing went beyond the signs of natural ageing, yet it took nine months of tests before she was finally diagnosed with haemochromatosis.

The mother-of-two from Stamford, Lincolnshire runs up to 70 miles a week and was seeking an explanation for her plummeting energy levels and slower speeds.

“I was feeling exhausted all the time. I was finding running much harder, for no obvious reason. It went well beyond what other runners experience as part of getting older,” she said.

The 38-year-old athletics writer first visited a doctor with symptoms of extreme tiredness and aching in September 2017 but was only diagnosed in May last year after a “catalogue of errors”.

“It seems to be a theme across the country. There just isn’t enough knowledge about the condition in the medical profession. I had to suggest that my doctor should consider it as an option,” she said.

Even once finally diagnosed via a genetic test, Mrs Jones found a lack of knowledge among hospital staff on how she should be treated.

“The first time I had the venesection treatment it was a total disaster.

The hospital wasn’t set up to deal with the treatment properly and staff didn’t know how best to prepare me for the bloodletting,” she said.

“I didn’t know I had to drink litres of water beforehand, rest and eat more than usual. I’d been for a run that morning and I ended up collapsing in a corridor afterwards.”

After her collapse, she insisted on transferring to a specialist consultant and is now treated at The Queen’s Medical Centre in Nottingham, which has a dedicated unit.

Her iron levels are finally dropping.

“After a few treatments, I noticed the aches in my joints alleviating. I just felt more ‘with it’ and alive,” she said.

“It’s so important that understanding increases in the medical profession – people with haemochromatosis need diagnosis and treatment as early as possible, so they can go on living their life without potentially serious health complications.”

Mrs Jones’s husband Brian is now undergoing testing to see if he too has haemochromatosis, which would help indicate whether their daughters, aged 10 and 13, carry the gene or have the condition.