He was diagnosed with a rare genetic disease in high school. As a Pitt postdoc, he’s committed to finding answers.

When Anthony Anzell was a sophomore in high school, a terrible migraine came out of nowhere and lasted for several weeks. His only relief came from sleeping, which he was doing about 21 hours a day.

“I wasn't eating anything,” Anzell, now a postdoctoral fellow studying human genetics in Pitt’s School of Public Health, recalled of those days in 2007. “I lost somewhere around 40 pounds. Since I didn’t have much weight to lose, my parents were very, very concerned.”

Despite being told to wait it out by his doctors, Anzell’s strong-willed mother pushed for a diagnosis. When it came, they were astounded.

A CT scan revealed a fourth of Anzell’s brain was covered in abscesses, and he was diagnosed with a rare genetic disease called hereditary hemorrhagic telangiectasia (HHT). No one in his family knew what it was, let alone how to pronounce it.

They learned HHT causes abnormal connections between arteries and veins called arteriovenous malformations (AVMs), which most commonly affect the nose, lungs, brain and liver.

Anzell’s genetic test came back positive for a mutation in the endoglin gene, one of two primarily responsible for HHT. After undergoing three brain surgeries to remove built-up fluid as well as liver and lung surgeries to seal off two pulmonary AVMs, Anzell began to stabilize.

Inspired to raise awareness and funding for HHT, he turned to endurance sports: Anzell joined the crew team at Grand Valley State University in Grand Rapids, Michigan, as a collegiate rower and participated in 50-mile ultramarathons and ultra-triathlon competitions after college.

“I started to see my experience as an opportunity to devote my life to something,” he said. Before long, he had also completed a PhD in physiology at Wayne State University in Detroit.

After graduation, he sought out Beth Roman, a leading expert in HHT. The Pitt Public Health associate professor and vice chair of research studies the disease’s molecular and cellular mechanisms as basic research director for Pitt’s HHT Center.

As a postdoc in Roman’s lab, Anzell has immersed himself in research to understand more about the disease process of HHT, which he hopes will result in new therapies.

“For the last three and a half years [at Pitt], I've been living out my dream doing HHT research,” he says. “It’s been really amazing.”

His research received a boost recently with a Young Investigator Draft grant from Uplifting Athletes, an organization that uses the platform of college athletics to fund collaborative basic bench research on rare diseases. It’s perfect blend of Anzell’s passion for sports and rare disease research, and he is using the $20,000 award to continue his work to better understand how a cell’s structure, shape, size and arrangement changes with HHT.

“The science that we do on these rare diseases doesn’t just help those affected by them, it can apply to almost to any sort of physiology,” he said. “When we talk about how blood vessels form, that's a natural part of life. Understanding how and why things fail is just as important.”

A member of the board of directors for the nonprofit organization Cure HHT, Anzell wants people to know that between 50,000 and 100,000 Americans are affected by HHT and that the majority of cases go undiagnosed.

“I think the tough thing is that when you see me, you see a very healthy individual, somebody who's very active,” he said. “You don’t see that I have nose bleeds every day. I will obviously have to struggle with this disease for the rest of my life.”

Now a parent of young children, Anzell is thankful for the tenacity of his parents, which brings him to tears. He is also especially grateful that both his children have tested negative for an HHT genetic mutation.

“It started with me and ends with me,” he says. “I feel super blessed to have two really healthy kiddos.”

— Clare Collins, photography by John Altdorfer