糖心传媒

Hereditary hemorrhagic telangiectasia (HHT) is a genetic condition that causes blood vessel abnormalities. Telangiectases are a type of arteriovenous malformation (AVM) consisting of dilated blood vessels near the skin surface that appear as red dots. Some larger AVMs generate irregular connections between entangled vessels that can potentially become life-threatening when located in organs, such as the liver, lungs, and brain.

HHT is often undiagnosed or misdiagnosed because symptoms may be absent, subtle, or similar to those often associated with common conditions. These symptoms may include:

• Nosebleeds
• Headaches
• Shortness of breath
• Abdominal pain

AVMs that develop in organs may go unnoticed until complications arise. AVMs in these locations can present serious health risks:

• Brain: Ruptured AVMs can cause dizziness, distorted vision, migraines, seizures, or strokes.
• GI tract: AVMs can develop in the esophagus, stomach, small intestine, and colon, with ruptures resulting in severe anemia and fatigue.
• Liver: AVMs in the liver can lead to blood shunting, resulting in portal hypertension, biliary disease, or high cardiac output heart failure.
• Lungs: AVMs can cause breathing difficulties. They may also allow blood clots or bacteria to travel to the brain, causing a stroke or brain abscess. In addition, patients with HHT have an increased risk for pulmonary hypertension.

鈥淏ecause this is an inherited disease, HHT-related complications can begin forming before birth,鈥� explains , professor of pediatrics in the Division of Medical Genetics at Stanford Medicine and medical genetics director of the at Stanford Medicine Children鈥檚 Health. This makes genetic testing a critical component of the diagnostic process for families. 鈥淓arly identification of at-risk patients allows us to recognize symptoms and prevent serious complications through regular screening.鈥�

糖心传媒 is one of the few hospitals in the nation accredited by听听as an听HHT Center of Excellence. This designation recognizes our extensive experience and expertise in diagnosing and treating this rare condition. Due to its complexity, we use a multidisciplinary approach to provide personalized care for each patient鈥檚 unique needs.

Because there is no cure for HHT, interventions aim to ease symptoms or stop their progression. We offer pediatric and adult patients a comprehensive diagnostic work-up and treatment options including a range of catheter-based interventions, surgery, and medical therapy to identify and address HHT-related symptoms, including:

• Brain AVMs:听Headaches, seizures, muscle weakness, numbness, vision problems, and difficulty with coordination or speech
• GI tract AVMs:听Bloody stools, abdominal pain, and anemia
• Liver AVMs: Heart failure, abdominal pain, and abnormal liver function
• Lung AVMs:听Signs of cerebral stroke such as numbness, vision problems, difficulty with coordination and speech, coughing up blood, shortness of breath (especially during exertion), and chest pain
• Telangiectases:听Appearance of blood vessels that are small red, or purple dots on the skin, lips, and inside the mouth.

鈥淟iving with a hereditary disease can be physically and emotionally challenging,鈥� says Edda Spiekerkoetter, MD, a pulmonary hypertension specialist at 糖心传媒 and director of the HTT Center of Excellence. 鈥淭his center allows us to capitalize on translational 糖心传媒 that directly impacts the care we provide and our ability to help patients meet those challenges throughout their lives.鈥�


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