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AVM Survivors Network

Are AVM's hereditary?

#41


Joshua M. Griffis said:
Sue,

From what I understand, there are two main stages to HHT testing.

The fist is "clinical diagnosis" . . . (taken from the HHT Foundation's website).

CLINICAL DIAGNOSTIC CRITERIA FOR HHT

1. NOSEBLEEDS, spontaneous and recurrent.
2. TELANGIECTASES, multiple, at characteristic sites including lips, oral cavity, fingers and nose.
3. INTERNAL LESIONS such as: Gastrointestinal telangiectasia (with or without bleeding), Pulmonary AVM, Hepatic AVM, Cerebral AVM, Spinal AVM
4. FAMILY HISTORY- a first degree relative with HHT according to these criteria.

The HHT Diagnosis is:

- Definite if 3 criteria are present
- Possible or suspected if 2 criteria are present
- Unlikely if fewer than 2 criteria are present.

Now you need to keep in mind that most HHT patients are asymptomatic until the 4th of 5th decade of life, and that there is always someone who is the first person to get the diagnosis in a given family. So . . . if you are not sure after this, you can go onto the second part -- Genetic Testing.

A bit too much to go into here . . . so I will just give you the basics (if you want more info, let me know).

Through a blood sample, there will be extensive testing of the endoglin and ALK-1 genes - this testing must occur at one of 5 genetic testing labs in North America (or your respective continent). After mutation has been discovered in one person, it is faily easy and inexpensive to test other family members.

I hope this helps . . . ;)



Sue Roth said:
This is very interesting Joshua. How does one get tested for it? I am thinking it would be a good idea for my daughters get checked out, just to be safe.to

Joshua M. Griffis said:
Hey guys . . .

AVMs are not, in and of themselves, hereditary; however, nearly 70% of people with AVMs in the brain (CAVM), lungs (PAVM), intestines, colon, or other internal organs also have a condition called Osler-Weber-Rendu disease (aka: Hereditary hemorrhagic telangiectasia - HHT), and this condition, as the name suggests IS hereditaty, and needs to be tested for. It is rather rare, and few general practitioners know of it . . . just make sure you have it checked out by someone informed!
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#42

If you have AVMs in the gastro system and colon, can you have them in other places??? I also have headache issues that have just developed over the past year. The neurologist has checked me out and does not see any AVMs at this time.

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#43

Yes, it is a possibility; however, this would depend on the nature and cauase of your AVM(s).

For instance I have had one scrotal AVM, 7+ Pulmonary AVMs and 1 CAVM.

I assume that your neurologist ordered an MRI w/ and w/out contrast? I would suggest asking if a dynamic MRI would be of any assistance.



Alice (Allie) Elaine Mastello said:
If you have AVMs in the gastro system and colon, can you have them in other places??? I also have headache issues that have just developed over the past year. The neurologist has checked me out and does not see any AVMs at this time.
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#44

I am absolutely floored by the number of people who have posted on this thread that they “agree with their doctors that AVM’s are not hereditary”. Hello? Are you reading this thread in it’s entirety? Have you visited the HHT website? They have IDENTIFIED the mutation in several genes that control the formation of blood vessels. It is a PROVEN FACT that AVM’s can be caused by a genetic condition. That doesn’t mean that every person who has an AVM has the genetic mutation but I believe (and all of our doctors agree) that the statistics are low because of the MISINFORMATION that surrounds this condition. The fact of the matter is that if you have multiple AVM’s it is more likely to be caused by a gene mutation. If you have any family history of stroke, seizures, heart attack, bleeding, nosebleeds (i’m sure I’m forgetting something) and you have an AVM you are at greater risk of having a genetic condition.

I personally believe everyone with an AVM should have genetic testing to be safe rather than sorry like I was, 5 HHT positive kids later. I had and have no HHT symptoms and no family history of any of the above conditions. My doctors believe I may be the source. It has to begin somewhere and it can happen to you. I had to learn that the hard way and I’d like to see others avoid that fate.

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#45

CHRISTINE!!!

Thank you! Even after I have posted (a few times) people are saying (sometimes directly after my post) that their doc said no . . . . hmmm . . .

