BARRHEAD – There are families across Alberta who pass the Hereditary Hemorrhagic Telangiectasia (HHT) disorder through their genes through the generations.
June is HHT Awareness month, and this uncommon blood vessel disorder affects one in 3800 people in Alberta with the most common symptom being nosebleeds.
The number of nosebleeds and the length of time to stop a nosebleed can be shocking, some nosebleeds lasting off and on for an entire day.
“My mother tells me I started having nosebleeds about eight months old,” said Delaine, someone who has spent the last 20 years educating herself and others on H.H.T. while treating her disorder and the symptoms.
“I saw my dad and my grandmother with nosebleeds often.”
She says she couldn't even get on the bus to go to school some mornings and probably spent more time out of the classroom than she should have, trying to get a nosebleed stopped.
Her worst years were the teen years.
Families all over the world from all racial and ethnic groups are affected.
It is not just nosebleeds either.
Abnormal small blood vessels surface on the skin, face, hands, lips, in the mucous membrane that lines the nose, and in the gastrointestinal track.
Larger blood vessels can be involved in the internal organs specifically lungs, brain, and the liver.
These large abnormal blood vessels are called arteriovenous malformations (AVM) and they have a greater tendency to rupture and bleed.
Both the small abnormal blood vessels and the AVMs have the potential to appear as an aneurysm or cyst, or cause strokes or seizures in children and adults, or other serious complications.
The research shows that approximately 30 per cent of HHT patients may have one or more lung AVM that could rupture and are life threatening.
Brain AVMs occur in about 15 per cent of patients where ruptures can be life threatening
HHT patients that experience symptoms of black or bloody stools, anemia, fatigue, or lightheaded feelings equate to about 25 per cent of diagnosed patients.
Seventy per cent of HHT patients are diagnosed later in life with the disorder because of liver AVMs.
Spinal AVMs are less common in HHT patients.
Delaine has been diagnosed with a very rare 20-cm VM that causes her intense pain in her hip.
It has required six embolizations with what has been referred to as ‘space age crazy glue’.
Screening and diagnosing at an HHT centre is important and there are trained specialists at the University Hospital in Edmonton.
The international organization said on their website 80 per cent of people with HHT are undiagnosed.
HHT disorder has also been referred to as Osler-Weber-Rendo syndrome as early as the late 1800s.
Through the international foundation, research specialists and scientists are still working on this in many different areas but there is still a lot of work to be done.
Some of the good research work has been happening in Europe and in the United States.
Every patient and every family are a little different in what they may be experiencing or how many family members have some of the medical problems.
HHT is not a blood clotting problem, it involves the blood vessels and H.H.T. is not like hemophilia.
HHT patients inherit blood vessels that lack capillaries between an artery and vein which makes the connection fragile and susceptible to rupturing and bleeding.
Treatments vary between patients.
Delaine avoids anti-inflammatories that increase a blood thinning problem.
In the last 20 years there have been advances in treatments and support is available.
There are four internationally approved centres in Toronto, Montreal, Winnipeg and Edmonton.
The HHT disorder is complicated and complex but if someone you know has nosebleeds or external port wine or strawberry birthmarks, they may want to investigate HHT.
The international website is https://curehht.org/ In Edmonton the local website is http://www.hhtedmonton.ca/
