Dr. Jamie McDonald, a genetic counselor and co-director of the center, explains how the center brings together nine departments and disciplines with modern research and extensive experience to help HHT patients from all over the world.">

May 18, 2016 — Hereditary hemorrhagic telangiectasia (HHT) is a complicated and dynamic genetic disorder that severely impacts multiple systems in the body. Its effects can vary drastically from person to person and complications from this blood-vessel disorder can be life-threatening. The HHT Center of Excellence at the University of Utah aims to provide comprehensive care for patients and families in need of treatment. Dr. Jamie McDonald, a genetic counselor and co-director of the center, explains how the center brings together nine departments and disciplines with modern research and extensive experience to help HHT patients from all over the world.

Interview

Interviewer: Understanding what the HHT Center of Excellence at University of Utah Healthcare does and how it helps, next on The Scope.

Announcer: Health tips, medical news, research and more for a happier, healthier life. From University of Utah Health Sciences, this is The Scope.

Interviewer: The condition called HHT is a complicated and very dynamic genetic disorder and the symptoms and organs affected and the treatments, all of that can vary from person to person. So as a result, it really requires a team of specialists to successfully diagnose and treat it.

Jamie McDonald is a Licensed Genetic Counselor and Co-Director of the HHT Center of Excellence at University of Utah Healthcare. I want to find out more about this clinic and what it can offer to somebody who has found out that they do have HHT. So first of all, I think I've made the case why a clinic like this, but I'm going to ask you anyway, why a clinic like this?

Jamie: I think there are two reasons for this particular genetic disorder. One's specialization is required because the disorder is so rare, most physicians just can't see enough of it to understand it well enough to give good advice or treatment to patients.

I think the second thing is, patients need to be seen in a tertiary care center, major medical center where physician specialists from multiple departments can be brought together as a team to treat patients for disorders such as this that affects multiple organs.

We have physicians and clinicians involved from nine different departments and divisions that are physicians that treat the nose, the brain, the liver, the intestinal tracts, all the various organs and systems that are affected with the disorder, and we aren't doing patients justice if they show up and we treat their nose bleeds but we send them home to dive a pulmonary hemorrhage the next year because we didn't think about that part of the disorder while they were in front of us.

So we see ourselves as a specialty clinic focused on this rare disease that gives us expertise but also very importantly, a multidisciplinary team that works together to treat the whole patient.

Interviewer: And often times you get people that travel from long distances to come to this clinic because there just aren't that many of them.

Jamie: There aren't. They are getting to be more over the 20 years that we have existed. Twenty years ago when we set up shop we were one of two HHT specialty clinics in the country. Now in the US, we're at 15 or 16. So people have an increasing number of places they can go but it still means that most patients are needing to travel out of state to a medical center that has a team such as ours, focused on their rare disorder.

Interviewer: And when they come into the clinic what sorts of things can I expect to happen?

Jamie: Well one thing you can expect is we will have spent the time to gather enough information before you walk in the front door of our medical center, such that we will have a number of things lined up for you, and the things we have lined up for you may not be the same things we have lined up for your sister.

So we're going to have taken enough history from you by phone before you arrive to know how bad your nose bleeds are, have you had any history of stroke as HHT patients can, have you had any previous imaging of the inside organs that are recommended for this disorder? So we will have you setup for whatever preventive surveillance you need in the way of imaging tests and whatever treatments you need, based on our pre-clinic over the phone assessment.

Since 90% of patients we see are coming to us from out of state, we try very, very hard to make this a one-stop shopping, we know what we need to be before you walk in the door sort of experience.

Interviewer: Yeah and have all those experts that you can just have appointment after appointment and after appointment so you can just get it tested and figured out and so when you come in, you just have the appointments that you need with the people that you need so you can get the diagnosis and start to get the treatments that you need.

In a lot of instances, one of the things that makes HHT dangerous is the time bombs, those things that are going on inside of us we don't realize it could cause something really bad. How do you figure out what a person's time bombs are?

Jamie: We know we need to figure them out by looking for them in each and every person. So one of the understandable but dangerous mistakes of people in HHT families make themselves and their doctors that are caring for them is, they assume that oh, my nose bleeds aren't so bad so I must have a mild form of HHT. I'm not going to worry about my brain, my lungs, my liver.

And we've learned the hard way that is a scary approach because the answer to your question is we don't know until we actually do that brain MRI on a 5-year-old with HHT or a 50-year-old with HHT because they didn't get to us. Until then we don't know whether they have an AVM or not.

Interviewer: But all the stuff could be tested for.

Jamie: All the stuff can be tested, yeah.

Interviewer: Through imaging or whatever, what have you, yeah.

Jamie: Exactly. So all the stuff can be tested for we have very specific ways, mostly involving imaging that we, and some laboratory tests too, but looking for the various features of HHT that might lay hidden.

Interviewer: When it comes to treatment, can it be cured or can you just manage the symptoms?

Jamie: There really is not a basic cure where we can stop these abnormal blood vessels from forming in babies or even adults, as they increasingly form a few more over a lifetime, so we don't have the cure at that level but we're very, very good at this point at treating the AVMs that develop that are dangerous.

As an example, we don't go treating every little red spot up inside the nose of somebody with HHT if that red spot isn't bleeding profusely and bothering them. But we would treat any brain AVM we find of any size knowing that it could rupture without warning. So most AVMs detected in the brain or the lung for example, are very safely treatable and we treat them regularly in patients of all sizes and ages.

Interviewer: Does a patient have to come back multiple times after the treatments are done, just for monitoring or is that something they could do with their own hospital at that point?

Jamie: It's a combination. After we see a patient for an initial visit and put them through the screening protocol and treat whatever needs to be treated at that particular stage of their life, we generally don't need to see them for another five years. There's some monitoring by lab work mostly that we coordinate there with their primary care physician to do, and then see them at five year intervals to repeat some of the screening that is hard to do outside of an HHT center.

Interviewer: Is there something I forgot to ask you about the center, like a common question you get from people?

Jamie: Physicians and families, in which HHT has already been diagnosed, shouldn't look to nose bleeds as an indication of whether that person needs further evaluation with regards to HHT. We have proven in study done here at our center that there's absolutely no correlation between the severity of nose bleeds in an HHT patient and the chance they're going to have one of these internal time bombs. So I want physicians and families that have this diagnosed in a given family to be aware of that.

Interviewer: And then be sure to seek out a specialty center such as here at University of Utah. Can people reach out to you directly or do they need to be referred by their primary care physician?

Jamie: They can reach out to us directly and then we work with primary care physician and an insurance to get referrals and authorizations in line, as needed.

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