AVM Survivors Network



Hi all!

I hope you are all well.
Just wondering if you guys have been advised to or have had genetic testing regarding your AVMs and what they actually tested for in general?

I was recently advised by a neurologist, during a second opinion that I should have been referred for genetic testing to rule out Von Hippel-Lindau syndrome (VHL).

Because of my family history of renal cancer and my history of recurrent bilateral renal AVMs apparently it should have been investigated long ago…however as I’m sure most of you would understand it is quite difficult to find a doctor that knows any thing about AVMs in general.

I have been told it is highly possible that any children I may have will inherit the aim issue also.

What experiences have you guys had in that regard?



Hi kirrilee, it’s an interesting question you pose, thank you for raising it, as i have recently had some genetic tests done, as I have recently been diagnosed with a genetic condition called HHT see weblink… https://www.nhs.uk/conditions/hereditary-haemorrahagic-telangiectasia/
(I’m still waiting for the full details from these genetic tests).
What has been interesting for me is that I’ve had nose bleeds all my life, had ENT specialists investigate and cauterize my nose as a child, all to no avail.nose bleeds continued regardless.
At no point did any medic suggest a scan for AVMs/or any other abnormality that may be causing these regular nose bleeds.

As you will see from my profile I discovered that I had an AVM in my brain(occipital) when the AVM ruptured in 2012. 2 of the main elements of HHT are AVMs and nose bleeds .
2 days prior to my brain haemorrhage I had the most enormous nosebleed, for3 hours, which wouldn’t stop so I headed up to A&E. I was bleeding out of both nostrils and both my eyes.

At no point did any A&E medic suggest a scan for AVMs/or any other abnormality that may be causing these regular nose bleeds.

As I say, I’m still waiting for the genetic findings of my particular strain of the HHT faulty gene I have, so I can get the rest of the family tested too.

I would be very interested in hearing from others who may have similar experiences.
I’m also keen to make as many folks aware of the link between AVMs and the HHT condition, particularly with HHT being hereditary and therefore affecting the wider family greatly.

If I had known I had HHT I would have been screened and the AVM identified prior to it haemorrhaging. So i hope this post can save others unnecessary injury.

Having said all that, I have adjusted to my new brain injured lifestyle, and look forward to what God has In store for me, as He clearly hasn’t finished with me yet!:smiley:

Welcome, chm

Hi there,

Here are some additional articles about genetics for AVMs.

Two doctors in Belgium are doing work in this area: Miikka Vikkula and Laurence Boon.

And also a team from UCL in the UK lead by research scientist Lara Al-Olabi.





This is such an important and current topic, I’ve moved it to the AVM 101 category.

Jaz, I also saw this post the other day, which again covers the UCL and GOSH work:

I know HHT is a genetic condition that would indicate AVMs. I’m less familiar with VHL. In both cases, you’d expect doctors only to recommend genetic screening where the relevant indicators for either condition are present.

I’m very interested to read about the article than Jaz posted. Once I’ve had a read, I might chat a bit more.

Thanks for asking this question and to Di, Jaz and @KoalaLove for their posts.