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 Living; When 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.