HHT & AVMs

Well, I had this post ready to go for the end of June but somehow it didn't make it up!  So this is more of HHT Awareness Month!  Hope you are learning something!


 I found this fabulous article and wanted to share parts of it.  Now I can't find the link!  EEK!  Just being honest here...this it totally not my writing.....unless I interject in which I will change the font color!! ;)

 About one in 5,000 people—or 1.2 million people worldwide—have hereditary hemorrhagic telangiectasia (HHT).

Patients with HHT tend to form blood vessels that lack capillaries between an artery and a vein. As a result, arterial blood under high pressure flows directly into a vein; normally the blood has to squeeze first through very small capillaries. When an artery is connected directly to a vein, it tends to be fragile and can rupture, resulting in bleeding. A small blood vessel that is abnormal in this manner is called a telangiectasis. A lesion involving larger blood vessels is called an arteriovenous malformation (AVM). Whether a telangiectasia or an AVM, the basic abnormality in the blood vessel is the same.

Telangiectases often occur at the surface of the body, including the skin and the mucous membrane that lines the nose. Almost all HHT patients develop at least a few telangiectases (small red or purple spots) on the skin of their face or hands by the time they reach middle age.

I have some of these in my mouth and on my lips.  I also have one above my left eye.  Kennedy has a few on the inside of her mouth and a larger one on the curve of her lip.

AVMs tend to occur in the internal organs—most commonly the lungs, gastrointestinal tract, brain, and spine, in that order. Abnormal blood vessels also are common in the liver. 

Between 30% and 50% of patients with HHT have AVMs in their lungs. These pulmonary AVMs (PAVMs) are poorly understood. Little is known about their history or growth rate. Between 5% and 20% of patients have an AVM in their brains. They also are present at birth.

My father has had PAVMs and had them treated.  I have had PAVMs and had them treated (4-5 times now).  We don't know yet if Kennedy has any.  Sam had some at the base of his brain.  

The greatest risk for patients with PAVMs is stroke or a brain abscess, which also can be life threatening. “In the normal lung,” he explains, “the capillaries between an artery and vein serve as a filter for impurities in the blood, including clots, bacteria, and air bubbles. The impurities are removed before the blood circulates to other parts of the body, including the brain. But when one or more AVMs are present, these impurities can pass through the AVM, go to the left side of the heart, and then on to the brain and other organs.

“Patients who have very large PAVMs also can have problems with their oxygenation, so they can have very severe exercise intolerance,” he continues. “They can occasionally literally turn blue.” 

My father, myself and Sam have had strokes.  I was lucky that I had almost no side effects.  My father was not so lucky.  He has had 3 strokes.  The first was major - it is truly a miracle her survived and recovered.  Sam had a least one stroke in utero, possibly more.  Complications from the stroke(s) are what caused him to die.  

HHT is definitely a manageable!  I will be back soon to discuss ways to treat AVMs!!!

HHT and Nosebleeds

I recently posted about June being HHT awareness month and how I hoped to share more with all of you.  So here we go!

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Kennedy was recently clinically diagnosed with HHT.  Here is what the doctors look at:

DIAGNOSIS
The clinical diagnosis of HHT is considered:

Definite when three or more of the criteria below are present

Possible or suspected when two of the criteria below are present

Unlikely when fewer than two of the criteria below are present

Diagnostic criteria for HHT:

1. Nosebleeds(epistaxis): spontaneous and recurrent
2. Telangiectases: multiple, at characteristic sites, including face, lips, oral cavity and fingers
3. Visceral AVM (pulmonary, cerebral, hepatic, spinal) or gastrointestinal telangiectases (with or without bleeding)
4. Family history: a first degree relative with HHT according to these criteria

Kennedy has #4 - Sam had HHT and I have HHT.  She has #2 - a few spots inside her mouth.  And she has #1 - luckily her nosebleeds have never been severe. But I do have the school nurse chart them so we can keep a record.  So, we did not do genetic testing for and myself and my father have never had it done either.  We are currently looking into genetic testing for Quinn and are waiting to hear from our insurance company.  Fun times, right?! 

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One of the most common symptoms of HHT is nosebleed.  In fact, 90% of HHT patients have recurrent nosebleeds.  Of those, 30% began seeing nosebleeds by age 10, and 80% by the age of 21.  I remember getting just a few nosebleeds as a kid.  My father had them much more often and they were much more severe.  There are some HHT patients who become anemic from the loss of blood through nosebleeds, some become transfusion dependent, many can't live a normal life due to crazy amounts of nosebleeds.  There are several treatments, but none of them seem to stop bleeding altogether. 

There is a nosebleed severity scoring tool that HHT Centers use to help determine possible treatments.  It is a scale of 1-10 and my score is 1.92.   If you would like to score your nosebleeds or those of someone you know, go to this site: Epistaxis Scoring Tool.  It takes a minute.  

