HHT conference adds children-focused programming, study enrollment

Children are not usually the focus of medical conferences led by physicians using complicated words and medical lingo. But at an upcoming conference at Washington University School of Medicine, children who have a little-known disease will have their own programming filled with topics they can relate to.

The Hereditary Hemorrhagic Telangiectasia (HHT) Foundation’s 15th Annual Patient and Family conference will be held Oct. 22-24 at the Eric P. Newman Education Center. The event will bring together specialists to provide education and support for adult and pediatric patients with HHT and their families.

The Washington University HHT Center of Excellence is one of 10 such centers nationwide and specializes in treating HHT, a genetic disease that affects about one in 5,000 people in the United States, though about 90 percent of those who have it are undiagnosed. Also called Osler-Weber-Rendu syndrome, HHT is a genetic disorder of the blood vessels that affects males and females from all racial and ethnic groups. In HHT, the patient’s arteries connect directly to their veins, causing arteriovenous malformations (AVMs). These AVMs may be formed in the brain, intestines, lungs and liver, and may lead to seizures or hemorrhagic strokes, gastrointestinal bleeding, severe daily nosebleeds and small red spots on the face, hands or tongue. They may also cause fatigue, anemia and shortness of breath.

Patients undergo scans to detect these abnormal blood vessels in the chest, abdomen and brain. Physicians can treat some symptoms and also prevent future problems, but there is no cure for the disease.

Co-directed by Murali M. Chakinala, MD, associate professor of medicine in the Division of Pulmonary and Critical Care Medicine, and Andrew J. White, MD, associate professor of pediatrics in the Division of Pediatric Rheumatology, WUSTL’s HHT Center includes specialists in pulmonology, pediatrics, otolaryngology, radiology, neurosurgery, genetics, cardiology, gastroenterology and hematology. The specialists provide comprehensive, multidisciplinary care to patients with HHT from around the country. It is the only center with pediatric specialists to treat children with this disorder, making it a fitting host for the conference, which will include children’s programming for the first time.

“At the conference, we’ll showcase what we do differently and how we cater to children,” White says. “We’ll have some lectures aimed at parents and others aimed specifically at the children with HHT.”

In addition to participating in age-appropriate workshops, White says the children will participate in fun, hands-on activities that relate to their disease.

“We’ll let them touch and explore the catheters that go into their blood vessels and lungs, we’ll show them an MRI scanner, and we plan to have them try a treadmill to see what an exercise test is like,” he says. “We also want to have one of our ear, nose and throat physicians do a live, fiber-optic scope of the nasopharynx and show it on a TV screen so all of the kids can see inside someone’s nose. They’ll love that.”

Also at the conference, patients will have the opportunity to enroll in the National Brain AVM registry, the first-ever multi-center clinical research project for HHT. The study will screen patients, collect health information and take bodily samples, then follow the patients over five years looking at outcomes and the impact of brain AVMs.

“We are excited about being part of this first-ever endeavor in the U.S. for the HHT community and for playing an integral role in the registry at the conference,” Chakinala says.

In addition to the children’s activities and the study registry, Chakinala says this year’s conference is geared for the return visitor.

“We have added advanced topics to the curriculum and sessions that are more specialized or have a higher level of medical information for people who have some knowledge of HHT,” Chakinala says. “We want to provide medical content that would entice folks to come back to a conference for a second or third time.”

Nicole Schaefer, director of education and research programs with the HHT Foundation in Monkton, Md., said this conference may be the first time these children have met anyone outside of their family with HHT or talked to someone who understands what it’s like to have it.

“We want to educate kids on how to advocate for themselves since this is a lifetime disorder,” Schaefer says. “With the hands-on activities, we also want to take away the ‘scare factor’ of some of the tests and equipment so they will manage and be preventive about their disorder as they move into adulthood.”

Schaefer says she expects about 200 adults and more than 30 children to attend this year’s conference.

More than 50 workshops and presentations from leading adult and pediatric physicians and experts will be offered over the three-day conference. Topics include HHT diagnosis, treatment and management in children and adults; management of anemia; medical treatment and management of nosebleeds in adults and children; genetic and research advances; medical insurance issues; and emotional and psychological aspects of living with HHT.

“We want to empower people with knowledge about their disease,” Chakinala says. “This knowledge helps in managing the condition and understanding the things they need to live with this disease now and for the rest of their lives. It also helps for them to meet and network with other people who are affected with HHT. And through networking and education, we also help with the psychological aspects of having a genetic disease, which often goes unrecognized.”