I have been told by a doctor that avm’s are formed in the fetus before birth…a birth defect…but my father, many years ago before all the testing we have now was available died of internal bleeding. He started bleeding in the GI area one night, was rushed to hospital and given transfusions and bled out as fast as they transfused and died within 24 hrs. I have a small avm in my small bowel and now I believe that is what he had…his previous intestinal problems are so similar to mine…the pain, weakness, not feeling well, but in those days in a small town he just doctored himself or went to the local doctor.
Rae Bell said:
I have been told by a doctor that avm's are formed in the fetus before birth......a birth defect.........but my father, many years ago before all the testing we have now was available died of internal bleeding. He started bleeding in the GI area one night, was rushed to hospital and given transfusions and bled out as fast as they transfused and died within 24 hrs. I have a small avm in my small bowel and now I believe that is what he had.....his previous intestinal problems are so similar to mine.......the pain, weakness, not feeling well, but in those days in a small town he just *doctored* himself or went to the local doctor.
Your Dad sounds like the same issues. My Mother had the same bleeding GI system and her heart gave out. You are right, back then, they did not check things out like they do now. Well, I say that “with a grain of salt”. I woke up this morning with vessels broken in my eye. Look like I am starting early on Halloween. lol I am so glad you will contact your dr. on the infusions. You will not be sorry. If you are taking iron by mouth and your ferritin is that low, you are like me, you are not absorbing it. Just futher irritating your GI system.
Alice (Allie) Elaine Mastello said:
Rae Bell said:I have been told by a doctor that avm's are formed in the fetus before birth......a birth defect.........but my father, many years ago before all the testing we have now was available died of internal bleeding. He started bleeding in the GI area one night, was rushed to hospital and given transfusions and bled out as fast as they transfused and died within 24 hrs. I have a small avm in my small bowel and now I believe that is what he had.....his previous intestinal problems are so similar to mine.......the pain, weakness, not feeling well, but in those days in a small town he just *doctored* himself or went to the local doctor.
It is also dangerous for you to be that low. Your hgl is most likely within normal limits, as they say, but with the stores that low, your body could not handle a big bleed…trust me!
HEY Jessica I would have to agree with you on this one a lot of people have them and they never even know it
Jessica Ables said:
Sue,
Every site I've visited and every doctor I've asked have said that AVM's are not hereditary. They occur when we are still developing as a fetus. The cause for why or how they initially develop is still unknown. Before I was diagnosed with mine, neither myself or anyone in my family had even heard of this. They occur in only .14 percent of the US population. That's roughly 250,000-280,00 people and a large percentage never hemorrhage/bleed or are even discovered. I hope this helps some. Take care.
I think they are in some cases. My husband's grandmother has AVM's in her mouth and one in her brain. She is 94 years old.
She has had heart problems for 50 yrs. She has had them most of her life.
My daughter has had two growths so far on her gum line. The first deep. She had the first surgry at about 10 mo. old. The doctor did a great job. She is six now.
Madison has had MRI's and CAT scans. They first said it was a Hemangioma. Now we are not sure. So far it has not come back. I want to have her blood tested for it. I am not sure what test to ask for.
We took Madison to a doctor at UNC last fall. She told me that they are just finding out that it can be hereditary.
Tricia said:
This is really a tough one, some say "yes" orthers say "no". My daughter had all my symtoms, had an MRI, & it came back clear. ( Thank goodness). I think like Shalon says the chances are very low
My very unscientific input is this: My AVM was in 09. In the 1940's I had an Aunt, who I never met I was born in the 60's My Aunt died suddenly with no prior symptoms while dancing with friends at a night club! All the Docs vsaid is it must have been some kind of tumor that ruptured...They had no idea what it was and where all the blood came from?!! I sincerely believe now it must have been an AVM. I have no proof or evidence. But she was young; 29 or so, in good health otherwise. The autopsy described the mass as a tumor. I think now it must have been an AVM?! Unscientific research at best. but another known relative (female in my family with AVM-like symptoms? possibly a genetic relationship??? not sure ?
thanks
Nicole L.
How are you doing? Have not talked to you for awhile.
Alice (Allie) Elaine Mastello said:
Rae Bell said:I have been told by a doctor that avm's are formed in the fetus before birth......a birth defect.........but my father, many years ago before all the testing we have now was available died of internal bleeding. He started bleeding in the GI area one night, was rushed to hospital and given transfusions and bled out as fast as they transfused and died within 24 hrs. I have a small avm in my small bowel and now I believe that is what he had.....his previous intestinal problems are so similar to mine.......the pain, weakness, not feeling well, but in those days in a small town he just *doctored* himself or went to the local doctor.
I have been told by my doctors that they are not heredtary. I am beginning to wonder, after reading the responses.
Jennifer
Okay, I'm a researcher so this is a bit of jargon, but it might be useful to you:
AVM's are what are called post translational modifications. They are protein tears, lipid tears that repair themselves incorrectly. Some are more extensive then others.
