Hereditary Hemorrhagic Telangiectasia (HHT)
The hereditary hemorrhagic telangiectasia (HHT) center at SSM Health Cardinal Glennon Children’s Hospital is a highly specialized, multidisciplinary center led by nationally recognized experts in pediatric care, and one of the few HHT pediatric specialists in the country.
What is HHT?
HHT is a genetic disorder of the blood vessels, also known as Osler-Weber-Rendu disease. In individuals with HHT, blood vessels develop abnormally, leading to fragile and/or malformed blood vessels (AMVs) in the nose, lungs, brain, or liver. HHT affects one out of 5,000 people in the United States, but up to 90% have never been diagnosed.
Symptoms of HHT in children can include:
- Chronic nosebleeds
- Coughing up blood
- Anemia/iron deficiency
- Shortness of breath and exercise intolerance
- Chronic fatigue
- Migraine headaches
- Hemorrhagic or ischemic stroke (rare)
How is HHT diagnosed and treated?
Because it’s a genetic disease, HHT is detected most accurately through genetic screening. Sometimes, the disease is detected after symptoms arise and families are encouraged to consider genetic testing for other related family members. If your child is found to have HHT, they should be screened for the malformations (AVMs), particularly if they are symptomatic.
Fortunately, malformed blood vessels in the brain or lungs can be identified and corrected before problems arise using catheter embolization or various surgical procedures. Your child may be prescribed supplemental iron and/or blood transfusions if iron deficiency anemia is present.
Specialized care for your child
Our goal is to work with you to ensure your child receives an accurate diagnosis and appropriate therapy to minimize the effects of HHT. Our center includes pediatric HHT specialists as well as specialists in child neurology and neurosurgery; cardiovascular disease; gastroenterology and hepatology; ear, nose, and throat; and pulmonary medicine. We also offer also a dedicated genetic screening and counseling program to support your family’s needs.
Learn more about our new HHT center or for questions or more information, contact Lynne Sekarski, MSN, RN, CPN, HHT Nurse Program Coordinator at 314-678-4489.
