What the HHT?

A Voice for the HHT Community


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HHT Global Awareness Day

Today is June 23, 2017 and it’s HHT Global Awareness Day! As a person who has HHT disease and the author of a new book called Living with HHT, I’m excited to be part of this special day devoted to HHT awareness—and I hope my book will contribute to HHT awareness every day.  If you’re like most people, you’re probably asking, what in the world is HHT? That’s because most people, including most doctors, have never heard of HHT. In fact, most people who have HHT don’t know that they have it! Which is precisely why awareness is critical to identifying and treating people who have this uncommon, but not-so-rare disease.

So what is it? HHT (Hereditary Hemorrhagic Telangiectasia) is a genetic blood vessel disorder, affecting approximately 1 in 5000 people, or 1.4 million people worldwide. HHT occurs in all ethnic and racial groups, and affects both men and women. If someone has HHT, each of their children has a 50% chance of inheriting the disease, which is caused by a mutation in one of several genes involved in blood vessel development. HHT results in some malformed blood vessels in which there is a direct connection between an artery and a vein, and normal capillaries (the smallest blood vessels) are missing. These abnormal blood vessels (called telangiectasias or arteriovenous malformations (AVMs)) can occur in the nose, gastrointestinal tract (gut), on the skin, or in the lungs, brain, or liver.

Nosebleeds are the most common and visible symptom of HHT, affecting about 95% of people with the disorder. Bleeding from the nose or from the gut can cause iron deficiency and anemia, sometimes requiring blood transfusions. AVMs in the liver rarely cause problems, but in some people, result in liver or heart failure. AVMs in the lungs and brain are invisible and often cause no symptoms, but can lead to sudden, devastating medical events, including brain or lung hemorrhage (bleeding), stroke and brain abscess. People who don’t know they have HHT or have not been screened for AVMs are vulnerable to these tragic events. Yet with proper diagnosis and treatment, almost all of these medical events can be prevented. HHT awareness can prevent serious disability and even save peoples’ lives.

How I become AWARE of HHT: Although I’ve had daily nosebleeds for most of my life, I wasn’t diagnosed with HHT until my mid-30s, after becoming severely anemic from chronic blood loss. My doctor suspected HHT but knew little about it. But I called the HHT Foundation (now Cure HHT) and they referred me to the Yale HHT Center of Excellence (there are now 25 of these HHT specialty care centers in North America and more around the world) where my diagnosis was confirmed and I was treated for my lung AVM.  I was fortunate to get my diagnosis and get screened for AVMs (I had one in my lungs that needed treatment) before having any disabling medical events. Treatment for my lung AVM reduced my chance of a stroke, and iron pills improved my anemia and restored my energy. My mother, who was completely without symptoms at the time of my diagnosis, was screened for HHT because she had a few nosebleeds as a young adult, and the finding of small AVMs in her lungs confirmed her diagnosis. My children were also screened and one had laser treatment for nosebleeds. There is now a genetic test for HHT, making diagnosis much easier.

In 2002, when I attended my first HHT Foundation Patient and Family conference, I met other patients who were not as fortunate as I was; some had strokes or brain abscesses before they were diagnosed with HHT. After learning that many people with HHT around the world were suffering preventable medical complications due to lack of proper diagnosis, I was prompted to become a volunteer with the HHT Foundation. Over the past 15 years, I’ve participated in walks, runs, and other local fundraising and awareness events, co-led a regional support and education group for HHT patients, and been a legislative advocate during Capitol Hill Days. Currently, I’m a volunteer member of the Cure HHT Board of Directors.

Why I wrote a book about HHT: In my professional life as a rehabilitation psychologist, I’ve specialized in helping people live better lives with chronic illness and disability. I’ve co-authored several Johns Hopkins Press Health Books about the medical, emotional and social aspects of various disabilities.  I saw a unique opportunity to combine my professional expertise and my personal experience with HHT to help other patients. Several years ago, I began presenting lectures and small group discussions at HHT Patient and Family Conferences on the emotional and family impact of HHT. I also wrote some HHT fact sheets and created a webinar on managing the psychosocial aspects of HHT.

After years of interacting with people who have HHT,  I’ve learned that many patients—even after going to HHT conferences or specialized treatment centers—don’t fully understand what HHT is all about or how to take care of themselves and their families.  Families have a difficult time talking about HHT and understanding that if one person is diagnosed with HHT, multiple family members may be at risk. There’s a lot of denial and resistance to getting screened and treated, even in families who’ve already had tragic medical events. What’s more, the emotional effects of HHT, including sadness, anxiety, grief, stress and relationship problems have an impact on quality of life for most people with HHT, but there’s little professional guidance on how to manage them.

So I decided to write a book about HHT explaining the complex medical aspects of the disease in every day, non-medical language and addressing the emotional and family issues associated with HHT. The book is for people who have HHT (or think they might have it), for their families, and for health care providers who want to learn about HHT diagnosis, treatment and research.

I hope that Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, will raise your awareness about HHT. Perhaps it will help you identify a friend or coworker who has HHT. If you’ve been diagnosed with HHT, I hope the book will teach you everything you need to know to manage and cope with your disease, get proper treatment, care for your family and live the healthiest life possible.

Happy HHT Global Awareness Day!

