The nosebleeds started in elementary school for Bernadette Guthrie as she furtively dabbed her nose with a tissue lest any classmate notice.
“You certainly didn’t want anyone to know you had a problem,” said Guthrie, now 74.
The bleeds came every couple of weeks, out of the blue. At first, they were just a nuisance stanched in a few minutes with a single tissue. But as the girl became an adult, a few tiny drops of blood became a hemorrhage, a lone tissue became a box, a few minutes became an hour.
Guthrie inherited a rare disease called hereditary hemorrhagic telangiectasia, or HHT, in which the vessels connecting veins and arteries do not develop normally. It can cause bleeding throughout the body, with serious complications if it occurs in the lungs, brain or other organs. Nosebleeds like Guthrie’s are usually a first, ominous sign of HHT and more serious problems to come.
The disease led Guthrie to the University of Florida Health more than a half-century later.
The Cure HHT foundation this month designated UF Health as Florida’s first HHT Center of Excellence and one of just 31 centers in North America, marking the health system as a top-tier provider of HHT treatment and research.
Until now, the closest HHT Center of Excellence was in Augusta, Georgia, where about 200 Floridians currently receive care, UF Health doctors said.
“We’re tremendously honored that Cure HHT recognizes UF Health as a place Floridians with HHT can get the best care possible closer to their homes and families,” said Dr. Ali Ataya, co-director of the UF Health HHT Center of Excellence in the UF College of Medicine’s division of pulmonary, critical care and sleep medicine.
For patients like Guthrie, a Gainesville resident and retired schoolteacher, access to expert care close to home has allowed her to manage a disease while minimizing the disruption of her life.
In recent years, Guthrie has been hospitalized at UF Health Shands with bleeds in her stomach that have been so severe she has required blood transfusions. HHT causes malformations in the connections between veins and arteries that can grow larger and ultimately rupture.
Guthrie also has the malformations in her lungs and liver, though they have not yet led to serious bleeding.
“HHT affects every part of my body, and my UF Health doctors are really in tune to my specific case,” she said. “It takes a lot of specialists to manage the disease. My team is just great. They’re right on target in knowing the latest techniques and research to control HHT. They’re so good.”
HHT, also known as Osler-Weber-Rendu disease, affects an estimated 1-in-5,000 people, about 90% of whom are undiagnosed, according to Cure HHT. Patients are often frustrated as they try to find answers to puzzling symptoms that might even stump their family physician.
“It’s a rare enough disease that a lot of medical providers aren’t super familiar with it,” said Dr. Jeb Justice, co-director of the UF Health HHT Center of Excellence in the UF College of Medicine’s department of otolaryngology. “It can be somewhere between frustrating and scary as a patient sees a caregiver who has either never heard of or doesn’t know how to treat the disease.”
Cure HHT, based in Maryland, is the only worldwide advocacy and support group for people with HHT and requires its Centers of Excellence to meet criteria that include having sufficient personnel with the expertise to treat HHT patients.
Centers are expected to engage in HHT research, including clinical trials to evaluate new therapies.
“We are thrilled that HHT multidisciplinary care will now be a reality in Florida and the surrounding areas,” said Cure HHT executive director Marianne Clancy. “We are excited about this new collaboration, as a center in Florida has been long needed.”
The number of specialties required to treat an HHT patient is staggering, often well beyond the abilities of a smaller hospital or health system. They include pulmonology, neurology, otolaryngology, interventional radiology, hepatology, cardiology, genetic counselors and hematology.
Ataya said the hope is that having an HHT Center of Excellence in Florida will make physicians more aware of the disease and that there is a place their patients can receive expert care and an early diagnosis.
HHT ran in Guthrie’s family on her mother’s side. That is usually the case, as the defective gene is passed from parent to child. Each child has a 50% chance of inheriting HHT, a flip of a coin.
Guthrie has been able to live a normal life, and Ataya said many other HHT patients can, as well. But complications often abound.
Well the UF in Jacksonville may need some serious changes. I have sickle cell disease and a nurse cursed me out in front of another nurse. I turned it in and nothing happened. Another physician watched me have a seizure and did absolutely nothing to help me.
I’ve turned in so many incidents where I was mistreated and even others who were to patient relations and nothing was ever done.