AVM's can also be caused by injury.
To my knowledge AVM's are not hereditary, but I'm gonna get karyotyped now that we're thinking about having children, just in case. :)
As someone mentioned before, HHT (Hereditary Hemmorhagic Telangiectasia aka Osler-Weber-Rendu)--which I recently found out I have--is definitely hereditary, and this disorder predisposes you to have AVMs in your brain (20% of people w/ HHT have it here), lungs (30-50%), GI tract (20%), spine, or liver caused by malformed blood vessels. Each of my 3 daughters has a 50% chance of inheriting it, yet many families don't even realize they have it and are passing it on. The predominant symptoms are nosebleeds (due to those malformed vessels in your nose)...usually beginning around age 12 but sometimes don't show up until your 30s or 40s. The scary thing is that the "ticking time bomb"--an AVM--may be lurking and doctors don't know about HHT and think it's random event when it ruptures. My great-grandfather died from a brain hemorrhage, but my grandmother and mom didn't have complications, so it has continued as "random" until my ENT remembered something he had read about HHT and related my nosebleeds....and it changed my life! I learned a lot through hht.org (and I'd be happy to answer any questions). Sorry for the length of this, but it's appalling to me how little is known about HHT and how easy it is to do preventative screening and genetic testing! I am very glad I have the opportunity to get my lung AVM embolized instead of learning about it if/when it ruptures! I wish everyone with HHT had that chance--if only they knew to be tested before it happens....
1 Like
Actually, the genetic testing is now easier–my HHT specialist, Dr. Goodenberger at UT Southwestern in Dallas, just arranged for Ambry Genetics to send me a packet. I had to spit into a little test tube (yeah, nice, huh?!), then I Fed Exed it back in the pre-paid postage envelope. It takes about 20 days to identify the gene, and they handle the insurance. Sounds like it will be $200-300 for me to be the first one tested in my family. There is also legislation trying to be passed to get doctors more informed about HHT–all very interesting! Check out HHT.org for more info. 
Christine said:
As I read this thread I want to SCREAM! YES!!!!!!!! It's so frustrating.
AVMs are a vascular malformation and there are several genetic conditions that cause vascular malformations. It has been stated on this thread that these genetic conditions are rare but I believe that is FALSE information.
I cannot speak for any condition other than mine but please listen.
At the age of 13 I was diagnosed with an AVM. At the time my mother specifically asked the best neurosurgeons and neurologists in the state of CA if it was hereditary and they said no (ironically one of these drs also treated my daughter)
25 years later my youngest daughter has a seizure. Even with my history of AVMs the ER drs and on call neurologists said it was just a formality to admit my daughter for more testing. When I came back from lunch one day and my husband told me my daughter had an AVM I collapsed on the floor in tears. Not only one AVM but multiple AVMs. Next child tested has 2 AVMs in her brain and 1 in her lung. ALL 5 children test positive for HHT, Hereditary Hemorrhagic Telangiectasia.
1 in 5000 people have HHT. HHT is a defect in the gene that forms the arteries and veins so there can be AVMs anywhere in the body. This leads me to the diagnostic criteria and my personal observations.
Of my 5 HHT positive children
2 have frequent nosebleeds (one also has telangiectasies)
2 have cerebral AVMs
1 has pulmonary AVM (also has cerebral AVM)
1 has venous angioma
1 has telangiectasies (small red spots or mini AVMs on the skin surface or in mouth)
The one who has the visible telangiectasies is the eldest, now 19. She did not have any signs until age 14. She sctually had the spots checked by several doctors, none of whom identified it as a telangiectasia. She had nosebleeds as a child but they did not seem abnormal until recently, in the last 2 years.
I have no symptoms of HHT (other than AVM), neither do my parents, aunt or cousin.
Too many doctors are completely ignorant when it comes to this condition. At the hospital where my daughters were treated we met drs who were amazed by us because they had no idea it was hereditary. The doctors who do know about it are too quick to dismiss it because of it's "rarity" or because of the diagnostic criteria.
Here are what I consider to be the problems of the diagnostic criteria as posted earlier on this thread.
1. NOSEBLEEDS, spontaneous and recurrent.
From the HHT.org website, symptoms such as nosebleeds often to not occur until 30's or later. In my own family you see ony 2 of the 6 HHT positive individuals have ever had nosebleeds and those did not occur with any frequency until late teens in one of them.
2. TELANGIECTASES, multiple, at characteristic sites including lips, oral cavity, fingers and nose.
Same as above. These signs do not tend to show until mid life if at all. In my family only one of 6 has these visible lesions.
3. INTERNAL LESIONS such as: Gastrointestinal telangiectasia (with or without bleeding), Pulmonary AVM, Hepatic AVM, Cerebral AVM, Spinal AVM
These would not be discovered without testing. However, since the introduction of the CT and MRI there have been many more individuals diagnosed with AVMs. What used to be an extremely rare disorder is now becoming more common.