Some treatment options are as follows:

• Young's Procedure - closes the nasal cavity
• Nasal Packing 
• Laser Treatments - used to cauterize the vein
• OTC ointments - to keep the nasal cavity lubricated
• OTC nasal sprays - same as ointments
• Septal Dermoplasty - replaces the nasal lining with thicker skin
• Avastin - a drug that has just recently been used to help by slowing blood vessel growth
• Hormone Therapy

If you or someone you know suffers from recurrent nosebleeds with HHT, there is a study going on to look at several of the treatments mentioned above.  If you would like to participate you can check out the info here: NOSE study.  

I feel very blessed that nosebleeds haven't been a horrible side effect for me.  And I pray that Kennedy's continue to be minimal.   

Hope you learned something new about HHT!!!!  Thanks for reading! 

 

 

HHT Awareness Month

 In the past on my blogs I have mentioned that I have HHT.  I have spoken about how Sam had HHT.  I have shared little tidbits here and there about HHT.  But it is time for me to begin sharing even more.  Being that this is HHT Awareness Month, I believe this is a fitting time! 

A few weeks ago I took my girls to a local doctor interested in treating children with HHT.  I have had a hunch for quite some time that Kennedy had HHT and figured it was time to know for sure.  Dr. McBride was fabulous...she is the FIRST doctor I have MET that actually has HHT and has children with HHT.  I can't tell you how comforting it was to actually meet with someone who knew what we were talking about!  She quickly diagnosed Kennedy with HHT, as I suspected.  I am looking into genetic testing for Quinn as she isn't showing any outward symptoms as of now. 

Over the course of the next month I will be sharing a bit about HHT and also personalize it for you by sharing how it has affected our family.  I hope you will read along!!  It may affect someone you know! 

First, I ask that you watch this video.....it is worth it!   My doctor, Dr. Chakinala, speaks in it...I will see him again in a few months!

The HHT Foundation's Awareness Campaign has 3 goals:

1. Identify the 90% that are Undiagnosed - The more people hear about HHT - through word of mouth, watching a video, reading a post on Facebook, or researching nosebleeds on Google - the more people will be aware of the disease. This will ultimately lead to self-diagnosis, a visit to a medical professional, or a call to the HHT Foundation. These actions alone can potentially save a life!
2. Educate Medical Professionals - According to a recent medical survey, most HHT patients experience an average of 11-14 years of misdiagnosis by Emergency Room physicians and Otolaryngologists (ENT) due to a general lack of knowledge about the disease. Awareness can lead physicians to seek information and training on how to diagnose, treat, and manage HHT which will ultimately increase the number of medical professionals  who are knowledgeable about HHT and make it easier for patients to receive proper care.
3. Motivate the HHT Community -  We need HHT patients, physicians, and researchers to engage their families, local friends, Facebook friends, and co-workers in the fight to find a cure for HHT. The simplest thing you can do is send an email, which is already written for you, to your Congressional Representative. Although the Foundation has significantly advanced HHT in a variety of venues, we are only one voice - our message is so much stronger, louder, and impactingl when we all recite it together!

HHT

Since I am heading to an HHT center this week, I thought I would make a quick post about it. I get asked often about HHT, what it is, how if affects me, how it affected Sam and such. So...here is a SUPER BRIEF overview!!!


What is HHT?
A person with HHT has a tendency to form blood vessels that lack the capillaries between an artery and vein. The spot where the vein and artery are directly connected tends to be fragile and can rupture. Small vessel abnormalities are called telangiectasias. Large blood vessel abnormalities are called arterio venous malformations (AVM).

95% of people with HHT have telangiectasias in the skin of the hands, face and mouth. In my family this has resulted in frequent and severe nose bleeds. This seems to be one of the most frequent side effects of HHT. Luckily for me, my nosebleeds are never severe.


30% of people with HHT have one or more AVMS in their lungs. Both my father and I have PAVMs (pulmonary). The capillaries between a vein and an artery in the lung have function in addition to slowing down the blood in an artery before it enters the vein. These capillaries also act as a filter for impurities like air bubbles, bacteria and clots. The are supposed to purify the blood before it circulates to the brain. PAVMs above a certain size pose an increased risk for stroke or brain abscess.

But PAVMs are easily treatable. My father has had his treated once (if I remember correctly!) And I have had mine treated three times. To treat a PAVM, the irregular veins are plugged with metal coils. (called embolization) It is often an outpatient procedure.



HHT & Pregnancy
The majority of pregnancies are safe for a mother with HHT. Due to a 60% blood increase in pregnant women, fragile blood vessels (like AVMS) are more prone to burst. In most cases, if the PAVMs are treated, the mother is safe.


So this week I will get a brain MRI to check for AVMs in the brain, a chest CT to check for new or enlarged AVMS and a lung function test. I am praying all goes well!!! If the doctors see something they need to fix, I will have my veins embolized again. So please pray for good results!!!

And I will leave you with a few shots of the flowers on our deck!!! I love Spring!!!!