Pulmonary hypertension associated with hereditary hemorrhagic telangiectasia: from genetics to clinical management - PubMed
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- #Hereditary Hemorrhagic Telangiectasia
- #Clinical Management
- #Pulmonary Hypertension
- Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with a prevalence of 1/5000 to 1/7000.
- HHT is caused by pathogenic variants in ENG, ACVRL1, and SMAD4 genes, part of the TGF-β signaling pathway.
- Clinical features of HHT include recurrent epistaxis, gastrointestinal bleeding, and visceral arteriovenous malformations (AVMs).
- Pulmonary hypertension (PH) is a heterogeneous complication of HHT, with prevalence ranging from 1.5% to 45%.
- PH in HHT can result from high cardiac output due to AVMs, left heart disease, or precapillary PH (PAH).
- Accurate hemodynamic classification via right heart catheterization is crucial for determining treatment strategies.
- Treatment options include AVM embolization, hepatic transplantation assessment, anti-angiogenic therapies, and PAH-approved drugs.
- Optimal management requires a multidisciplinary approach in specialized centers experienced in both HHT and PH.