Nov. 1, 2012 | In 1970 at age 7,Tina Johnston had surgery that took half her right lung due to chronic bronchitis, then endured shortness of breath for most of her lifetime before learning what was really wrong with her.

Michael Beheshti , M.D., an interventional radiologist, sat down with Johnston and her husband and sister for a consultation in 1998 to explain to them  what was causing Johnston’s pulmonary troubles —hereditary hemorrhagic telangiectasia (HHT).

After Beheshti later joined the University of Arkansas for Medical Sciences and became co-director of its HHT Center, Johnston as a patient followed him to UAMS. She said it’s good to find a place where all the staff and physicians understand HHT and what living with it is like, saving the need for explanation.

HHT is a genetic condition that causes abnormal blood vessel formation in the skin, mucous membranes or organs such as the lungs, liver or brain. The disorder can cause nosebleeds, internal bleeding and other problems depending on the location of the abnormal blood vessel formation.

“When Dr. Beheshti explained everything to us, my sister and I started crying,” Johnston said. “He said, ‘I’m sorry. I didn’t mean to upset you with all this.’ He didn’t realize at that time that my Mom had passed away the week before. He described her life to a ‘T.’ My mother was diagnosed with another syndrome, and we think my grandmother had it but was never diagnosed. If he had known my mother, she might have still been here today.”

Once Johnston’s problem finally was understood, Beheshti began treating her by shutting off oversized arteries that did not properly oxygenate her blood. Shutting off those allows the blood to flow to smaller blood vessels and better get to where it needs to go. In 1998, her blood oxygen level was at about 60 percent of where it needed to be.

Johnston said her treatment for HHT at first required frequent visits, but once enough of the malformations were dealt with, she only has needed to check in with Beheshti every year or two if things are going well.

Things have been going well for the HHT team at UAMS. The Hereditary Hemorrhagic Telangiectasia Foundation International recently designated UAMS the 13^th HHT Center of Excellence in North America. UAMS was credited for assembling a team of specialists knowledgeable in the care and treatment of HHT. It includes specialists in cardiology, dermatology, gastroenterology, hematology, medical genetics, neurology, otolaryngology and pulmonology. 

“The HHT Foundation is thrilled to be partnering with UAMS as its newest North American Center of Excellence,” said Marianne Clancy, executive director of the HHT Foundation International. “HHT patients and their families in Arkansas and surrounding states are very fortunate to have such a wonderful group of specialists in their backyard.”

Johnston said she feels awareness of HHT among medical professionals in general is increasing. When she was a child, it was so little understood that a malformation in her right lung was thought to be an AV fistula and half her lung was removed. An HHT-related Transient Ischemic Attack (TIA) stroke she had in the 1990s was at first diagnosed as a neurological migraine.

“HHT is poorly understood and largely unappreciated by much of the medical community and unfortunately, it is a silent killer,” said Beheshti, an associate professor in the UAMS College of Medicine. “Left untreated, the malformations in the lungs can lead to strokes or brain abscesses in young patients, and malformations in the brain can lead to fatal bleeding.”

Often the nosebleeds are just a warning for more severe problems to come. “We have effective treatment today for these issues, but what is even more important is to find family members who have these malformations and don’t know it,” Beheshti said.

Whenever she can, Johnston tries to raise awareness of HHT and educate people about its health risks.

“A friend of mine’s secretary had some of the symptoms of HHT,” she said. “I told her to go see Dr. Beheshti. I said, ‘I’ll bet you a million dollars she has it.’ She not only had it, he confirmed that, but she had it just the same way I do. It was unusual, but I’m glad I knew to tell her to go. He was thankful I’d sent her to him.”

Although with treatment Johnston’s blood oxygen level is higher than it was in 1998, it isn’t likely to ever be 100 percent. She still experiences some shortness of breath that limits her physical activity. Johnston is grateful that her children haven’t shown any signs of having HHT and that she found a physician who understands the disorder.

“You have an amazing doctor at UAMS in Dr. Beheshti,” she said. “He’s my angel and I thank God every day that He brought Dr. Beheshti into my life to take care of me and my HHT.”