Hereditary hemorrhagic telangiectasia with multiple hepatic and pulmonary nodular lesions

A 50-year-old female visited the hospital for further evaluation of multiple pulmonary and hepatic nodules. First, she visited her primary physician for general fatigue due to anemia. She had recurrent epistaxis, and her mother had suffered from hereditary hemorrhagic telangiectasia (HHT). Telangiectasias were present in the stomach. This patient was diagnosed with HHT. Computed tomography (CT) revealed multiple pulmonary and hepatic nodules. The pulmonary nodules were due to bleeding from arteriovenous malformations of the lung. Abdominal CT and angiography showed a dilated and meandering hepatic artery, arteriovenous shunts and multiple hepatic nodules. Gadolinium-ethoxybenzyl-diethylenetriamine pentaacetic acid (Gd-EOB-DTPA)-enhanced magnetic resonance imaging (MRI) showed enhancement in the early dynamic phase and in the liver-specific phase. A liver tumor biopsy of a hepatic nodule showed nodular regenerative hyperplasia (NRH). This report presents a case of HHT with multiple pulmonary and hepatic nodular lesions. Gd-EOB-DTPA-enhanced MRI was useful for making a diagnosis of NRH.     

Liver involvement in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease with an autosomal dominant inheritance pattern, characterized by widespread telangiectases that can involve the skin, mucous membranes, lung, brain, gastrointestinal tract and/or liver. It has an estimated prevalence of 1 to 2 cases per 10,000. The prevalence of hepatic involvement in HHT had been estimated in 8% to 31% in retrospective studies but in more recent large prospective series the prevalence is higher, ranging between 41% and 78%. Nevertheless, symptoms occur only in 8% of the patients with HHT and liver involvement. Liver involvement by HHT is characterized by widespread diffuse liver vascular malformations that give rise to three types of shunting: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal vein), and portovenous (portal vein to hepatic vein). The three most common initial clinical presentations are high-output heart failure, portal hypertension and biliary disease. We describe the case of a patient with diagnosis of HHT and hepatic involvement and we review of the literature. A 58-year-old woman with HHT came to consultation with heart failure symptoms and echographic and endoscopic findings of portal hypertension. The multislice computed tomography of the abdomen revealed the presence of multiple telangiectases in the hepatic parenchyma and a shunt from the hepatic artery to the portal vein. We conclude that the symptomatic involvement of the liver in HHT is an extremely infrequent entity. It must be suspected when clinical manifestations and compatible imagenologic findings exist in patients with antecedents of HHT.     

A rare case of hemothorax due to rupture of an arteriovenous fistula: successful treatment by enucleation]

Hemothorax due to a rupture in an arteriovenous fistula is rare. We report a case in a 26-year-old woman who presented with continuous right chest pain. On admission, chest radiography revealed a nodular shadow in the right lower lung field with right pleural effusion. The pleural effusion aspirated was blood, suggesting a hemothorax due to the rupture of a pulmonary arteriovenous fistula. The shunt between A 8 and V 8 was confirmed in pulmonary arteriograms. A photomicrograph of the resected specimen showed a dilated arteriovenous fistula, part of whose inner wall was abnormally thin. The pleural wall surrounding the fistula was hypertrophic in parts, suggesting possible repetitive inflammation related with the rupture. Although transcatheter embolization is useful in the treatment of arteriovenous fistulae, it is technically difficult, and cases of fatal complications have been reported. While surgical resection is the most reliable treatment available, the present patient was already at high risk of dying. Accordingly, we chose to perform enucleation, and this was successful.     

Idiopathic intrahepatic arterioportal fistula treated by hepatectomy assisted by balloon-occluded retrograde transvenous obliteration: Report of an elderly case.

An 80-year-old woman with hepatic encephalopathy and esophagogastric varices was admitted. Doppler sonography and arteriography demonstrated an arterioportal fistula in the right anterior superior segment of the liver. Two attempts at transcatheter arterial embolization failed to manage the fistula and portacaval collaterals. We carried out hepatectomy and balloon-occluded retrograde transvenous obliteration, by which the portal flow changed from hepatofugal to hepatopetal. The resected specimen demonstrated multiple small holes in the right portal vein, which are arterioportal fistula. The underlying liver was normal. After treatment, esophagogastric varices and hepatic encephalopathy were markedly improved. Hepatectomy is useful as a reliable therapy for arterioportal fistula in case of failure of transarterial embolization.     

