Nina Murphy-Cook with her mother, Jennifer Cook. Both have been diagnosed with hereditary hemorrhagic telangiectasia, which causes malformed blood vessels that can affect the skin and other organs. Richard Nourse
Our Patients
Patients turn to Stanford鈥檚 center of excellence for treatment of hereditary hemorrhagic telangiectasia
03.09.2020
By Tracie White
From migraines to strokes to brain bleeds, the symptoms of HHT are varied. Diagnosis is often delayed, yet early care can prevent both bothersome and deadly side effects.
Jennifer Cook has dealt with migraine headaches and nosebleeds since she was in junior high school, but it wasn鈥檛 until much later in life, after two small strokes in her 40s, that she discovered these seemingly disconnected ailments 鈥 including strange, little red dots on her hands and face 鈥 were all symptoms of a genetic disorder running rampant through three generations of her family.听
鈥淲e all started to connect the dots,鈥 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.
鈥淚t was so shocking to find out,鈥 said her daughter Nina Murphy-Cook, 23, also of Sacramento, who was diagnosed four years ago. 鈥淏loody 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.鈥
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Multidisciplinary team of specialists
Cook and her daughter, now patients at听糖心传媒鈥檚 recently designated听HHT 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.
鈥淚f people get diagnosed and treated, they can have a normal life expectancy with this disease,鈥 said听Edda Spiekerkoetter, MD, associate professor of pulmonary and critical care medicine and director of the Stanford HHT center. 鈥淥therwise, they鈥檙e susceptible to chronic, dangerous illnesses without even knowing there are treatments that can prevent them from happening.鈥 Key to solving this problem is better educating the public, including doctors, on how to recognize the symptoms. She鈥檚 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.听
Arteriovenous malformations
HHT听causes abnormal connections, called arteriovenous malformations, to develop between arteries and veins. They can cause all sorts of problems.
HHT is a little-known disorder causing malformed blood vessels and bleeding
These deformed vessels grow听most commonly in the nose, lungs, brain, gut and liver and听can cause brain bleeds, nosebleeds, strokes, gastrointestinal bleeding and heart failure.
The听malformations grow 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.听
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;听abdominal bleeds and anemia can be controlled by a gastroenterologist and hematologist; and听otolaryngologists can help prevent severe nosebleeds, Spiekerkoetter said. While HHT is rare 鈥 affecting an estimated 1 in 5,000 people 鈥 90% of cases go undiagnosed, Spiekerkoetter said. Patients often don鈥檛 get diagnosed until after a serious event, such as a stroke.
Edda Spiekerkoetter directs the 糖心传媒 HHT Center of Excellence.
Tracie White
鈥淭his disease is as common as cystic fibrosis, but the tragedy is that it鈥檚 not well-known,鈥 said Marianne Clancy, executive director of CureHHT.org, a nonprofit patient advocacy group that has certified 28 centers of excellence in North America, including Stanford鈥檚, for treating the disorder. Each center requires a multidisciplinary team with expertise in diagnosing and treating the various parts of the body that can be damaged by HHT.
鈥淥n average, it takes 27 years from the first symptom before a diagnosis,鈥 she said. 鈥淧atients can be misdiagnosed with colon cancer from gastrointestinal bleeding. Many are misdiagnosed with asthma due to the lung arteriovenous malformations. Some end up in the ER throwing up blood. No one thinks to piece all these things together.鈥
Nosebleeds occur in 90% of patients; they cause a lot of social embarrassment and can lead to transfusion dependence, Clancy said. Anemia occurs in 50%. The deformed blood vessels are present in about 23% of patients and can result in stroke, and听arteriovenous malformations in the听lungs grow in about 50% of patients, she said.听
Both Cook and her daughter know firsthand how difficult it can be to deal with just the routine nosebleeds that usually accompany this disease.
鈥淲hen I was a sophomore in high school, after I had my tonsils out I got this horrible bloody nose,鈥 Murphy-Cook said. 鈥淚t was like a faucet of blood. I lost so much blood I was hospitalized. It was crazy, absurd. I thought it was just a post-op problem at the time, but it was probably the HHT.鈥
On average, it takes 27 years from the first symptom before a diagnosis
Treatment can prevent serious side effects
Children of a parent with the illness have 50-50 odds of being born with the disease. Genetic tests can diagnose it in more than 85% of patients, and imaging tests can both locate and measure any听arteriovenous malformations. If found early enough, treatment can prevent the serious side effects.
At the Stanford center, different specialists treat the diverse symptoms, but the most serious concerns are the often-silent malformations that nobody knows are there until they cause a serious event such as a stroke, Spiekerkoetter said.听
鈥淲e have people come in to see our specialists to have their symptoms, such as nosebleeds and anemia, treated,鈥 she said.听鈥淲e screen patients for additional听arteriovenous malformations听in the organs which allows us to prevent the more severe complications, such as strokes or head bleeds. And we suggest genetic testing to determine who else in the family might carry the disease.鈥
After genetic tests uncovered their HHT, Cook and her daughter听underwent imaging tests, which identified malformations in their lungs. Murphy-Cook鈥檚 are small and don鈥檛 require any treatment for now. She鈥檒l return for more tests in three years to monitor their growth. Cook鈥檚 malformations, though, were large enough to require treatment. She underwent a nonsurgical, catheter-based procedure by an interventional radiologist at 糖心传媒, who inserted tiny plugs in the vessels of her lungs to block blood flow through the malformations with the aim of preventing future strokes.
My strokes were small this time and didn鈥檛 cause any permanent damage except some mild memory loss
鈥淢y strokes were small this time and didn鈥檛 cause any permanent damage except some mild memory loss,鈥 Cook said. 鈥淚 remember my grandmother used to get bloody noses so bad she always put a tissue up her nose. She didn鈥檛 know she had this. She had a couple of small strokes and then finally had a more serious one that she died from. Some people just don鈥檛 want to know, but I wanted all my kids tested and hope they get their kids tested too. It鈥檚 so important to know.鈥
