Hemochromatosis is a genetic condition that affects an estimated one in 300 Canadians, especially those of Northern European or British Isles ancestry — hence one popular name for it: the “Celtic Curse.”
“It’s probably one of the most common genetic disorders that is least talked about,” said Ian Hilley, past president of the Canadian Hemochromatosis Society and a sufferer himself.
Although it’s easily treatable if caught early, the disease can lead to serious complications like liver cirrhosis and heart problems. That’s why his group is trying to raise awareness so people can get tested.
Here’s what you need to know.
What is hemochromatosis?
Hemochromatosis is a condition wherein the body holds on to excessive amounts of iron. Normally, once the body’s needs have been met, the extra iron is excreted. In someone with hemochromatosis, this iron builds up slowly over time.
“You’re born with a genetic defect that causes your GI tract to hyper-absorb iron,” said Dr. Eric Yoshida, a professor of medicine at the University of British Columbia and the chair of the Canadian Liver Foundation’s medical advisory committee.
Although there is always some iron in the body, in people with hemochromatosis, iron can build up in tissues that aren’t meant to hold it, like the liver, heart and pancreas. Over time, it can damage these organs.
“The actual biopsies when you look at them are actually quite impressive because the liver is chock-full of iron,” said Yoshida.
What are the symptoms?
Most people won’t develop symptoms until at least middle age, said Yoshida, since young people haven’t absorbed enough iron yet to cause problems. Women likely won’t show it until years after menopause, since menstruation also cuts down on the amount of iron in their bodies.
Early symptoms include fatigue, arthritis and a loss of libido in men, or menstrual irregularities in women.
Later on, it can lead to diabetes, jaundice, irregular heart beat and even a metallic cast to the skin, depending on where the iron accumulates.
“It’s not just the liver. It can deposit in your heart so you get heart failure. It can deposit in your pancreas; it affects the islet cells, so people can get diabetes. It can deposit in the skin, so in bad cases the skin looks a funny metallic colour. And it can deposit in the joints, so you can get osteoarthritis,” said Yoshida.
“What’s essential is knowing that you have hemochromatosis. That’s the first step in taking care of yourself,” said Hilley.
How is it diagnosed?
The first step of diagnosis is simple: a test to check the amount of ferritin in your blood. This is a blood cell protein that contains iron. If your levels are abnormally high, it could indicate hemochromatosis. More tests, including a genetic test or a liver biopsy, might be done to confirm the diagnosis and make sure it’s not something else.
Hilley says he was diagnosed almost by chance at the age of 50 — his doctor asked him his family history and threw in the blood test during his annual physical, just in case. His disease was caught even before he developed any symptoms and he was immediately able to get it treated.
Many other people might be diagnosed as they go through routine screening for insurance purposes, said Yoshida. But it’s important to catch the disease early so it can be treated before it causes complications.
How is it treated?
The treatment for hemochromatosis might seem a little medieval: essentially, it’s treated by phlebotomy, otherwise known as bloodletting.
“Some people might think it may be barbaric, but it’s better than being on a lifetime of medication,” said Hilley.
Patients give blood, once a week or every two weeks until their ferritin levels return to normal. This can take months or even years, depending on how much iron had accumulated.
It works like this:
“Iron is needed to make hemoglobin, which is a key part of blood cells. So what happens when you give blood is you need to make another pint of red blood cells, basically,” said Hilley. To do this, the body draws iron from wherever it is — including in the organs — to make more hemoglobin, which reduces the amount of accumulated iron in the body. When you remove more blood, the body draws more iron out of the organs.
Unless someone’s organs have already been damaged from end-stage disease, this is “basically curative,” said Yoshida.
Once the excess iron has been eliminated, maintenance is relatively simple. Patients can monitor their ferritin levels and if they go up, they simply go out and donate blood.
“There’s no reason why you can’t simply go to Canadian Blood Services and just donate blood. They would probably love it,” he said.
Hilley said that although some people also pay attention to their diets and try not to eat foods too high in iron, he’s successfully managed his condition for about a decade, largely just through blood donation.
Who should get tested?
Because it’s a genetic disorder, people whose family members have the disease should get screened, said Yoshida.
“It’s relatively easy to get diagnosed and the treatment is really easy,” said Yoshida.
He even thinks that anyone who is in the right demographic — those of Northern European ancestry — could ask for the simple ferritin test during a routine physical exam. For anyone with liver disease, this test should be part of the routine panel screening in order to find the cause of the liver disease.
The same test is routinely done with menstruating women to check for iron deficiency, he said, so it could be ordered for others to check for excess too.
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