HHT Clinic: What Is Hereditary Hemorrhagic Telangiectasia?

HHT, also known as Osler-Weber-Rendu syndrome, is a genetic condition in which there is an abnormality in the formation of the small blood vessels. HHT affects approximately one in 5,000 people. Males and females from all racial and ethnic groups are affected equally by the condition. Most often, individuals present with nosebleeds or visible red spots (telangiectasias) on the skin. Patients can also develop arteriovenous malformations (AVMs) in various body organs. AVMs may rupture with bleeding in vital organs such as lungs, intestines, brain, or spine. Although telangiectasias or AVMs cannot be prevented, they can be treated to avoid complications of bleeding and anemia. Younger family members can be screened to prevent life-threatening bleeding.

Signs And Symptoms of HHT

• Nosebleeds
  • Caused by nasal telangiectasias that are typically identifiable on examination
  • Most common symptom of HHT, affecting nearly 90% before age forty
  • Can present at any age from early childhood through adulthood
  • Can occur spontaneously and may be recurrent
  • Frequency and severity of nosebleeds vary
• Skin telangiectasias
  • Most common sign of HHT
  • Presents as small red/purple pinpoint spots with numbers increasing with age
  • May not be visible or easily identified until someone has reached their thirties or forties
  • Typically found on the hands, face, mouth, and nose
• Arteriovenous malformations (AVM)
  • Result of abnormal blood vessels connecting arteries directly to veins
  • Can be present in lungs, intestines, or brain, and, rarely, spine
  • Can present with serious or life-threatening bleeding

Specialists

Our HHT Treatment Center is staffed by an integrated team of healthcare providers with special knowledge of and interest in HHT. We use a multidisciplinary approach for screening, diagnosis, and management.

• Pediatric and adult hematologists with specific knowledge of HHT
• Genetic counseling and testing
• Screening for at-risk relatives
• Management of complications such as nosebleeds and anemia
• Access to onsite expert multidisciplinary team as needed, including physical therapy, dietary, dental hygiene, social work, and academic/career counseling
• Access to referral and care coordination with other needed specialists such as cardiology, pulmonology, neurology, gastroenterology, and interventional radiology