A case of Osler-Weber-Rendu syndrome: therapeutic embolization of the pulmonary artery and bronchial artery]

We encountered a case in which the symptoms of hypoxia and hemoptysis improved after performing repeated pulmonary artery embolizations and bronchial artery embolization. A 22-year-old man was hospitalized in our institution with high fever, headache and unconsciousness in May of 2001. Subendocranial abscess was diagnosed, so we performed antibiotic therapy and drainage, but at that time he showed symptoms of hypoxia. We diagnosed Osler-Weber-Rendu syndrome because of multiple small nodular shadows in his chest CT, multiple arteriovenous fistulae in both lungs on pulmonary arteriography, and telangiectasis. We performed pulmonary artery embolization 6 times, and his hypoxia and right to left shunts improved. In the course of our therapy, hemoptysis appeared and dilatation of vessels was detected in the left bronchial arteriography, so we performed embolization of the left bronchial artery and the symptom improved. We concluded that we should take care to detect not only pulmonary arterial lesions but also bronchial arterial leisions in the diagnosis and therapy of respiratory symptoms of Osler-Weber-Rendu syndrome.     

Hepatic vascular malformations in hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that can involve the liver diffusely in the form of vascular malformations ranging from small telangiectases to discrete arteriovenous malformations. Anatomically, three different patterns of abnormal vascular communications can occur in liver: portal vein to hepatic vein (portovenous), hepatic artery to hepatic vein (arteriovenous) and hepatic artery to portal vein (arterioportal), with the most common being arteriovenous. Only 5 to 8% of patients with these vascular malformations are symptomatic. When symptomatic, patients present with high-output cardiac failure, biliary ischemia (which, when severe, can progress to biliary and hepatic necrosis and lead to acute liver failure), or portal hypertension. Other less common presentations include portosystemic encephalopathy and abdominal angina. Diagnosis is confirmed by Doppler ultrasonography or multidetector computed tomography. The hallmark findings are intrahepatic hypervascularization and an enlarged common hepatic artery. Focal nodular hyperplasia and nodular regenerative hyperplasia are common findings. Symptomatic patients are treated with intensive medical treatment aimed at the predominant clinical presentation. Patients who fail aggressive medical therapy and those with acute biliary/hepatic necrosis should be considered for liver transplantation.     

Portal hypertension induced by congenital hepatic arterioportal fistula:Report of four clinical cases and review of the literature

Intrahepatic arterioportal fistula(IAPF)can be caused by many secondary factors.We report four cases of portal hypertension that were eventually determined to be caused by congenital hepatic arterioportal fistula.The clinical manifestations included ascites,variceal hemorrhage and hepatic encephalopathy.Computed tomography scans from all of the patients revealed the early enhancement of the portal branches in the hepatic arterial phase.All patients were diagnosed using digital subtraction angiography(DSA).DSA before embolization revealed an arteriovenous fistula with immediate filling of the portal venous radicles.All four patients were treated with interventional embolization.The four patients remained in good condition throughout follow-up and at the time of publication.IAPF is frequently misdiagnosed due to its rarity;therefore,clinicians should consider IAPF as a potential cause of non-cirrhotic portal hypertension.     

Intrahepatic transtumoral arteriovenous fistulae (diagnosis, importance, therapeutic proposals)

The authors present the angiographic aspects of four patients having an arteriovenous transhepatic transtumoral fistula (two arterioportal and two arteriovenous). The angiographic results of the occlusion with cyanoacrylate (Hystoacryl) of the right hepatic artery in one and by the infusion of Lipiodol in two are also shown. The physiopathological characteristics of each kind of fistula are discussed and the consequences of the passage of the quimioembolizing mixture through the tumor, regarding intrahepatic abscess formation, irregular clinical results and pulmonary complications are commented. These complications make the diagnosis of a transtumoral transhepatic arteriovenous fistula, previously to the chemoembolic treatment important, even though being frequently difficult, because of the reduced caliber of the feeding artery and eventual low transfistular bloodflow. The efficient occlusion of the arterioportal fistula with Histoacryl was favourably compared to the infusion of Lipiodol, which was unable to occlude the arteriovenous fistula. The contraindication to perform chemoembolic treatment of hepatic tumors, when an intrahepatic transtumoral arteriovenous fistula is present and the embolization of the fistular feeding artery is stressed. Ultrasonography using color Doppler and sono-enhancing contrast is appointed as the ideal non-invasive means of making the diagnosis of an hepatic transtumoral fistula and makes it eligible to be the first test in the algorithm for the appraisal of hepatic tumors.     

Multiple pulmonary arteriovenous malformations associated with hereditary hemorrhagic telangiectasia]

A 61-year old asymptomatic woman was admitted to our hospital for the examination of an abnormal shadow in the left lower lung lobe in 1978. Enhanced chest computed tomograms and pulmonary arteriograms revealed a pulmonary arteriovenous malformation (PAVM) composed of feeding artery and draining vein. The patient had suffered brain abscesses 3 times because of paradoxical emboli from PAVMs. A diagnosis of hereditary hemorrhagic telangiectasia (HHT) was made according to the criteria. The patient died of septic shock due to urinary tract infection by Candida albicans. We reviewed cases of PAVMs associated with HHT in the Japanese literature. In Japan, 126 HHT families and 144 HHT patients have been reported to date. PAVMs occur in approximately one-third of HHT patients in Japan. Twenty-four out of 45 patients (44.4%) had multiple PAVMs. We also discussed the diagnosis, complications, and treatment of PAVM-associated HHT.     