WAKE UP PEOPLE!!! WAKE UP DOCS!!!



Christine said:
I am absolutely floored by the number of people who have posted on this thread that they "agree with their doctors that AVM's are not hereditary". Hello? Are you reading this thread in it's entirety? Have you visited the HHT website? They have IDENTIFIED the mutation in several genes that control the formation of blood vessels. It is a PROVEN FACT that AVM's can be caused by a genetic condition. That doesn't mean that every person who has an AVM has the genetic mutation but I believe (and all of our doctors agree) that the statistics are low because of the MISINFORMATION that surrounds this condition. The fact of the matter is that if you have multiple AVM's it is more likely to be caused by a gene mutation. If you have any family history of stroke, seizures, heart attack, bleeding, nosebleeds (i'm sure I'm forgetting something) and you have an AVM you are at greater risk of having a genetic condition.
I personally believe everyone with an AVM should have genetic testing to be safe rather than sorry like I was, 5 HHT positive kids later. I had and have no HHT symptoms and no family history of any of the above conditions. My doctors believe I may be the source. It has to begin somewhere and it can happen to you. I had to learn that the hard way and I'd like to see others avoid that fate.
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#46

I was told that it was genetic…

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#47

Every neurologist I spoke with said that it did not run in families. However, I had one in the brain and my first cousin had one in his lung. Hmmmmm!!!

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#48

Beth,

Kindly read her entire post . . .



Beth Caroline Nash said:
Hi Christine,
I see you are pretty up on this. But I still think a lot of AVM's are not hereditary - mine was not. So don't assume that everyone who has suffered an AVM can link it to a specific gene. Also if you find out that someone in your family has an AVM what will you do if it is not in a spot that you can operate on? I am not trying to say that your information is not valid but don't assume that other doctors will agree with you......
Beth
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#49

Some think they are and some not. My husbands grandmother has them. She has had them most of her life. My daughter has a tumor they are not sure if it is AVM or not. The doctors do know David’s grandmother’s history.
The first time we went through this when Madison was 10 mo. old the doctor’s said it was a hemangioma. Now some of them think it is a vm. One doctor told me she would not be able to tell us for sure if it was a VM or Hemangioma that my child has.
The Cancer/Hemotology doctor at UNC said that if it is AVM, someone has it other that David’s grandmother and does not know yet. My husband or his dad or another family member that got it from his grandmother.
I do think it is passed on because of my husband’s family history.

I met a man that had a VM on his lip. His grandchild has a hemangioma on the her face.

I do think some doctor’s are finding out that they can be hereditary.
In the five years that I have been reading about this problem. Most doctor’s have gone from not being interested about David’s grandmother’s history to wanting to know more. Some of these are the same doctor’s. Doctor’s are starting to learn more about this problem. That will be good for all of us. Maybe now they will study this problem more and find out new treatments.

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#50

I am fairly certain that you both have the genetic mutation since both you and your cousin have this rare condition. Please get tested, for the sake of your offspring.



Barbara Hanson said:

Every neurologist I spoke with said that it did not run in families. However, I had one in the brain and my first cousin had one in his lung. Hmmmmm!!!
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#51

Joshua,

I know!!! I feel like banging my head against a wall. I’m starting to think people read the thread title, the initial post and nothing else. Or do people really have such blind faith in their family doctors that they will completely ignore the factual evidence that is directly in front of them? If they don’t believe me and my story all they have to do is simply LOOK IT UP ON THE INTERNET.

AVM’s are deadly, passing this to your children is devastating. It is beyond my comprehension that anyone with children, nieces, nephews, grandchildren would take any chances with this condition.

I have spent the last year dealing with multiple brain surgeries, seizures, embolizations, radiation, hospitalizations, IHP’s, hair loss, headaches, nausea, bleeding, MRI’s, denial of health care, tears, how do I tell my boyfriend and will he break up with me because I can’t have kids normally questions (my 19 yo) and doctors, doctors, doctors. All the while I thought to myself that I need to be a powerful voice for AVM patients. I need to be an advocate for people who don’t realize that they may be carriers of a genetic mutation. This thread has honestly zapped the life out of me.

