My 9 year old was thought to have a spinal avm. We are from south Florida. We traveled all the way to Boston to have an angiogram confirm this after having two very suspicious MRI/MRA at home. The angiogram didn’t reveal anything but they are saying may be to small to see and to repeat MRI/MRA in 6months. Well today they decided to go ahead with a genetic appt which lead us to a bubble test for HHT. The bubble test was positive. Does this mean lung avm for sure? And now I’m really wondering about the spinal avm again. I’m hoping it wasn’t missed although they said the pictures were good. Now I need to worry about avm in other places? My son lives with back pain, leg pain, headaches and just other extremity pain at time.
To my knowledge, it would be just pure coinsidence if your son and daughter both were to have an AVM. It is not hereditary, but congenital, meaning it is there from birth. AVM's are embryonic blood vessels that never mature past that stage. Hope all turns out well for you guys. I also traveled from CA. to Boston for Proton Radiation at Mass. General. Is that where you went?
If the HHT is positive they will begin testing for avm’s in other parts of body. Just because the test is positive does not mean there are any more - they will need to check. Are you at mass general with :r lynne/Lind – if you are great if not get to mgh and have her see your son she is the genetic leader for HHT in the world. My son was not positive for HHT but, we have another genetic situation going on that they are watching… Good luck
Avms can be hereditary dependent upon gene - HHT is genetic - his offspring will have a 50% chance of having them
Yes Dr. Lin at mass general. We have to go home though as we live in Florida. She is perplexed with his symptoms and what this could be. But is a positive bubble test a clear indication for lung avms? That us my understanding.
The blood test won’t come back for 3 months maybe we just have the positive bubble study from today
The only way to determine lung avm is via MRI/MRA according to what they shared with us - HHT will take less than time to ave results - she is wonderful she will refer you to the team that will determine where to look. For us they looked in lungs, heart, liver it is heart wrenching tobe in the waiting stage- will they work with your team in Florida for images?
Jennifer, I found this information on an HHT site:
"Currently in North America, a contrast echocardiogram (echo bubble) is usually recommended to screen for lung AVM in adults, every 5 years. It is a very sensitive test (meaning it will miss very few lung AVMs), but everyone with a 'positive' or 'abnormal' echo bubble test does not necessarily have a lung AVM large enough to require treatment. To determine who requires treatment by an embolization procedure, a chest CT scan is usually done to follow-up on a positive echo bubble test."
I also read that other conditions can cause a positive bubble test, such as an atrial septal defect.
I will share that we don’t have HHT but, I had an avm in my brain that was removed 20 years ago and have another in my left arm. Our 10 yr old son has one left parietal lobe. Dr. Lin shared that it is genetic but does not know what gene caused it. You are in good hands. I would begin
To put together a family tree looking for stroke or early death – it will help dr. Lin
Help you. I am not sure about the bubble test…
The HHT International FB page would be another good place to ask about bubble studies and what they mean.
I had two angios prior to finding my AVM on the third.
Please tell me why could they not see it the first and second time? This is a real worry for me. I was told the angio pics were of good quality.
I don't think any of us can answer this, Jennifer. The neuros are the best ones to explain it. It is very common here for members to experience conflicting interpretations of the same scans. It adds to the anxiety, I know, but eventually things will be come clearer. You and Jon's dad are in the worst phase right now -- the suspense phase. Take a deep breath and keep trying until you get some answers.
I am so sad about your dilemma's.
I would suggest to go to at least a few MORE doctors. Before I had my very large brain AVM surgically practically removed in 1990. Before that, I saw many neurosurgeons, all around our country, to see which one would be the best for me. It took a little work, but it was WORTH IT.
Think about that!
Good, good luck to your son, you and your family!
Lisa A. Stuckel
The problem that is killing us is the back and forth. We had 4 neuro surgeons say 99% chance there’s an avm there. The way the MRI mra looked. We even asked is there anyway this is nothing. Every surgeon said no way. Then after the angiogram they came in and said no avm it’s clear have a nice day and now won’t even return phone calls. It is hard because we just want to know what is so convincing on 4 different mris that is not convincing on the angiogram.
Your son has symptoms. That doesn't equate to nothing. Keep trying, Jon's dad. I'm really sorry the docs haven't been making this easier for all of you. But don't give up.
Jon's dad if they are thinking HHT go to HHT.org and get to a center. Atlanta GA has one. If it is not HHT they will get you where you need to go. My husband has HHT that presents as nosebleeds but can present as AVMs in lung or brain. It is a genetic disorder and is inherited and does not skip a generation . Please don't stop. The echo bubble test is very sensitive and is what they use to screen for lung avms in HHT patients.
Susan in HHT both can have AVMs.
My daughter was not diagnosed for her spinal AVM until she was about 14.
For years she had the same symptoms your son has. The leg and extremity pain etc. We went from doctor to doctor. All kinds of tests. Then finally they did find it on the MRI. She has AVM’s inside and outside her spine. She has had several angiograms over the last 10 years to monitor her. Apparently when she was younger they were to small to see.
It was frustrating to have the doctors go back an forth from it’s nothing to yes it is an AVM.
1 year ago she had radiation treatment at Stanford California but no improvement yet.
I would not ignore it but get another opinion about what they saw on the MRI.
You’re in my prayers.
What we don’t understand is how they are seeing it on the MRI and not the angiogram. All the neurosurgeons told us 99% chance it’s an avm the angiogram is just a formality. Then it didn’t show up on the angiogram. Then they said it might be a engorged venous plexus and enlarged veins. Or it could be the avm is to small for the angiogram. We thought the angiogram was more detailed than the MRI/ mra. We don’t understand how the opinions keep changing