Specialties Involved in Managing Hereditary Hemorrhagic Telangiectasia (HHT)
Hereditary Hemorrhagic Telangiectasia (HHT) requires management by a multidisciplinary team of specialists with HHT-specific expertise, ideally coordinated through an HHT center of excellence.
Core Specialties for HHT Management
Primary Coordinating Specialists
- Hematology: Manages anemia, iron deficiency, and systemic treatments 1
- Otolaryngology (ENT): Manages epistaxis (nosebleeds), which is the most common symptom 2
Organ-Specific Specialists
- Interventional Radiology: Critical for diagnosis and treatment of arteriovenous malformations (AVMs) 3, 4
- Gastroenterology: Manages gastrointestinal bleeding and telangiectasias 5
- Hepatology: Manages liver vascular malformations 5
- Pulmonology: Screens and manages pulmonary AVMs 5
- Neurology/Neurosurgery: Manages cerebral AVMs 6
- Cardiology: Evaluates and treats high-output cardiac failure, especially in patients with liver VMs 5
Additional Important Specialists
- Medical Genetics: Provides genetic testing, counseling, and family screening 6
- Obstetrics: Manages pregnancy and delivery in HHT patients 5
- Pediatrics: Provides specialized care for children with HHT 5
Specialist Involvement Based on Clinical Presentation
For Bleeding Complications
- ENT: First-line for epistaxis management
- Gastroenterology: For GI bleeding
- Hematology: For anemia and iron deficiency management
For Vascular Malformations
- Interventional Radiology: For embolization procedures
- Hepatology: For liver VM management
- Pulmonology: For pulmonary AVM evaluation
- Neurology/Neurosurgery: For cerebral AVM management
Clinical Pitfalls to Avoid
- Delayed Diagnosis: HHT is often underdiagnosed with significant diagnostic delays 5
- Fragmented Care: Patients benefit most from coordinated care at specialized HHT centers
- Inappropriate Liver VM Treatment: Transarterial embolization should be absolutely avoided in patients with biliary symptoms/signs 5
- Inadequate Screening: Family members should undergo appropriate screening once HHT is diagnosed in a relative
- Missed Complications: Pulmonary and cerebral AVMs can cause life-threatening complications if not detected early
Treatment Coordination
Liver transplantation decisions for HHT patients with liver involvement should only be made after conferring with a medical team with expertise in HHT 5. The timing and appropriateness of invasive procedures require careful coordination between specialists to minimize risks and optimize outcomes.
For optimal management, patients should ideally be referred to centers with multidisciplinary expertise in HHT, where specialists can collaborate on comprehensive care plans addressing all aspects of this complex disorder.