[Liver involvement in hereditary hemorrhagic telangiectasia]

Area of Science:

• Hepatology
• Genetics
• Vascular Medicine

Background:

• Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder.
• It causes widespread telangiectases affecting various organs, including the liver.
• Hepatic involvement prevalence in HHT ranges from 41% to 78% in recent studies.

Observation:

• Symptomatic liver involvement in HHT is infrequent, occurring in only 8% of affected patients.
• Liver manifestations include diffuse vascular malformations and arteriovenous, arterioportal, or portovenous shunting.
• Common presentations are high-output heart failure, portal hypertension, and biliary disease.

Findings:

• A case of a 58-year-old woman with HHT presenting with heart failure and portal hypertension is described.
• Imaging revealed hepatic telangiectases and an arterioportal shunt.
• This case highlights the diagnostic considerations for liver involvement in HHT.

Implications:

• Symptomatic hepatic HHT is extremely rare but should be suspected in patients with HHT and compatible clinical/imaging findings.
• Early recognition and management of hepatic HHT are crucial for patient outcomes.
• Further research into the pathophysiology and treatment of hepatic HHT is warranted.