Hi all-

Can someone tell me about HHT? Is it something that is specific to brain/lung/heart AVMs? Has anyone known if its present in any other AVM cases? I have a peripheral high output AVM and have never until I found hht.org found that there was a genetic component I was always told it was congenital. Lemme know!

People with HHT have a higher than normal (if there such a thing) risk of having AVMs. Not all people with AVMs have HHT, however. From what I’ve read about it, it seems most of the AVMs with an HHT component occur in the brain or lungs. Most doctors still agree that AVMs are congenital. HHT however is hereditary. Have you been tested for HHT? I was never tested and now that I am aware there is such a thing I’m being told that I don’t meet the criteria for testing. I think a lot more doctors need to be aware of this link between AVMs and HHT.

I have an email into a friend who’s a genetic counselor. I don’t know if I meet the characteristics of being tested either, but it’s something intriguing, especially on the upswing that we might want to have kids at some point. If there is a genetic component to this that I’m missing and don’t know about, I’m just scared to pursue having kids without knowing is all.

My daugther has a large avm in her thigh and she was sent for genetic testing - but to test her for the RASA1 mutation gene. If this comes back positive, it will “confirm” her diagnosis of that the growth in her thigh is infact an AVM - according to our doctors. Our daughters didn’t blink an eye when they found her AVM, they went through went the next round of testing would be - and genetic testing was mandatory.

also if she does test positive for the RASA1 mutation gene - then my son as well as myself and my husband will have to be tested for it as well.

I’m waiting for my appt to be evaluated for HHT.
1 spontaneous nosebleeds
2 AVMs
3 telangiectasias
4 first degree family member with HHT

If you have 2 of these it is possible HHT and 3 it is probable disease. There are 3 genetic mutations that are associated with HHT.
There is no treatment for the disease, only symptom management and screening for brain, lung and liver avms.

I have telangiectasias, a uterine AVM and a son with spontaneous nosebleeds–basically I think my dr just wants to know if they can add a few more pages to the giant medical file at this point.