When a Nosebleed Isn't Just a Nosebleed

Most of the time, nosebleeds are harmless, but when they run in the family, recur frequently, or are accompanied by tiny red spots on the skin, they may indicate a rare, genetic condition called hereditary hemorrhagic telangiectasia (HHT). Because HHT is rare and nosebleeds are common, the disorder often goes undiagnosed until complications occur.

"Ninety percent of patients with HHT don't know they have HHT," says Vladimir Sheynzon, MD, associate professor of radiology at Columbia University Irving Medical Center (CUIMC) and co-director of Columbia's HHT Center For Excellence, "so for many patients, the entry point to our center is when they reach their forties, and they have some sort of bad event."

That bad event—which can be anything from a stroke to gastrointestinal bleeding to a brain abscess—is due to a malformation of the blood vessels in people with HHT. Early diagnosis and monitoring prevent bad outcomes, says Sheynzon, but the challenge is that many primary care physicians simply aren't aware of the disease.

"I see patients who have had nosebleeds their entire life, and they also run in the family," says Charles Murphy, MD, assistant professor of medicine at CUIMC, who joined the center as co-director in 2022. "Sometimes there's also a family history of strokes, and no one connected the two."

HHT Explained

Normally, a bed of tiny blood vessels called capillaries connect the arteries to the veins. Capillaries serve to transport nutrients to the cells as blood moves from an artery to a vein; they also filter out bacteria and other tiny particles. People with HHT lack capillaries in certain key locations, causing blood to flow directly from the artery into the vein. This creates a fragile site—called an arteriovenous malformation (AVM)—that may bleed or lead to a host of other problems.

In people with HHT, AVMs occur most commonly in the lungs, brain, gastrointestinal tract, and liver. Without monitoring and treatment, they can grow, rupture, and cause chronic problems like pulmonary hypertension and anemia, or more serious complications like heart failure and strokes.

Another early symptom of HHT that often goes unnoticed is the presence of small, widened blood vessels called telangiectasias. These appear as tiny red spots, usually in or around the mouth, nose, fingers, and face. Most HHT patients have telangiectasias somewhere on their body.

The most common sign of HHT—frequent and sometimes heavy nosebleeds related to telangiectasis in the nose—often shows up when patients are young, at around age 12. But because nosebleeds are so common among children, Sheynzon says, pediatricians often don't ask important questions, such as whether other family members also suffer from nosebleeds. "They might advise the family to use a humidifier," he explains.

AVMs, telangiectasias, and their effects are passed down in families; parents with HHT have a 50 percent chance of passing the condition on to their children. The disorder is unique among genetic diseases in that it hits every race and ethnicity equally.

Treatment at the HHT Center

All adult patients who come to Columbia's HHT Center start with an appointment with Murphy, a pulmonologist, who screens them for the genetic mutation that causes HHT and the anemia and AVMs that come with it. "I view myself as their HHT primary care doctor," Murphy says, explaining that part of his role is to coordinate their care. "I make sure that they do their regular screening for AVMs, that they're doing basic nosebleed prevention, and that they're linked in with all the specialists that they need."

Andrei Constantinescu, MD, assistant professor of pediatrics at CUIMC and a pediatric HHT specialist, serves a similar role for children under the age of 18, who eventually transition to Murphy's care.

Typically, HHT patients see more than one specialist with experience treating the disorder. A HHT specialized ENT physician monitors and treats the nosebleeds. Patients who have had strokes are connected with a neurologist. Patients with anemia are referred to a hematologist. When AVMs in the lung require treatment, Sheynzon or one of his interventional radiology colleagues steps in. When the AVMs are identified in the brain, treatment requires a neurointerventional radiologist or neurosurgeon. Genetic counseling is also provided for patients, their family members, and those who are pregnant, seeking fertility treatment, or considering pregnancy.

Improving Outcomes for HHT Patients

Outreach and education are central to the HHT Center's mission, says Sheynzon, so that more patients get diagnosed before serious complications occur. Equally important is finding better treatments, adds Murphy, an effort he compares to the path to finding treatments for another genetic disease, cystic fibrosis. "Thirty years ago, cystic fibrosis was a genetic disease with no treatments, and life expectancy was very poor," he explains. "The Cystic Fibrosis Foundation spearheaded clinical trials around the world, which led to genetic therapies that are essentially cures."

"The goal is that we'd have a similar trajectory with HHT, and it's exciting to be a part of that."

Columbia's center—one of the largest in the country—was the recipient of a portion of a two-million-dollar federal grant that the Cure HHT Foundation received in 2022 to improve and expand access to care for HHT patients. The grant has supported multiple projects, including Columbia’s participation in a multicenter population research project, called the Comprehensive HHT Outcomes Registry of the United States (CHORUS). Through the registry, participating investigators are collecting long-term information about people with HHT to better understand the disease and its impact on people's lives, and how it changes over time. The registry will also serve as a centralized resource for future clinical trials and research. Ultimately, the goal is to help improve treatments for the disease.

"It's a collective effort to push forward to find true cures for the disease and develop treatments and therapies," Murphy says.