Finding an HHT Specialist
The American Academy of Otolaryngology-Head and Neck Surgery recommends that all patients diagnosed with HHT be referred to a multidisciplinary team with expertise in HHT management, as optimal care requires specialized centers experienced in evaluating and managing both the bleeding manifestations and life-threatening arteriovenous malformations that characterize this disease. 1
Why Specialized HHT Centers Are Essential
- HHT affects multiple organ systems including lungs, brain, liver, gastrointestinal tract, and nasal mucosa, requiring coordinated screening and management across multiple specialties 1, 2
- Patients with SMAD4 mutations (1-2% of HHT cases) develop combined HHT and juvenile polyposis syndrome, and all patients with confirmed SMAD4 mutations must be managed in conjunction with a specialist HHT center with experience in evaluating both conditions 1
- Asymptomatic arteriovenous malformations can cause life-threatening complications including stroke, cerebral abscess, or hemorrhage, making expert screening protocols critical 1, 3
How to Locate an HHT Specialist
While the provided evidence does not include a specific directory or database for finding HHT specialists by state, the guidelines emphasize several key points:
- Multidisciplinary teams are required, typically including otolaryngology, pulmonology, gastroenterology, hepatology, interventional radiology, and genetics 1, 4
- Academic medical centers with experience in rare vascular disorders are most likely to have established HHT programs 2, 5
- The Cure HHT organization (formerly HHT Foundation International) maintains a network of HHT Centers of Excellence throughout North America that meet specific criteria for comprehensive HHT care 2
What to Expect from an HHT Center
- Comprehensive organ screening including contrast echocardiography or chest CT for pulmonary AVMs, brain MRI for cerebral AVMs, and Doppler ultrasonography for liver involvement 1
- Genetic testing for mutations in ENG, ACVRL1, and SMAD4, which identifies causative mutations in 97% of patients with definite clinical diagnosis 1, 6
- Stepwise treatment protocols starting with nasal moisturization, escalating to oral tranexamic acid, then local ablative therapies, and finally systemic bevacizumab for refractory bleeding 7
- Family screening and genetic counseling, as each child of an affected parent has a 50% inheritance risk 1
Critical Screening Requirements
- All HHT patients must undergo screening for pulmonary arteriovenous malformations, as these can be treated presymptomatically to prevent stroke and cerebral abscess 1
- SMAD4 mutation carriers require upper GI tract surveillance every 1-3 years starting at age 18 years due to significantly higher risk of gastric polyposis and cancer 1
- Pediatric screening should begin in childhood, as epistaxis typically starts at mean age 11 years 1