Beyond: Looking at the Diverse Faces of HHT

Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder that, despite being present from birth, often goes undiagnosed for many years. A common scenario involves a family member receiving a diagnosis, which then prompts others to seek testing. Even without genetic confirmation, a clinical diagnosis can be made based on characteristic symptoms.

The variability in how HHT presents, even within the same family, is a critical aspect of the disease. Siblings inheriting HHT from the same parents can exhibit vastly different symptoms and severity. For example, one individual might experience frequent and severe nosebleeds, sometimes daily and leading to hemorrhages, while another sibling may have more internal bleeding, potentially leading to more severe complications like congestive heart issues at a younger age. This highlights the unpredictable nature of HHT and the importance of individualized treatment approaches.

Our Beyond the Visible campaign characters Noah and Paige are a set of twins that lead similar lives – apart from their HHT diagnosis. While Paige shares the same red spots and nosebleeds as their dad, Noah lacks a genetic marker altogether for the disease. Paige’s spring vacation is spent in an HHT Center of Excellence bed. Noah’s is spent by her side.

And while Noah and Paige are fictional, stories like theirs are all too real.

Donna, a 69-year-old woman with HHT, recently shared how her and her siblings handle HHT:

“Though I’ve had this disease all my life, I was about 35 years old when I finally realized it. My mother was diagnosed first, and soon afterward I had a transient ischemic attack. I saw her ENT and he was able to confirm without a genetic test that I had HHT as well.

I have two brothers, one who presents and was screened for the disease and one who does not present, but was never tested. My brother and I show very different symptoms, and even though he is 12 years my junior he already has many more issues than I do. I experience frequent nosebleeds — as often as daily, and some that are considered hemorrhages — while my brother bleeds more internally.”

Access to specialized care is crucial for managing HHT. Patients often seek treatment from experts in centers dedicated to HHT. Current treatments, such as Avastin, can be effective in managing symptoms like heavy bleeding and improving hemoglobin levels. However, not all treatments work for everyone, and some patients may need to explore multiple options, including clinical trials, to find what works best for them. The ongoing pursuit of effective treatments offers hope for improved outcomes for all individuals living with HHT.

Cure HHT is on a mission to improve the quality of lives of those affected by HHT. With the generosity of our community, we are driving medical research for treating Hereditary Hemorrhagic Telangiectasia forward at a rate faster than any time before.

You can make a difference this June, HHT Awareness Month, by giving to our campaign Beyond the Visible. Each donation made up to the first $100,000 will be matched!

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