4. FAMILY HISTORY- a first degree relative with HHT according to these criteria.
The first flaw with this criteria is that there has to be an origin. In my family I am believed to be the origin although we cannot be sure since my father passed away before we knew about the genetic component. The second is that AVMs were underdiagnosed in the past due to lack of disgnostic tools as mentioned above. Also there are possibilities that the carriers were asymptomatic or did not have AVMs. The likelihood of being tested for HHT prior to the 1980's seems very slim to me. Even now doctors are disseminating false information and denying people the right to make an INFORMED decision about whether or not to get tested. This leads me to my last point.
IT'S ONE BLOOD TEST TO DETERMINE WHETHER YOU MAY OR MAY NOT PASS A POTENTIALLY FATAL DISORDER TO FUTURE GENERATIONS. WHY NOT DO IT?
1 Like
I have been told they are more common then we think it is only when we present to a doctor or hospital with symptoms that they will start looking for them. One of my Nero Specialist basically said if they where to scan every one they would probably find an AVM in us all somewhere. My sister has a Cavernoma only discovered about 4 week ago now. I had my aneurism and AVM found back in 2006, Does this mean my other Sister needs to be checked for one maybe but there are other health risks associated with the angiograms MRI’s and other scans what about my Niece and when I start a family do I live in fear that I will pass it on NO the big question is make the most of the life we have.
Hi all.
In my case, avm’s are hereditary. We have been tested through genetic counseling and in our case they found that it was a sex-linked condition that was passed down from my father. I think that each person and each family is different, but I do believe that it is some how genetic.
-best wishes
All I can say is please, please, research HHT (hht.org) and see if it fits. It’s possible one of your grandparents had it with no AVM involvement. My mom and grandmother only had nosebleeds (though some don’t even have that and go through life never knowing about it, but they do pass down the gene). It definitely sounds like there is a genetic component to your family’s history. It’s really up to you to be the “voice” and find out–in my experience most doctors can’t see that big picture like you can…even then, most don’t know about HHT. I posted more info above if you are interested. Good luck!
Magpie25 said:
I was extremely surprised to find that scientist and doctors generally don't believe AVMs are hereditary. I come from a very large family, with 11 people who have had AVMs. My father is one of those people and at least 5 of his siblings have had AVMs. They've mostly had AVMs in different places (lungs, brain, spine, etc.). Of 6 siblings who had AVMs, 3 of them also had at least one child with AVMs, again in various places (nose, spine, etc.). I have a very large family, and there could be other people who also have AVMs but not everyone has been to a doctor to look into it. I don't think my paternal grandparents had it but we think my paternal grandfather's brother did. So, I'm beyond surprised that top researchers and doctors say it's generally not hereditary. Maybe they should study my family.
I have been told they are not hereditary, but my mother has one and so does my daughter, all in the same place.My mother has had many bleeds and strokes and is now in a wheelchair, barely able to talk etc whereas my daughter has no problems whatsoever.
yes it is
Christine,
Yesterday I read your posts abut AVM and heredity. I also have been told by doctors for 50 years - not hereditary - and I also repeated it. Even to my son and his new wife. I now know after reading your smart replies, and after doing a bunch of research on it today, that an AVM is generally a hereditary disease.
I always wondered if these doctors were wrong or just said no because they did not know an answer. It always seemed to me that the AVM came from somewhere, that there was some reason for them. RASA-1 seems to be the answer. I know of no one else in my large family with an AVM or anything similar, but as my husband used to say "It’s a smart person who knows his own father."You ade me aware. People need to really read and understand what you wrote about genetics.
Now that I think this is all true does not mean it is, in fact. The proof is in the genetic test. What do I tell my son, and when? If genetic tests take one year to finish, it may be too late to say I was not knowledgeable enough to have answered their question about AVM and heredity.
Thanks
beans
Thank you for supplying us with all of this information and telling your story. 3 of us in our family have multiple Cerebral AVM’s, 6 craniotomies between the 3 of us. AVM’s became apparent to our family after my brother had a seizure and after my dad was diagnosed. Back in 2004 our neurosurgeon at Kaiser Permanente recommended us to go through genetic counseling; it was then that we discovered that it was an X-linked disease (for our case). Because it is hereditary, we know that we can also pass this down to our children as well.
I think 10 years ago there were not as many cases of AVM’s (or reported cases) that there are today. Before, people would think headaches, nose bleeds, migraines are just minor aliments, and they did not realize that something so minor, could actually be major. With the development of new medical and scientific tests and techniques; and the fact that more cases are appearing and being linked, I think that the disease is the “limelight” and people are now just realizing the big picture. I think now-a-days the word is out, and we just need to keep spreading the awareness and keep supporting each other.