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Jennifer Cook has dealt with migraine headaches and nosebleeds since she was in junior high school, but it wasnt until much later in life, after two small strokes in her 40s, that she discovered these seemingly disconnected ailments including strange, little red dots on her hands and face were all symptoms of a genetic disorder running rampant through three generations of her family.

We all started to connect the dots, said Cook, 48, of Sacramento, referring to about a decade ago, when her father was the first in the family diagnosed with hereditary hemorrhagic telangiectasia, or HHT, a little-known disorder causing malformed blood vessels that can affect the skin and other organs. Since then, her aunt, sister, two of her brothers and two of her daughters also have been diagnosed.

It was so shocking to find out, said her daughter Nina Murphy-Cook, 23, also of Sacramento, who was diagnosed four years ago. Bloody noses, headaches and strokes in really young people. Literally, we had no idea. We all got those little red spots on the skin. My mom just called them Irish moles and said it was just something our family gets.

Cook and her daughter, now patients at Stanford Health Cares recently designatedHHT Center of Excellence, are under the care of a multidisciplinary team of specialists that includes interventional radiologists, neurosurgeons, pulmonologists, otolaryngologists, hematologists, gastroenterologists and a genetic counselor. The team members diagnose, prevent and, if necessary, treat the disparate problems that can result from this often undiagnosed and misdiagnosed disease.

If people get diagnosed and treated, they can have a normal life expectancy with this disease, said Edda Spiekerkoetter, MD, associate professor of pulmonary and critical care medicine and director of the Stanford HHT center. Otherwise, theyre susceptible to chronic, dangerous illnesses without even knowing there are treatments that can prevent them from happening. Key to solving this problem is better educating the public, including doctors, on how to recognize the symptoms. Shes educating primary care physicians, otolaryngologists and dentists, in particular, to serve as frontline screeners: They can keep an eye out for the hallmark red dots, called teleangiectasia, in the oral cavity and on lips and ask about nosebleeds, which are extremely common in patients.

HHTcauses abnormal connections, called arteriovenous malformations, to develop between arteries and veins. They can cause all sorts of problems. These deformed vessels growmost commonly in the nose, lungs, brain, gut and liver andcan cause brain bleeds, nosebleeds, strokes, gastrointestinal bleeding and heart failure. Themalformationsgrow in place of smaller vessels called capillaries, which normally connect arteries and veins. Capillaries are responsible for oxygen uptake into the blood and filter small particles circulating in the blood. Bypassing the capillary bed, these larger, malformed vessels allow small blood clots, bacteria and air bubbles to circulate throughout the body unfiltered. This can lead to strokes or a reduction of oxygen in the blood, which can lead to shortness of breath and exhaustion.

To prevent complications from these deformed vessels in the lungs, you need an interventional radiologist to step in; to prevent brain bleeds, you need a neurosurgeon;abdominal bleeds and anemia can be controlled by a gastroenterologist and hematologist; andotolaryngologists can help prevent severe nosebleeds, Spiekerkoetter said. While HHT is rare affecting an estimated 1 in 5,000 people 90% of cases go undiagnosed, Spiekerkoetter said. Patients often dont get diagnosed until after a serious event, such as a stroke.

Read more from the original source:
Patients turn to Stanford's center of excellence for treatment of hereditary hemorrhagic telangiectasia - Stanford Medical Center Report

This entry was posted on March 10, 2020 at 7:45 pm and is filed under Genetic medicine. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |