The Role of Liver Imaging in Hereditary Hemorrhagic Telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by spontaneous epistaxis, telangiectasia, and visceral vascular malformations. Hepatic vascular malformations are common, though a minority are symptomatic. Symptoms are dependent on the severity and exact type of shunting caused by the hepatic malformation: Arteriosystemic shunting leads to manifestations of high output cardiac failure, and arterioportal shunting leads to portal hypertension. Radiologic imaging, including ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI), is an important tool for assessing liver involvement. Doppler ultrasonography is the first-line screening modality for HHT-related liver disease, and it has a standardized scale. Imaging can determine whether shunting is principally to the hepatic vein or the portal vein, which can be a key determinant of patients’ symptoms. Liver-related complications can be detected, including manifestations of portal hypertension, focal liver masses as well as ischemic cholangiopathy. Ultrasound and MRI also have the ability to quantify blood flow through the liver, which in the future may be used to determine prognosis and direct antiangiogenic therapy.

Right hemihepatectomy combined with ligation of the common hepatic artery and gastroduodenal artery for the treatment of intrahepatic HHT: A case report

“…Although the vast majority of liver VMs are asymptomatic and do not require treatment, symptomatic liver VMs must be treated aggressively since they increase mortality ( 9 ). Intravenous bevacizumab helps relieve symptoms and has been used as a bridge to orthotopic liver transplant (OLT) ( 10 ). Given that hepatic artery embolization is associated with mortality, it is only recommended in late-stage high-output cardiac failure (HOCF), only when medical therapies fail, and only when OLT is not an option ( 5 ).…”

Heart Failure Due to Liver Involvement of Hereditary Hemorrhagic Telangiectasia, Diagnosed by Point-of-Care Ultrasonography

“…The arterioportal shunt pattern leads to presinusoidal portal hypertension as the portal veins are subjected to the high pressures of arterial blood flow. 3…”

“…Depending on the number of criteria, the diagnosis is categorized as definite with three or more criteria, suspected with two criteria, or unlikely with one criterion. 2,3 In patients with HHT, liver involvement is a common finding, these patients are typically asymptomatic, and it is more prevalent among females. 3 One of the most serious complications of liver compromise is the high output heart failure (HOHF) which has been reported to vary between 25% and 65%.…”

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) Part I. Pathophysiology, clinical symptoms and recommend screening for vascular malformations

“…Jsou dobře viditelné při endoskopickém vyšetření. V klinické studii bylo také prokázáno, že značný přínos má vyšetření polknutou videokapslí (28), ale lze použít i další metody, jak je popisuje česká (36,37,38).…”