Hepatic involvement in Osler-Weber-Rendu disease: findings on pulsed and color Doppler sonography.

Naganuma, Hiroko; Ishida, Hideshi; Niizawa, Makoto; Igarashi, Kiyomi; Shioya, Takanobu; Masamune, Osamu

doi:10.2214/ajr.165.6.7484577

Cited by 68 publications

(68 citation statements)

References 6 publications

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“…12,28 Arterial hypervascularization was present in all of our HHT patients but in none of our controls. However, both parameters require an experienced investigator and cannot easily be quantified.…”

Section: Discussionmentioning

confidence: 78%

Sonographic Criteria for the Diagnosis of Hepatic Involvement in Hereditary Hemorrhagic Telangiectasia (Hht)

Caselitz¹

2003

Hepatology

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Hepatic involvement in hereditary hemorrhagic telangiectasia (HHT) is highly variable andH ereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber syndrome) is an autosomal-dominant genetic disorder characterized by the development of angiodysplasias with dilated vessels as well as arteriovenous aneurysms and shunts. Mutations of at least 2 genes (i.e., endoglin, acitivin receptor-like kinase-1) have been identified, which lead to the typical clinical picture of HHT comprising epistaxis, telangiectasias of the skin and mucous membranes, and a characteristic family history.Visceral and hepatic lesions have been described frequently in patients with hepatic involvement. The proportion of patients with hepatic involvement ranges from 8% to 31%. 1 Severe complications such as cardiac failure and portal hypertension may develop and often require invasive therapeutic measures. [2][3][4] Hepatic involvement in HHT is highly variable. It may be confused with differential diagnoses such as cirrhosis, focal nodular hyperplasia, and hepatic congestion. The situation is complicated further by the fact that patients with long-standing HHT may be infected with the hepatitis C virus due to recurrent blood transfusions. The molecular basis of hepatic HHT involvement has not yet been characterized.The gold standard to diagnose hepatic involvement in HHT is the selective angiography of the hepatic artery. However, this is an invasive, labor-intensive, and expensive procedure. Therefore, ultrasound was proposed as a Abbreviations: HHT, hereditary hemorrhagic telangiectasia; RI, resistance index; PI, pulsatility index. From the

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Section: Discussionmentioning

confidence: 78%

Sonographic Criteria for the Diagnosis of Hepatic Involvement in Hereditary Hemorrhagic Telangiectasia (Hht)

Caselitz¹

2003

Hepatology

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“…7 Portosystemic shunting in HHT has been delineated anatomically only recently. 8,12 AV shunts between the HA and PV are well described and may result in portal hypertension and gastroesophageal varices. 8,12,20 Common presenting signs include hepatomegaly, right upper quadrant pain, pulsatile mass, and audible bruit.…”

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confidence: 99%

Liver transplantation as definitive therapy for complications after arterial embolization for hepatic manifestations of hereditary hemorrhagic telangiectasia

et al. 1998

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Experience with hepatic artery embolization for the treatment of symptomatic hepatic arteriovenous malformations (AVMs) in Rendu-OslerWeber disease is limited. We report 2 cases of hepatic AVMs that caused mesenteric angina-like symptoms that were treated with embolization. Both patients developed parenchymal and bile duct necrosis, intrahepatic bilomas, and refractory biliary sepsis, subsequently leading to liver failure. We hypothesize that the pathophysiological cause of biliary necrosis in this setting is similar to that which occurs in the setting of hepatic artery thrombosis of the liver allograft. Progressive liver failure in these patients was treated successfully by liver transplantation. Liver transplantation offers definitive therapy by removing the source of ongoing sepsis, restoring normal liver function, and eliminating the intrahepatic AV shunt.

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“…Abnormality of the common hepatic artery (diameter, flow velocity, tortuosity) may be one of the earliest signs of liver involvement, and an increased diameter appears to be one of the most specific signs of the disease. 10,[16][17][18] We thus considered, in the first group (G1), patients with no abnormality evidenced at DS in the diameter or maximum velocity of the hepatic artery portal and hepatic veins (Table 1); in group 2, we included patients with "early changes" involving only the diameter or maximum velocity of the hepatic artery. Group 3 patients presented signs of significant arteriovenous fistulas, involving either the portal or hepatic veins, or a directly visible intrahepatic vessel suggestive of arteriovenous fistula, and all patients in group 3 had hepatic artery diameter enlargement or high maximum velocity.…”

Section: Interpretation Of the Resultsmentioning

confidence: 99%

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

Gincul¹,

Lesca²,

Gelas-Dore³

et al. 2008

Hepatology

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H ereditary hemorragic telangiectasia (HHT) is an autosomal dominant genetic disease driven by mutations in genes such as endoglin (ENG), activin receptor-like kinase type 1 (ACVRL1), and Smad-4, which control the transforming growth factor beta proliferation pathway. 1 HHT patients usually develop a wide range of cutaneous, mucosal, and sometimes visceral arteriovenous malformations. [2][3][4] The symptomatology is dominated by epistaxis and anemia, but potentially life-threatening visceral localizations can be present, such as pulmonary, hepatic, and cerebral vascular malformations. 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. Previous, mostly small series have shown Doppler sonography (DS) abnormalities in 30% to 70% of HHT patients. 8,9 Early and advanced DS findings include (1) enlargement, increased flow velocity, and tortuosity of hepatic artery branches; (2) increased diameter and flow velocity in he-

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Hepatic involvement in Osler-Weber-Rendu disease: findings on pulsed and color Doppler sonography.

Cited by 68 publications

References 6 publications

Sonographic Criteria for the Diagnosis of Hepatic Involvement in Hereditary Hemorrhagic Telangiectasia (Hht)

Sonographic Criteria for the Diagnosis of Hepatic Involvement in Hereditary Hemorrhagic Telangiectasia (Hht)

Liver transplantation as definitive therapy for complications after arterial embolization for hepatic manifestations of hereditary hemorrhagic telangiectasia

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

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