I thought people were not getting tested (there are no statistics but based on my unscientific count less than 5% of AVM patients are tested for genetic causes) because the doctors were not addressing it based on their own ignorance but there is much more to it. Perhaps there is a psychological element of not wanting to feel flawed or not wanting to face such a diagnosis. No matter what the reason it is evident that even when faced with the knowledge that AVM’s can be passed to family members, many people are not willing to pursue testing. Unbelievable.

Today is my birthday and yesterday was the anniversary of my brain surgery. Both of my daughters also had surgery within days of their birthdays. During this time I can never escape the memories of finding out my daughter had an AVM. I went into shock and collapsed on the floor. I never in a million years thought that my AVM was genetic. I believed the doctors when they told me it was IMPOSSIBLE.

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#52


There is cancer in my husbands side of the family and heart problems in both. I have had some of my lung removed on both side that came from a birth defect. It was not the best time of my life. I work hard every day that did not stop me. I was 19-21 when that happened to me. There were other lung problems in our family. It was not AVM that caused that. If it is not AVM it will be something else. I do not want my child to have problems, I do want her to have a good life. Once we find out for sure what is going on I know that I will feel much better. David’s grandmother is 94. She has lived with AVM for most of her life. She does have them in her mouth and in her brain. For the most part she has had a good life. She is still with the program. She just can hear as well anymore. I know she is very lucky. I want the same for my child. The doc’s at UNC tested Maddy for blood disorders and the test came back fine. Should I ask for this test? Do you know they name of these test or what they should look for when they test her?


Christine said:
I am fairly certain that you both have the genetic mutation since both you and your cousin have this rare condition. Please get tested, for the sake of your offspring.

Barbara Hanson said:
Every neurologist I spoke with said that it did not run in families. However, I had one in the brain and my first cousin had one in his lung. Hmmmmm!!!
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#53


When my daughter was a baby we told the docs that my husband’s grandmother had VM’s at the time they told us there is now way it is the same thing. My daughter has had one surgery when she was 10 mo. old and will need another.


Christine said:

Joshua,
I know!!! I feel like banging my head against a wall. I’m starting to think people read the thread title, the initial post and nothing else. Or do people really have such blind faith in their family doctors that they will completely ignore the factual evidence that is directly in front of them? If they don’t believe me and my story all they have to do is simply LOOK IT UP ON THE INTERNET.
AVM’s are deadly, passing this to your children is devastating. It is beyond my comprehension that anyone with children, nieces, nephews, grandchildren would take any chances with this condition.
I have spent the last year dealing with multiple brain surgeries, seizures, embolizations, radiation, hospitalizations, IHP’s, hair loss, headaches, nausea, bleeding, MRI’s, denial of health care, tears, how do I tell my boyfriend and will he break up with me because I can’t have kids normally questions (my 19 yo) and doctors, doctors, doctors. All the while I thought to myself that I need to be a powerful voice for AVM patients. I need to be an advocate for people who don’t realize that they may be carriers of a genetic mutation. This thread has honestly zapped the life out of me.
I thought people were not getting tested (there are no statistics but based on my unscientific count less than 5% of AVM patients are tested for genetic causes) because the doctors were not addressing it based on their own ignorance but there is much more to it. Perhaps there is a psychological element of not wanting to feel flawed or not wanting to face such a diagnosis. No matter what the reason it is evident that even when faced with the knowledge that AVM’s can be passed to family members, many people are not willing to pursue testing. Unbelievable.
Today is my birthday and yesterday was the anniversary of my brain surgery. Both of my daughters also had surgery within days of their birthdays. During this time I can never escape the memories of finding out my daughter had an AVM. I went into shock and collapsed on the floor. I never in a million years thought that my AVM was genetic. I believed the doctors when they told me it was IMPOSSIBLE.
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#54

Melanie.



I’m so sorry to hear of your daughter’s recurring problems. It sounds like you may want to pursue genetic testing since both grandmother and granddaughter are having lesions in the same area. I actually discussed this with the geneticist after our diagnosis. I was curious about why our HHT presented as mainly cerebral AVM’s when it is such a rare symptom of this fairly common condition(one in 5000 people have HHT).

