HHT: A Whole System Disease
HHT is often introduced to the world through a single symptom — nosebleeds. But HHT is never only one thing. It is a whole system disease, one that touches organs, families, and futures.
More Than a Nosebleed
For decades, HHT was mischaracterized as a rare bleeding disorder, defined only by the recurrent nosebleeds that so many patients endure. But the truth is far broader, and far more urgent. HHT is a disease of the vasculature, affecting blood vessels throughout the body.
Telangiectasias on the skin and in the GI tract, arteriovenous malformations (AVMs) in the lungs, brain, and liver — these are not isolated features. They are a reflection of the systemic nature of HHT.
“People used to say, ‘Oh, you just have nosebleeds,’” recalls Angela, who has HHT. “But when I learned I also had AVMs in my lungs, everything about how I understood my body changed. It wasn’t just an inconvenience — it was a disease that could affect every part of me.”
To call HHT a “whole system disease” is to acknowledge that every organ is a potential site of involvement. It is to recognize that the heart, lungs, liver, and brain can be drawn into the story, sometimes silently, sometimes catastrophically. And it is to underscore the importance of a comprehensive approach to diagnosis, treatment, and long-term care.
The Diagnostic Odyssey
For many families, the journey begins long before the words Hereditary Hemorrhagic Telangiectasia are ever spoken. A child faints at school. A mother endures years of iron infusions without explanation. A grandparent is told their liver disease must be alcohol-related, despite no history of drinking.
On average, it takes nearly three decades from the onset of symptoms to reach a diagnosis. This odyssey extracts a toll — not just in medical outcomes, but in emotional resilience. Families find themselves navigating uncertainty, balancing hope against fatigue, and carrying the weight of knowing “something is wrong” without the relief of a name for it.
David remembers the decades before his diagnosis: “I thought I was just unlucky. I had nosebleeds, my daughter had them, my mom had them. Doctors treated us separately, but no one connected the dots. It wasn’t until my granddaughter needed blood transfusions at age eight that someone finally said, This could be genetic. That moment changed everything.”
Cure HHT has long recognized that closing this diagnostic gap is essential. By equipping physicians with education, expanding the network of HHT Centers of Excellence, and advocating for broader genetic testing, we are transforming the diagnostic journey from a decades-long maze into a clear, navigable pathway.
The Family Thread
HHT rarely affects just one person. It is hereditary, weaving itself through family trees, sometimes quietly, sometimes unmistakably. To live with HHT is often to live within a network of relatives — some symptomatic, others asymptomatic, many still undiagnosed. Others choose to avoid their diagnosis altogether.
This brings a unique dimension to the disease: the conversations around testing and screening children, the choices parents make about disclosure, the siblings who wonder what the gene means for them.
Leah, 29, shares: “My dad didn’t want to get tested, even after I was diagnosed. He said he didn’t want to ‘know too much.’ But I needed to know for myself, and for my future kids. It’s complicated, because it’s not just your health — it’s your family’s story too.”
And then there is aging. For older adults with HHT, the disease intersects with the vulnerabilities of later life: increased fragility, higher surgical risks, and the need for coordinated care across multiple specialties. The system-wide nature of HHT demands not just a pediatrician or a hematologist, but a team — and often, a family advocating persistently at their side.
The Social Side of Medicine
Medicine is never practiced in a vacuum. HHT patients navigate not just physical complications, but the social ripple effects of chronic disease. Children who miss sports tournaments for hospital visits. Teens who wonder how HHT will shape their futures. Adults who juggle work, family, and the unrelenting logistics of care.
Carlos says: “I just wanted to play soccer. But between nosebleeds and hospital trips, I missed half the season. My friends didn’t get it. They thought I was exaggerating. Sometimes I didn’t even know how to explain it.”
Even the most organized among us — with color-coded notes and bento-box precision — feel the strain of coordinating multiple specialists, insurance approvals, and urgent procedures. The weight of uncertainty presses hardest in moments that should be ordinary: school trips, career milestones, or family celebrations.
Cure HHT’s role is not only to advance medicine but to build a community that validates these experiences. Support groups, patient education, and advocacy work are as critical to well-being as clinical trials. By giving patients and families a platform to share their voices, we create a collective strength that carries individuals through the hardest moments.
An Ecosystem Approach
If HHT is a whole system disease, then the response must also be whole-system. No single researcher, physician, or family can carry the burden alone. What is required is an ecosystem — a network of clinicians, scientists, advocates, and patients working in concert.
Cure HHT has positioned itself as the hub of this ecosystem. We connect the dots: from patients to providers, from laboratories to living rooms, from government agencies to grassroots fundraisers. By aligning these moving parts, we accelerate progress that no one branch could achieve in isolation.
In research, this means driving discovery in vascular biology while ensuring findings translate quickly into therapies.
In care, it means supporting Centers of Excellence and expanding training so that every physician can recognize HHT, not just the specialists.
In advocacy, it means securing funding, shaping policy, and elevating the voices of patients until they can no longer be overlooked.
In community, it means standing with families through diagnosis, treatment, and the countless untold challenges of daily life.
The Path Forward
To live with HHT is to live with complexity — but also with extraordinary resilience. Each story in this community is a reminder that while the disease affects the whole system, it does not define the whole person.
Our mission at Cure HHT is to ensure that no one faces this journey alone. Through science, advocacy, and the power of community, we are working toward a future where HHT is diagnosed early, treated effectively, and ultimately cured.
Because when the whole system is engaged — science, medicine, policy, and people — the whole system can change.
Together, we’re building a future where HHT no longer stands in the way of life.
Valaree Machen
Sr. Marketing Manager
This letter is featured within the 2025 Fall Newsletter, now available digitally. Find important resources, announcements, programs, stories from staff, community updates, and more. Download your copy today.