Intrapleural rupture of an pulmonary arteriovenous fistula]

We describe a case of intrapleural rupture of pulmonary arteriovenous fistula and review is such cases previously reported in Japan. A 57-year-old woman was admitted with a sudden onset of right chest pain. Chest radiograph on admission showed right pleural effusion. Thoracentesis revealed hemothorax and subsequently the patient complained of dizziness and went into shock. Chest CT scan revealed a well-defined nodule with a continuous enlarged vessel. Enhanced CT findings suggested a diagnosis of pulmonary arteriovenous fistula projecting into the intrapleural space from the right lower lung. Partial resection of the right lower lung was performed and the histological study confirmed the final diagnosis.     

Atypical liver hemangioma with shunt: long-term follow-up

With a cavernous hemangioma the vascular space does not form an anastomosis, and the blood flow is slow. In contrast, several atypical hemangiomas, including those with shunt formation, have been recently recognized. We report here two extreme cases of atypical hemangioma with severe clinical symptoms due to shunts. In the first case, hemangiomatosis of the entire liver with arteriovenous shunt was treated by embolization of the hepatic artery with as many as 82 steel coils to control high‐output heart failure. Although the effect of the treatment was late, the patient is free from heart failure despite a remnant arteriovenous shunt 12 years after treatment. In the second case, an atypical hemangioma in the posterior segment with arterioportal and portosystemic shunt was treated by ligation of the right hepatic artery and the portal vein branch. The patient died of massive bleeding from a deep duodenal ulcer that penetrated the hepatic artery 6 years after treatment. The second case should have been curatively treated only by liver transplantation. It should be noted that there are atypical hemangiomas with shunt that are difficult to treat and cause fatal clinical symptoms and complications.     

Ruptured high flow gastric varices with an intratumoral arterioportal shunt treated with balloon-occluded retrograde transvenous obliteration during temporary balloon occlusion of a hepatic artery

INTRODUCTIONHematemesis of ruptured high ? ow gastric varices from intratumoral arterioportal shunt is a critical condition. The transjugular intrahepatic portosystemic shunt (TIPS)[1-2] and percutaneous transhepatic obliteration (PTO) are contraindicatio…     

Gastric variceal bleeding caused by an intrahepatic arterioportal fistula that formed after liver biopsy: a case report and review of the literature

An intrahepatic arterioportal fistula is a rare cause of portal hypertension and variceal bleeding. We report on a patient with an intrahepatic arterioportal fistula following liver biopsy who was successfully treated by hepatectomy after unsuccessful arterial embolization. We also review the literature on symptomatic intrahepatic arterioportal fistulas after liver biopsy. A 48-year-old male with bleeding gastric varices and hepatitis B virus-associated liver cirrhosis was transferred to our hospital; this patient previously underwent percutaneous liver biopsies 3 and 6 years ago. Abdominal examination revealed a bruit over the liver, tenderness in the right upper quadrant, and splenomegaly. Ultrasonographic examination, computed tomography, and angiography confirmed an arterioportal fistula between the right hepatic artery and the right portal vein with portal hypertension. After admission, the patient suffered a large hematemesis and developed shock. He was treated with emergency transarterial embolization using microcoils. Since some collateral vessels bypassed the obstructive coils and still fed the fistulous area, embolization was performed again. Despite the second embolization, the collateral vessels could not be completely controlled. Radical treatment involving resection of his right hepatic lobe was performed. For nearly 6 years postoperatively, this patient has had no further episodes of variceal bleeding.     

Symptomatic hepatic arterioportal shunt resolved through conservative treatment

Arterioportal shunt in the liver is a rare vascular disorder that may be due to congenital vascular malformation (hereditary hemorrhagic telangiectasia), trauma, iatrogenic causes (after a hepatic biopsy) or neoplasm. Initial treatment consists of transcatheter arterial embolization with different kinds of materials. We present the case of a 64-year-old woman with signs of portal hypertension and severe diarrhea. Doppler ultrasonography, computed tomography and angiography revealed arterioportal fistulae between the hepatic artery and right portal vein. Transcatheter arterial embolization with n-butyl-2-cyanoacrylate surgical glue (Glubran) was successfully performed. After 2 years of follow-up, the patient remains asymptomatic. Transcatheter arterial embolization with Glubran should be considered as a therapeutic option in arterioportal shunts and could be a definitive therapy.     