We also had lesions, all 3 of us, in the L frontal area (another child that has no AVM has an angioma also in the L frontal region). She explained that while they don’t know for certain, they believe that each family’s mutation is unique to them and will contain similarities. HHT is the most common but there are other causes. If you have an HMO you need to get a referral to a geneticist. They are the only ones who can determine whether or not her grandmother passed this to her dad and then to her.

The family DR, the ENT, neurologists, neurosurgeons, IR DRs… none of them are qualified to tell anyone that they do or do not have a genetic condition. Actually, that is the bottom line in this whole discussion. If you have or have had an AVM and have not had a genetics consult then you don’t know.

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#55

Christine said:
Melanie.

I'm so sorry to hear of your daughter's recurring problems. It sounds like you may want to pursue genetic testing since both grandmother and granddaughter are having lesions in the same area. I actually discussed this with the geneticist after our diagnosis. I was curious about why our HHT presented as mainly cerebral AVM's when it is such a rare symptom of this fairly common condition(one in 5000 people have HHT).
We also had lesions, all 3 of us, in the L frontal area (another child that has no AVM has an angioma also in the L frontal region). She explained that while they don't know for certain, they believe that each family's mutation is unique to them and will contain similarities. HHT is the most common but there are other causes. If you have an HMO you need to get a referral to a geneticist. They are the only ones who can determine whether or not her grandmother passed this to her dad and then to her.
The family DR, the ENT, neurologists, neurosurgeons, IR DRs... none of them are qualified to tell anyone that they do or do not have a genetic condition. Actually, that is the bottom line in this whole discussion. If you have or have had an AVM and have not had a genetics consult then you don't know.
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#56

from Wikipedia:



Despite the designation “possible”, someone with a visceral AVM and a family history but no nosebleeds or telangiectasias is still extremely likely to have HHT, because these AVMs are very uncommon in the general population.


http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia

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#57

I am sorry you and your family have this problem.
Some of the Doctor’s that don’t know about VM’s don’t understand. It is hard enough to find the best doctor to help. We are going from doctor to doctor. One doctor took a tissue sample. Madison’s is inside of her mouth. I don’t feel comfortable with hearing that everything is fine because up until now We have had four doctors tell us it is a VM or AVM.
I just don’t feel good about it. Now there is a tissue build up on her gum over what the doctor’s were calling a vm. One doctor is saying it is a oral problem. Now we go to another doctor. He does know about these things and how to treat them. She is back to bleeding about once a week from the area. That is better than every day. I am going to ask them about testing when we go to the next doctor’s visit. Thank you so much for the advice.




Melonie Keith said:


Christine said:
Melanie.

I’m so sorry to hear of your daughter’s recurring problems. It sounds like you may want to pursue genetic testing since both grandmother and granddaughter are having lesions in the same area. I actually discussed this with the geneticist after our diagnosis. I was curious about why our HHT presented as mainly cerebral AVM’s when it is such a rare symptom of this fairly common condition(one in 5000 people have HHT).
We also had lesions, all 3 of us, in the L frontal area (another child that has no AVM has an angioma also in the L frontal region). She explained that while they don’t know for certain, they believe that each family’s mutation is unique to them and will contain similarities. HHT is the most common but there are other causes. If you have an HMO you need to get a referral to a geneticist. They are the only ones who can determine whether or not her grandmother passed this to her dad and then to her.
The family DR, the ENT, neurologists, neurosurgeons, IR DRs… none of them are qualified to tell anyone that they do or do not have a genetic condition. Actually, that is the bottom line in this whole discussion. If you have or have had an AVM and have not had a genetics consult then you don’t know.
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#58

Christine,

I completely understand what you are saying . . . I am also dealing with pulmonary hypertension (great!) and Thal Minor . . . all three of my current problems ARE in my family history (Grandparents, uncles, brother, etc.).

I just can not grasp how in the world people can’t seem to make the connection??? YES it IS possible that they are just a 1 off thing . . . but is it really worth it not to look into it?? Especially if other people are having similar problems???

I hope you are feeling well, and that your birthday was nice.