For more information on HHT, visit www.curehht.org

 

Sara Palmer, PhD, is a psychologist and an assistant professor in the Department of Physical Medicine and Rehabilitation at Johns Hopkins University School of Medicine. She is the coauthor of Spinal Cord Injury: A Guide for LivingWhen Your Spouse Has a Stroke: Caring for Your Partner, Yourself, and Your Relationship; and Just One of the Kids: Raising a Resilient Family When One of Your Children Has a Physical Disability. Her latest book, Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, comes out this December.


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Eleanor goes to the dentist with her prophylactic antibiotics!

By Cassi Friday

Eleanor at DentistAs a child, I LOVED going to the dentist. I hope by starting Eleanor out young, I can instill an excitement about dental health in her to avoid any fears/anxieties about the dentist in the future.

Going to the dentist with HHT can add a bit of complexity. If you have or don’t know if you have pulmonary AVMs, you should always take an antibiotic before dental procedures. In this post, I’d like to talk about why this is very important, and how it can literally save your life!

The Pulmonary Arteriovenous Malformation (PAVM)

As a reminder, a PAVM is an abnormal connection between an artery and a vein. In normal instances, arteries connect to capillary beds and then connect to veins. The arteries carry oxygen-rich blood to organs and tissues through the capillaries. The low-oxygen blood then returns to the heart and lungs via veins. In the PAVM, the artery is connected to the vein, bypassing the capillaries. Continue reading


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It’s All About Balance

By Tania Competiello 

Tania Competiello ProfileThis month, I’m spreading positivity! Focusing on me, and you, and how we should be taking better care of our overall well-being. Remember, you may have HHT, but HHT does not have you – it does not define you and all you aspire to be!

I’ll be the first to admit some days are easier than others, some days are harder than others. Then there are the days that seem as if nothing is going right, everything is going wrong and you don’t feel like fighting HHT, not today. Yet, you get up, you fight, you push with everything you have, and you survive because you are an HHT warrior!

Ask yourself…

What have you done lately to take care of you? Are you sleeping enough? Are you trying to eat healthier? Are you doing your best to exercise your body and mind as often as possible? Are you doing the things that make you happy? Are you spending time with your family? Are you appreciating every sweet moment you have with your little ones? Continue reading


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Blissfully Ignorant or Hyper-aware?

By Cassi Friday

OstrichDoes anyone else teeter between these two states of mind? My husband and I often discuss which is better – As the person with HHT, he would rather be more on the blissfully ignorant side. His symptoms are not very severe (no AVMs we know of, but a lot of nosebleeds), and his family rarely discusses their medical issues, if at all. As long as he is managing his own condition, he doesn’t like to read or hear about case studies, other people’s ailments or think about what-ifs.

I, on the other hand, want to know it all! Whether it’s about HHT, which affects him and our daughter, or about something going on with me personally.

My husband is plagued by the “ostrich effect.” That is, he would rather bury his head in the sand and go on with things. Whereas I am plagued with worry and compulsive research. Continue reading


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One of the Many Faces of HHT

By Tania Competiello

Tania and Sister at Conference

Tania and her sister at the Masquerade Dinner of the HHT Patient Family Conference.

I’ve recommitted to writing my monthly blog with a focus on HHT awareness, being newly diagnosed with HHT and ultimately living with HHT.  This month, I wanted to focus on the many faces of HHT, starting with my own.

HHT does not discriminate against race, age, gender, weight, ethnicity, nationality or any other characteristic known to human kind. It is nothing short of a terrible rare disease, with no cure, genetically passed down from generation to generation, often unknown and undiagnosed, or spontaneously born into a new generation unaware of its existence.

It often takes an awful incident to bring awareness to a family…the loss of a loved one for example. My family falls within this category. October 2015 we lost our beautiful, vibrant, loving Aunt to HHT at the young age of 47. For her, her HHT diagnosis came too late and it eventually led to PH (Pulmonary Hypertension), and her passing. Continue reading


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Being Competitive & Knowing Your Limits

By Mariah Ray

Mariah Ray - track and fieldGrowing up, I was always in some sport. It began with t-ball, then transitioned into fast pitch softball where I was running back and forth from one field of play to another. In middle school, I had track right after school and then my mom would drive me to the next town over for softball practice. My summers were filled with camps for every sport imaginable and I almost never got a break.

That is how I wanted it though. I wanted to be out there with my teammates, striving to accomplish one common goal. Losing was always tough, but the feeling of not trying was even harder to grasp. For me, the ball was always in my court and if I wanted something bad enough, I was going to put in the work for it. This has gotten me to where I am today. Continue reading


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Little Eleanor’s First Center Visit

By Cassi Friday

Eleanor at WashU 2

Possibly the cutest person to ever wear a hospital gown.

Wow! What a week it has been! We just got back to Kansas from our trip to the Washington University HHT Center to have our daughter screened for cerebral AVMs.

A reminder for my friends and family who are reading along – an AVM is an arteriovenous malformation that can occur in the organs of patients who have HHT. These blood vessel malformations are susceptible to rupture, causing severe bleeding.

In this post, I will talk about how to initiate a pediatric screening, what happens along the way, what our experience was like experience, and highlight the HHT center for its excellent work.  Continue reading