Research into Canada’s most common inherited condition has made diagnosis easier

By Lawson Research Communications

It has been identified in human remains from the Early Bronze Age some 4,000 years ago.

However, a challenging diagnosis means many people are unaware of haemochromatosis, Canada’s most common inherited condition. But the challenges of diagnosing this dangerous and often deadly disease have been lessened, thanks to decades of work by researchers like London, Ont.-based Dr. Paul Adams. His most recent work has been recently published in a new review in The Lancet.

In Canada and the United States, one in 227 people have haemochromatosis, making it more common than cystic fibrosis. However, the U.K. Biobank Project, a large-scale biomedical database and research resource, found that only 12 per cent of people who have the condition actually know they have it.

Adams, a professor in Gastroenterology at Schulich School of Medicine & Dentistry and scientist at Lawson Health Research Institute, explained, “The most common genetic test done in Canada and the U.S. is the best way to make the diagnosis, but you have to think of the condition and the doctor has to know that there is a genetic test available. So those two steps are some of our stumbling blocks.”

In Ontario, testing and diagnosis often come only after some other issue arise.

“One day someone stumbles on the fact that there's a liver abnormality, or the patient is complaining of fatigue and the doctor orders blood tests, thinking blood iron is going to be low,” said Adams. “And then it turns out to be very high.”

Most common in people of Northern European ancestry, haemochromatosis results in excess iron in the body and includes symptoms such as fatigue and arthritis pain which can lead to serious complications like cirrhosis of the liver, liver cancer and even death.

Starting in January 2000, Adams conducted a multi-year study involving 20,000 London, Ont. residents that helped change how haemochromatosis is diagnosed. His work has moved diagnosis from testing iron levels – often affected by alcohol consumption, obesity, inflammation, and some types of cancer which can lead to many false positive tests – to genetic testing.

But knowing when genetic testing should be done remains a challenge. The underdiagnosis and lack of awareness also remain issues when it comes to more serious complications.

“If this is diagnosed early, like as a young adult, then this can be treated and those complications won’t develop,” Adams said. “If you donate blood, treatment is very similar to that procedure, and it's tolerated extremely well in most. People who have a lot of excess iron will have this blood taken once a week until their iron levels come down.”

Adams continues to be involved in global research, including work with the U.K. Biobank Project on genomic testing, and is investigating partnerships to develop future gene editing treatment.

He hopes this new publication will lead to better diagnosis and treatment and sees a future in emerging biological therapies.

People looking for more information about haemochromatosis can reach learn more on the Canadian Haemochromatosis Society’s website.

Haemochromatosis---burial-site---Lancet.jpgBurial site in Northern Ireland where haemochromatosis was identified in remains from Early Bronze Age migrants 4,000 years ago. (Photo: Brian Sloan, Centre for Community Archaeology, Queen's University Belfast, Copyright: The Lancet)