Talk care – and remember, you are in my thoughts and prayers.

Joshua



Christine said:
Joshua,
I know!!! I feel like banging my head against a wall. I'm starting to think people read the thread title, the initial post and nothing else. Or do people really have such blind faith in their family doctors that they will completely ignore the factual evidence that is directly in front of them? If they don't believe me and my story all they have to do is simply LOOK IT UP ON THE INTERNET.
AVM's are deadly, passing this to your children is devastating. It is beyond my comprehension that anyone with children, nieces, nephews, grandchildren would take any chances with this condition.
I have spent the last year dealing with multiple brain surgeries, seizures, embolizations, radiation, hospitalizations, IHP's, hair loss, headaches, nausea, bleeding, MRI's, denial of health care, tears, how do I tell my boyfriend and will he break up with me because I can't have kids normally questions (my 19 yo) and doctors, doctors, doctors. All the while I thought to myself that I need to be a powerful voice for AVM patients. I need to be an advocate for people who don't realize that they may be carriers of a genetic mutation. This thread has honestly zapped the life out of me.
I thought people were not getting tested (there are no statistics but based on my unscientific count less than 5% of AVM patients are tested for genetic causes) because the doctors were not addressing it based on their own ignorance but there is much more to it. Perhaps there is a psychological element of not wanting to feel flawed or not wanting to face such a diagnosis. No matter what the reason it is evident that even when faced with the knowledge that AVM's can be passed to family members, many people are not willing to pursue testing. Unbelievable.
Today is my birthday and yesterday was the anniversary of my brain surgery. Both of my daughters also had surgery within days of their birthdays. During this time I can never escape the memories of finding out my daughter had an AVM. I went into shock and collapsed on the floor. I never in a million years thought that my AVM was genetic. I believed the doctors when they told me it was IMPOSSIBLE.
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#59


Aneuryms can run in families (like heart disease or diabetes can). AVMs do not show evidence of running in families.


Sheila Hillhouse said:

I have been told they are not, but ironicly in my situation, I have a great grandmother who died from a brain aneurysm. My younger brother and sister also have suffered from seizures, but not caused from an avm. It does make you wonder if there’s a connection though.
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#60

Thanks to Christine, I am going to ask Madison’s doctor about testing. It want my girls to know if they can pass this on to their children and let them make the choice. Just like they know that about other family health problems.




Melonie Keith said:

I am sorry you and your family have this problem.
Some of the Doctor’s that don’t know about VM’s don’t understand. It is hard enough to find the best doctor to help. We are going from doctor to doctor. One doctor took a tissue sample. Madison’s is inside of her mouth. I don’t feel comfortable with hearing that everything is fine because up until now We have had four doctors tell us it is a VM or AVM.
I just don’t feel good about it. Now there is a tissue build up on her gum over what the doctor’s were calling a vm. One doctor is saying it is a oral problem. Now we go to another doctor. He does know about these things and how to treat them. She is back to bleeding about once a week from the area. That is better than every day. I am going to ask them about testing when we go to the next doctor’s visit. Thank you so much for the advice.


Melonie Keith said:

Christine said:
Melanie.

I’m so sorry to hear of your daughter’s recurring problems. It sounds like you may want to pursue genetic testing since both grandmother and granddaughter are having lesions in the same area. I actually discussed this with the geneticist after our diagnosis. I was curious about why our HHT presented as mainly cerebral AVM’s when it is such a rare symptom of this fairly common condition(one in 5000 people have HHT).
We also had lesions, all 3 of us, in the L frontal area (another child that has no AVM has an angioma also in the L frontal region). She explained that while they don’t know for certain, they believe that each family’s mutation is unique to them and will contain similarities. HHT is the most common but there are other causes. If you have an HMO you need to get a referral to a geneticist. They are the only ones who can determine whether or not her grandmother passed this to her dad and then to her.
The family DR, the ENT, neurologists, neurosurgeons, IR DRs… none of them are qualified to tell anyone that they do or do not have a genetic condition. Actually, that is the bottom line in this whole discussion. If you have or have had an AVM and have not had a genetics consult then you don’t know.
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