HHT Awareness Month

Every day, week and month has a charitable or other cause associated with it. June is apparently Stroke Awareness Month in Canada, which is a good thing to be aware of because so many people are affected by stroke at some point, directly or otherwise. June is also HHT Awareness Month, although not many people have heard of it. That’s mainly because HHT is one of those less common conditions listed as a “rare disease” in the NIH GARD database and elsewhere. It is actually not technically that “rare” as it is believed to affect about 1 in 5,000 people, although possibly less than half of them know it.

HHT is Hereditary (i.e. genetic) Hemorrhagic (i.e. bleeding) Telangiectasia (i.e. small blood vessel malformations in the skin and mucosal linings), also known as Osler-Weber-Rendu Syndrome after the Canadian-German-French physicians who described it in more detail in the late nineteenth and early twentieth centuries.

The most common and noticeable symptom is frequent and spontaneous nosebleeds. Other complications include gastro-intestinal bleeding, chronic iron-deficiency anemia, stroke, heart and/or liver failure, and oxygen deficiency. The underlying reason is that a genetic mutation creates a problem with one of the proteins involved in blood vessel formation, leading to malformations in the skin, nose, liver, lungs, brain, intestines and elsewhere. This mutation is autosomal dominant, meaning that there is a 50% chance of passing it on to a child.

Although it is incurable, the symptoms and complications can be managed in a variety of ways, depending on the extent and degree of severity. There are HHT treatment centres scattered across North America and Europe, as listed on a website. The trick is recognizing that someone might have HHT, as many family physicians have never seen it and may not recognize the symptoms if they do see it. This is one reason why fewer than half know that they have it. Therefore the need for awareness, so that people can be diagnosed and treated before serious complications occur. In Ontario, there is an HHT Treatment Centre at St. Michael’s Hospital in Toronto (you need a referral from your family physician).

So if you or someone you know has frequent nosebleeds for no obvious reason, or unexplained iron-deficiency, check out the curehht website and consider following up with your physician, especially if it seems to run in the family.

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