Hepatic involvement in hereditary hemorrhagic telangiectasia:

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is an autosomal-dominant vascular disease characterized by mucocutaneous or visceral angiodysplastic lesions (telangiectases and arteriovenous malformations) that may be widely distributed throughout the cardiovascular system. The recognition of mucocutaneous telangiectases, the occurrence of spontaneous and recurrent episodes of epistaxis, the presence of visceral involvement, and a family history of this disease are the clinical criteria that allow diagnosis. In comparison with skin, lungs, gastrointestinal tract, and brain involvement, hepatic involvement defined by clinical criteria alone has long been considered uncommon. Our experience with a large group of HHT patients, even those asymptomatic for liver involvement, demonstrates that it is more frequent than reported and is characterized by the presence of intrahepatic shunts, disseminated intraparenchymal telangiectases, and other vascular lesions. Congestive cardiac failure, portal hypertension, portosystemic encephalopathy, cholangitis, and atypical cirrhosis have been reported as possible serious complications related to this condition. Thus, a correct diagnosis is important, and diagnostic imaging has a fundamental role in detecting alterations involving the liver. The possibilities to perform a multiphasic study and to provide high-quality multiplanar and angiographic reconstructions, gives multidetector row helical computed tomography the ability to detect and characterize the complex anatomopathologic alterations typical of this disease.

Basal ganglia hyperintensity on T1‐weighted MRI in rendu–osler–weber disease

“…One of our patients had intrahepatic shunts, in the form of arterioportal shunts, detected on liver ultrasound (4,5). Arterioportal shunts are the most common type of shunting in ROW, with the other two types being arteriosystemic (hepatic artery to portal veins) and portosystemic (portal vein to hepatic veins or vena cava) (4,5). In the other two patients there were no detectable intrahepatic shunts on CT angiography and liver ultrasound.…”

“…It is speculated that T1 shortening on brain MR images may be caused by lower concentration of Mn than that required to produce neurologic symptoms (2). One of our patients had intrahepatic shunts, in the form of arterioportal shunts, detected on liver ultrasound (4,5). Arterioportal shunts are the most common type of shunting in ROW, with the other two types being arteriosystemic (hepatic artery to portal veins) and portosystemic (portal vein to hepatic veins or vena cava) (4,5).…”

Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences

“…5 Hepatic involvement in HHT has been described in several studies. 6,7 Characteristic HHT hepatic localization consists of arteriovenous shunting responsible, in severe cases, for high-output cardiac failure (fistulas between the hepatic artery and hepatic veins), ascites (fistulas between the hepatic artery and portal veins), and cholangiopathy with sepsis. Liver transplantation is the main treatment option at these advanced stages.…”

“…DS identified hepatic nodules compatible with FNH in 14 patients in this series (13.7 %), all of them women. The mean number of lesions per patient was 3.5 (range, [1][2][3][4][5][6][7][8][9][10][11][12], and the mean maximum diameter per patient was 49 mm (range, 10-90 mm). A nuclear magnetic resonance examination was performed in 11 cases and confirmed the presence of one or more nodule compatible with FNH in 10 cases.…”

Hepatic perfusion disorders: Etiopathogenesis and related diseases

“…HHT affects mucocutaneous tissue most frequently, but any part of the body can be affected, including the liver. The hepatic changes, including widened and tortuous hepatic arteries, telangiectases, arteriovenous and portovenous fistulas, connective tissue formation with fibrosis and atypical cirrhosis, high cardiac output, secondary congestive heart failure due to a left-to-right intrahepatic shunt, portal hypertension, gastrointestinal hemorrhage, ascites, or encephalopathy [30][31][32] . APSs are nearly universal in HHT, and HPDs often occur.…”