PITTSBURGH (KFSN) --HHT is a genetic disorder of the blood vessels.
In severe cases, it can lead to sudden bleeding or stroke. Researchers say HHT affects more than one in 5,000 people, but 90 percent of all people with HHT don't know they have it. Now, new research may unlock the mystery behind the disease and give patients the best chance for treatment and a cure.
Thirty-one-year-old Lindsey Leskowak has a full house- four kids: Nora, age five, newborn baby Hattie, Thomas, age three and Charlotte who is two. Five months ago Charlotte began limping, then suddenly was unable to walk. Leskowak told Ivanhoe, "They told us that there was a very good chance she would never walk again."
Doctors found a venous malformation on Charlotte's spine and began to suspect the genetic disorder hereditary hemorrhagic telangiectasia or HHT. With HHT, weak connections between arteries and veins can cause uncontrollable bleeding. One of the tell-tale signs is frequent, severe nosebleeds. "I got them really bad in college, they had radiators there, and we always had forced air, and I just thought it was the radiators," Leskowak explained.
Visiting Associate Professor of Human Genetics and Developmental Biologist at the University of Pittsburgh Beth Roman is working to pinpoint the cause of HHT. Inside her genetics lab, Professor Roman is studying zebrafish, which develop their veins and arteries the same way mammals do.
She has identified abnormal cells in the lining of the blood vessels in HHT lesions; a first step toward developing a treatment. "I think this disease is often overlooked. And it is absolutely underdiagnosed," Professor Roman told Ivanhoe.
Professor Roman says for now, it's crucial to identify HHT patients and monitor critical areas in the lung, liver and brain. Leskowak said, "My infant is going for an MRI of her brain on Sunday because she's at highest risk for a brain aneurysm. And part of me thinks this is a nightmare. But the other part of me feels like maybe Charlotte might save somebody else's life."
The Leskowaks say they would not have known about HHT had Charlotte not become ill. The entire family has since had genetic testing. Lindsey recently learned she, her sister and her mother have the condition. Lindsey's baby, Hattie, may have a malformation in her brain. In the meantime, Charlotte has regained her ability to walk with a leg brace and continues with physical therapy.