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Pitt, UPMC facility cited as center of excellence in bid to cure HHT

Ben Schmitt
| Tuesday, Sept. 1, 2015, 11:26 p.m.
Lindsey Leskowak, 30, with her daughter, Charlotte, 2, in their Reserve Township home on Monday, Aug. 31, 2015. Charlotte was diagnosed with hereditary hemorrhagic telangiectasia (HHT), a rare genetic disorder that can cause sudden, catastrophic internal bleeding and stroke.
Jasmine Goldband | Trib Total Media
Lindsey Leskowak, 30, with her daughter, Charlotte, 2, in their Reserve Township home on Monday, Aug. 31, 2015. Charlotte was diagnosed with hereditary hemorrhagic telangiectasia (HHT), a rare genetic disorder that can cause sudden, catastrophic internal bleeding and stroke.

Two-year-old Charlotte Leskowak tumbles about in her Reserve home, running and turning half somersaults on the living room carpet with a lively laugh.

She's come a long way from Mother's Day when she mysteriously lost reflexes in her legs and stopped walking.

“It was pretty terrifying,” recalled her mother, Lindsey Leskowak. “We originally thought it was behavioral; I never could have imagined it would turn out to be something worse.”

Doctors at Children's Hospital of Pittsburgh diagnosed Charlotte with a rare and sometimes deadly genetic disorder known as hereditary hemorrhagic telangiectasia, or HHT. The condition, which affects 1 in 5,000 people, is characterized by abnormal blood vessels that can lead to catastrophic internal bleeding and stroke.

Lindsey Leskowak said living in Pittsburgh near doctors with expertise in managing HHT played a huge role in Charlotte's recovery. On Wednesday, an international advocacy and support group called Cure HHT designated the Pitt/UPMC site as a center of excellence. It's the 18th center in the United States to receive the designation.

Beth Roman, the center's research director and a visiting professor of human genetics at Pitt Public Health, uses zebrafish in her lab as she searches for a cure because they are transparent and contain blood vessels that are similar to humans.

“What's really puzzling about this disease is it has a wide range of expressivity, meaning that two people in the same family could have the same gene mutation but completely different clinical presentations of HHT,” she said.

The most common symptom of HHT is frequent nosebleeds. It causes complications in the brain, liver, digestive tract, spine and lungs. There is no cure, and doctors are working to develop treatment drugs.

In Charlotte's case, she suffered from an abnormal connection of blood vessels that began bleeding at the base of her spine, which is one of the rarest forms. She lost feeling in both legs and subsequent swelling blocked her bowels and bladder.

After testing and imaging, doctors found the bleeding site and stopped it through a surgical process known as embolization, using a form of glue to clog the artery.

“She started kicking her legs almost immediately after the procedure,” Leskowak said. “Three to four weeks later, she started using a walker to get around and then independently began walking.”

Because HHT is genetic, Leskowak, 30, underwent testing that determined she had the disorder. All of a sudden, the frequent nosebleeds she suffered as a teen made sense. Her other three children are awaiting test results, and her mother was recently diagnosed. A child of a parent with HHT has a 50 percent chance of inheriting the gene that causes HHT, experts said.

Dr. Christopher Faber, director of outpatient services at UPMC's Comprehensive Lung Center and co-director of the HHT Center, said people with frequent nosebleeds or small red to purplish spots on hands, face and mouth should seek medical evaluation.

“Early diagnosis of the critical malformations allows intervention before they go on to cause disabling complications,” he said. “That's why awareness is so crucial.”

Ben Schmitt is a staff writer for Trib Total Media. He can be reached at 412-320-7991 or bschmitt@tribweb.com.

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