RESUMO
Hereditary hemorrhagic telangiectasia (HHT) has significant morbidity due to multiorgan involvement and an unpredictable disease course. We analyzed the data of 14 patients diagnosed with HHT. The case series comprised 14 patients with a median age at presentation of 48 years old (41-74 years). In twelve patients (85.7%), the diagnosis was confirmed by using the Curacao Criteria. The most common reason for admission was epistaxis, with 9 patients (57%) presenting with nosebleed refractory to prolonged self-tamponade. The biochemical abnormalities identified were elevations in AP and gamma-GT; liver synthetic function was generally normal, even though 21% of patients had clinical or imaging findings for cirrhosis. Nosebleeds were the main reason for admission and significantly impacted quality of life through anemia and frequent hospital admissions. However, the visceral manifestations seemed to be more serious. The hepatic arteriovenous malformations (AVMs) appeared to remain asymptomatic or led to minimal changes for the majority of patients; some cases were associated with liver and biliary tract ischemia, necrosis leading to acute liver failure and even death. Hepatic AVMs can also lead to high-output heart failure due to arterio-venous shunting. The most frequent AVM was hepatic artery to hepatic vein, with secondary hepatic vein dilation and hemodynamic consequences.
