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Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations
Elisabetta Buscarini1, Henry Plauchu, Guadalupe Garcia Tsao
1Gastroenterology Department, Maggiore Hospital, Crema, Italy. ebuscarini@rim.it
Summary
Clinical guidelines for hereditary hemorrhagic telangiectasia (HHT) liver involvement recommend Doppler US for initial imaging and advise against liver biopsy. Management focuses on medical therapy before considering invasive treatments for symptomatic HHT liver disease.
Area of Science:
- Hepatology
- Genetics
- Vascular Medicine
Background:
- Hereditary hemorrhagic telangiectasia (HHT) frequently involves the liver, potentially leading to significant morbidity.
- Liver involvement in HHT can be asymptomatic or lead to severe complications.
Framework:
- Formal consensus development process using nominal group technique.
- Recommendations generated based on panel member agreement across three rounds.
- Evidence quality and strength graded for each consensus statement.
Implementation:
- Doppler ultrasonography (US) is recommended as the first-line imaging modality for liver assessment in HHT patients.
- Liver biopsy is strongly discouraged in patients with suspected or confirmed HHT.
- Focal nodular hyperplasia is more prevalent in HHT patients with liver involvement.
Implications:
- Establishes standardized, evidence-based clinical management for HHT-related liver disease.
- Prioritizes non-invasive diagnostics and medical management.
- Guides therapeutic decisions, reserving invasive procedures for refractory cases.
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