What is the treatment approach for hereditary hemorrhagic telangiectasia (HHT)?

Treatment Approach for Hereditary Hemorrhagic Telangiectasia

Begin with nasal moisturization for epistaxis, escalate to oral tranexamic acid if inadequate, then proceed to local ablative therapies, and reserve systemic bevacizumab for refractory cases that fail all other interventions. 1, 2

Stepwise Treatment Algorithm for Epistaxis

First-Line: Nasal Moisturization

• Apply nasal moisturizers as the initial intervention for all patients with epistaxis 2
• Use resorbable packing materials when packing is necessary to reduce rebleeding risk during removal 2

Second-Line: Oral Tranexamic Acid

• Prescribe oral tranexamic acid when moisturization fails to adequately control epistaxis 2
• This antifibrinolytic reduces epistaxis duration by 17.3% and composite epistaxis endpoints by 54% 2

Third-Line: Local Ablative Therapies

• Perform local ablation procedures (laser therapy, sclerotherapy) for severe epistaxis unresponsive to moisturization and tranexamic acid 2, 3
• Sclerotherapy of telangiectasias, including in-office applications, has proven safe and effective 3

Fourth-Line: Systemic Bevacizumab

• Administer systemic bevacizumab only for severe epistaxis failing all prior interventions (moisturization, tranexamic acid, and local ablation) 2
• Bevacizumab produces a 50% reduction in epistaxis severity score 2
• This anti-VEGF antibody can be used submucosally, topically, or systemically 3, 4

Management of Gastrointestinal Bleeding

• Treat GI bleeding with the same stepwise approach: tranexamic acid first, then bevacizumab for refractory cases 1, 2
• Perform upper endoscopy to evaluate for gastrointestinal telangiectasias, particularly in patients with unexplained anemia disproportionate to epistaxis severity 2
• Note that GI telangiectasias typically manifest in late middle age (mean age 55.4 years) compared to epistaxis which begins in childhood 5

Anemia and Iron Deficiency Management

• Implement iron replacement therapy for all patients with recurrent bleeding 2
• Monitor hemoglobin levels regularly, but prioritize quality of life over hemoglobin targets when making treatment decisions 2
• Recognize that epistaxis causes significant psychosocial morbidity, social isolation, and employment difficulties beyond just anemia 2

Liver Vascular Malformation Management

• Perform Doppler ultrasonography as first-line imaging for liver involvement in all HHT patients 1, 2
• Never perform liver biopsy in any patient with proven or suspected HHT due to high hemorrhage risk 1, 2
• Grade liver involvement (0-4) based on hepatic artery diameter, peak flow velocity, resistivity index, and peripheral hepatic hypervascularization 2
• Avoid all invasive therapies for liver involvement unless the patient has failed intensive medical therapy 1, 2
• Consider liver transplantation only after failure of intensive medical therapy, as liver involvement can cause substantial morbidity and mortality when symptomatic 2
• Recognize that hepatic vascular malformations are more common and symptomatic in females 2

Pulmonary Arteriovenous Malformation Management

• Screen all HHT patients for pulmonary AVMs using contrast echocardiography or chest CT 2
• Treat pulmonary AVMs presymptomatically to prevent life-threatening complications including stroke and brain abscess 2
• Use interventional radiology techniques, particularly embolization, for pulmonary AVM management 6

Cerebral Vascular Malformation Screening

• Perform MRI of the brain to detect cerebral vascular malformations in all diagnosed HHT patients 2

Multidisciplinary Care Coordination

• Refer all patients diagnosed with HHT to a multidisciplinary team with expertise in HHT management 2, 7
• Coordinate care among otolaryngology, gastroenterology, interventional radiology, hematology, and genetics 7, 3
• Recognize that diagnostic delays average 26 years from symptom onset, emphasizing the need for early recognition 5

Pediatric Considerations

• Begin screening for pulmonary and cerebral AVMs in childhood, as epistaxis typically starts at mean age 11 years 1, 5
• Provide genetic counseling given the 50% inheritance risk for each child of an affected parent 2

Pregnancy Management

• Follow specific pregnancy and delivery recommendations from the Second International HHT Guidelines 1
• Coordinate care between obstetrics and HHT specialists given the autosomal dominant inheritance pattern 2

Critical Pitfalls to Avoid

• Never perform liver biopsy - this carries extremely high hemorrhage risk 1, 2
• Do not use non-resorbable nasal packing materials, as removal causes rebleeding 2
• Do not delay systemic bevacizumab indefinitely in patients with severe refractory bleeding affecting quality of life 2
• Do not focus solely on hemoglobin levels; epistaxis causes profound psychosocial impact requiring treatment even with acceptable hemoglobin 2