Two-dimensional contrast echocardiography in pulmonary arteriovenous fistula

Definitive clinical diagnosis of congenital pulmonary arteriovenous fistula is extremely difficult. In order to evaluate the diagnostic value of echocardiography, 2 cases with suspected pulmonary arteriovenous fistula were studied. In the first case, there was a solitary pulmonary arteriovenous fistula, while in the second multiple minute pulmonary arteriovenous fistulas were illustrated. The solitary lesion was demonstrated by two-dimensional and peripheral vein contrast echocardiography. However, in the second case direct visualization of the lesion was not possible but peripheral vein contrast echocardiography showed abnormal filling of the left atrium with echo contrast material.     

Hemobilia and other complications caused by percutaneous ultrasound-guided liver biopsy

Hemobilia accounts for approximately 3%of all major percutaneous liver biopsy complications,and rarely results from arterioportal fistula.We report a patient who suffered from four complications over 11 d after ultrasound-guided percutaneous liver biopsy:hemobilia,acute pancreatitis,acute cholecystitis,and multiple stomach ulcers.Digital subtraction angiography was done after consultation with doctors,and showed obvious arteriovenous fistula of the right liver.The hepatic artery was selected and embolized by spring orbs.The active bleeding was stopped after embolization of the hepatic artery.The patient was discharged home on day 12 after embolization and remained well.     

A case of bilateral coronary artery to pulmonary artery fistulas associated with hepatic arteriovenous fistula

A 55-year-old man, previously treated for primary hypothyroidism, was admitted for evaluation of atypical chest pain. On physical examination, the pulse rate was 60 and blood pressure was 132/84 mmHg. Heart sounds were normal and no murmur was heard. Abdominal palpation showed no abnormal finding, and bruit was not heard. The electrocardiogram was normal and stress-induced ischemia was not found. The chest X-ray showed no sign of pulmonary hyperaemia or mass lesion, and central shadow was normal (CTR = 44%). During right heart catheterization, the pressures were normal in the cardiac chambers, pulmonary artery, and wedge position. A significant increase in oxygen saturation was disclosed at pulmonary artery level (10%) and the upper site of the inferior vena cava (22%). Coronary arteriography found coronary artery fistulas from the left main trunk, the left anterior descending artery, the left circumflex, and the right coronary artery to the pulmonary trunk. The left and right ventriculograms were normal. The digital subtraction angiography of celiac artery showed hepatic arteriovenous fistula. Ultrasonography and computed tomography found no mass lesion of the liver. Since combination of the bilateral coronary artery with pulmonary artery fistula, and hepatic arteriovenous fistula is very rare, the present case is worth noting for the investigation of the pathogenesis of congenital arteriovenous fistulas.     

A case of multiple pulmonary arteriovenous fistulae associated with hereditary hemorrhagic telangiectasia that deteriorated during pregnancy]

A 29-year-old woman was admitted to our hospital because of persistent breathlessness on exertion after the delivery of her second child. Although at the age of 26 she had been given a diagnosis of multiple pulmonary arteriovenous fistula (PAVF), treatment was not done because of the absence of symptoms. An intrauterine growth retardation (IUGR) due to hypoxemia occurred during the second pregnancy, and then she delivered a 1,283g baby by cesarean section in the 36th gestation week. Her symptoms and hypoxemia improved after transcatheter embolization. Hereditary hemorrhagic telangiectasia was diagnosed on the basis of recurrent epistaxis since her childhood, pulmonary and hepatic vascular abnormality (PAVF and hepatic arterioportal shunt) and telangiectasis of the buccal mucosa and tongue. We should consider an early treatment of PAVF for young female because pregnancy may induce increase of arteriovenous shunt, fatal hemoptysis, infertility, miscarriage and IUGR.     

Liver involvement in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). Report of one case and review of the literature

INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia; mutations in at least three genes (ENG, ACVRL1 et MADH4), which are components of transforming growth factor (TGF)-beta, may lead to the clinical picture of HHT. HHT is a multisystemic angiodysplasia, resulting in multiple vascular malformations, involving notably the liver. EXEGESIS: We report the case of a patient with anicteric cholestasis, revealing HHT. Abdominal CT-scan revealed hepatic artery dilation and multiple arteriovenous fistula. At 2-year follow-up, the patient exhibited liver involvement-associated high output cardiac insufficiency. CONCLUSION: Liver involvement is frequent in HHT, occurring in 8-31% of patients; it may lead to life-threatening complications, such as high output cardiac failure, portal hypertension or severe cholangitis. Abdominal Doppler ultrasonography is a non-invasive accurate method, suitable for first-line imaging of the liver in patients with HHT; it should be done in all patients, in order to detect HHT-related hepatic vascular malformations.