Hereditary telangiectasia and multiple pulmonary arteriovenous fistulas. Clinical deterioration during pregnancy

We describe the effect of pregnancy on a woman with multiple pulmonary arteriovenous fistula. Pregnancy was terminated at 35 weeks' gestation because of severe hypoxemia. During the early postpartum period, the intrapulmonary shunt fraction enlarged, and hypoxemia worsened, necessitating emergency resection of the A-V fistula. Pregnancy may increase the intrapulmonary shunt fraction in patients with multiple pulmonary arteriovenous fistula through its effect on plasma volume and produce life-threatening hypoxemia near term or in the early postpartum period.     

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.     

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.     

Hereditary hemorrhagic telangiectasia with liver involvement

Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia, is characterized by vascular alterations that tend to hemorrhage. We present a 56-year-old woman, with a diagnosis of chronic liver disease of unknown origin 15 years earlier, who came to our hospital as a liver transplantation candidate following hemorrhage due to esophageal varices. Rendu-Osler-Weber syndrome can affect the liver in several ways although vascular alterations can be distinguished from those produced in the liver parenchyma. The different types of vascular alterations in the liver may manifest as as telangiectasias, angiomas, aneurysms of the hepatic artery and fistulae between different vessels. This syndrome may also produce alterations in the liver parenchyma although the exact pathogenic mechanisms are unknown. There are three main forms of treatment: embolization of the branches of the hepatic artery, ligature of the hepatic artery and liver transplantation.     

Recurrence of pulmonary arteriovenous malformations in a female with hereditary hemorrhagic telangiectasia

Pulmonary arteriovenous malformations (AVMs) are an uncommon disorder and may cause life-threatening complications if left untreated. The paucity of good longitudinal data on patients with pulmonary AVMs can be a significant challenge clinically. The authors report a case of recurrence of pulmonary AVMs in a young female with hereditary hemorrhagic telangiectasia (HHT) subjected to transcatheter embolotherapy (TCET) in 1995. Recurrence of pulmonary AVMs was suspected because of marked impairment of oxygenation in 1997 and in 2000, while the patient was pregnant, and later confirmed by imaging studies in early 2003. Despite successful embolization of all visible pulmonary AVMs, contrast echocardiography suggested the presence of intrapulmonary shunt. A shunt of 11.4% was measured using a 100% oxygen test. Loss of flow pattern was the immediate change of pulmonary AVMs after TCET shown by chest sonography. A decrease in the size of the pulmonary AVMs was observed 6 weeks later. This case illustrates the clinical relevance of longitudinal monitoring of arterial blood gases in screening for the recurrence of pulmonary AVMs, particularly in patients with HHT, and the roles of chest sonography and contrast echocardiography in monitoring the efficiency of TCET.     

Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia

Pulmonary arteriovenous malformations (PAVMs) associated with hereditary hemorrhagic telangiectasia may cause severe cerebral complications that may be prevented by embolization therapy. We retrospectively compared the diagnostic value of noninvasive tests for the screening of treatable (amenable to embolization) PAVMs in a series of 105 patients, using chest computerized tomography (CT) and/or pulmonary angiography as a "gold standard." Patients had assessment of dyspnea, chest radiograph, alveolar-arterial PO2 gradient under 100% oxygen (AaPO2), contrast echocardiography, and radionuclide perfusion lung scanning. Contrast echocardiography in the supine position was the most sensitive test (93%). The sensitivity of self-reported dyspnea (59%), chest radiograph alone (70%), measurement of AaPO2 by the 100% oxygen method (62%), or radionuclide lung scanning (71%), was not suitable for efficient screening. A 100% sensitivity and negative predictive value could be obtained when combining anteroposterior chest radiograph and contrast echocardiography. Our data support a screening algorithm based on the combined use of contrast echocardiography and anteroposterior chest radiograph, followed by chest CT if either test is positive. An alternative is to screen directly by chest CT. However, this algorithm may obviate the need for chest CT in patients without PAVM, who represent a majority of patients with hereditary hemorrhagic telangiectasia.     

Identical twins with hereditary hemorrhagic telangiectasia concordant for cerebrovascular arteriovenous malformations

Central nervous system arteriovenous malformations are uncommon in hereditary hemorrhagic telangiectasia. Identical twins are described with hereditary hemorrhagic telangiectasia and concordance for central nervous system arteriovenous malformations identified by angiography. One twin had a central nervous system hemorrhage in the seventh month of pregnancy and also had a pulmonary arteriovenous malformation. The other was asymptomatic. A previously reported association between HLA type A2 BW17 and hereditary hemorrhagic telangiectasia was not confirmed. Two recombinations were identified between the loci for HLA and hereditary hemorrhagic telangiectasia. The loci for HLA and hereditary hemorrhagic telangiectasia are not closely linked. Stroke in a young person should prompt an inspection for manifestations of hereditary hemorrhagic telangiectasia.