Hereditary Hemorrhagic Telangiectasia - HHT Center of Excellence at UCLA скачать в хорошем качестве

Hereditary Hemorrhagic Telangiectasia - HHT Center of Excellence at UCLA

Ginger-haired and freckled, Cheyann Cooper looks like any active 11-year-old girl. She likes to fish with her dad, play sports at school, and, as the youngest girl in a blended family of five siblings, enjoys a close relationship with her mom. But Cheyann also endures daily nosebleeds so heavy that they drench her clothes in blood. They can last anywhere from a couple of minutes to an hour. Like her mother and older brother, she suffers from a genetic disorder called hereditary hemorrhagic telangiectasia, or HHT. Frequently misdiagnosed, HHT affects 1 in 5,000 people, and many people unknowingly pass the gene on to their children. "My uncle's cousin died from a brain hemorrhage. And that's how the family found out that we have HHT" explained Stacy Cooper, Cheyann's mother. "That's when we could finally put a name to it. I'm sure that's what my grandfather also died of. But at the time, they didn't know what it was." Due to this faulty gene, many of Cheyann's blood vessels connect abnormally. Her arterial blood surges directly into her veins without first squeezing through tiny capillaries, which normally reduce the high pressure of arterial blood flow. In Cheyann's older relatives who also have the disorder, fragile red dots called telangiectasias form on the face and fingertips, where they can rupture and spurt fountains of blood. Her own grandfather requires regular blood transfusions and iron supplements to combat the rapid blood loss, which can result in anemia, dizziness and fainting. The real danger for Cheyann lies in her larger abnormal blood vessels, called arteriovenous malformations (AVMs), which may lurk silently in her brain, lungs and liver. Invisible inside the body, AVMs can burst without warning, leading to massive internal bleeding, stroke, organ failure and death. Fortunately, medicine has made great strides in treating HHT. Recently, Cheyann and her mother drove from their home in Sonora, Calif., to see Dr. Justin McWilliams, co-director of UCLA's HHT Center for Excellence, where a multidisciplinary team of specialists trained in the genetic testing, diagnosis and clinical management of the disease can help her live a normal life. Cheyann underwent an MRI scan and ultrasound exam to uncover AVMs in her brain or lungs. The screenings will enable UCLA specialists to detect and treat any AVMs they find before the lesions rupture. "Unlike many genetic diseases, HHT's medical problems can be tested for and fixed," explained Dr. McWilliams. "Early screening and genetic testing are critical, because they can save lives and prevent serious complications before they arise." With help from the center's genetic counselor, Cheyann's mother will be able to identify other family members at risk and trace HHT through past generations. Interestingly, Cheyann's twin brother did not inherit the disease. "Many health providers are unfamiliar with HHT and often dismiss repeated nosebleeds as nothing to worry about," said genetic counselor Michelle Fox. "After one family member is diagnosed with HHT, a simple blood test enables us to identify the gene mutation and monitor other affected relatives without expensive imaging studies." Unfortunately, said Stacy Cooper, the frequent nosebleeds will continue for her daughter. "It's kind of embarrassing," Cheyann said, especially when they happen in school "because I get teased. They're always asking me,'Why do you always get bloody noses?' I can't really tell them" But knowing about the AVMs and whether or not they need to be treated makes a huge difference, said her mother. "We just want to make sure that wherever they are, we get treated. "It's nice to be able to say,'HHT' and have a doctor know what it is and understand what we're going through — and care," she said. Learn more at www.hht.ucla.edu