Dynamic 4D MR angiography versus multislice CT angiography in the evaluation of vascular hepatic involvement in hereditary haemorrhagic telangiectasia.
ABSTRACT Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber disease, is a rare autosomal dominant disorder characterised by mucocutaneous or visceral vascular abnormalities that may be widely distributed throughout the cardiovascular system. The purpose of this study was to compare multislice computed tomography angiography (MSCTA) and 4D dynamic contrast-enhanced magnetic resonance angiography (D-MRA) for evaluating vascular hepatic involvement in patients with HHT.
Fifty-two consecutive HHT patients underwent MSCTA and D-MRA examinations for systematic analysis of vascular visceral involvement. The images from the two techniques were reviewed independently by two expert radiologists to identify the following vascular abnormalities: telangiectases or large vascular masses; perfusion disorders [transient hepatic attenuation differences (THADs)]; hepatic arteriovenous malformations (HAVMs). Data, as well as diameters of the common hepatic artery and portal vein, were compared with Cohen's kappa statistic, Student's t test and receiver operating characteristic (ROC) curve analysis, as appropriate.
Both MSCTA and D-MRA detected one or more of the following hepatic vascular abnormalities in 36/52 cases (telangiectases in 29/52, THADs in 23/52 and HAVMs in 25/52[CE1]). A good concordance was found between the two techniques when determining the type of hepatic shunt (κ=0.9). No statistically significant differences were found when comparing mean common hepatic artery and portal vein diameters (p=0.09 and 0.22, respectively) and their accuracy in predicting HAVMs.
D-MRA has the same diagnostic accuracy as MSCTA and has the advantage of being less invasive due to the absence of ionising radiation.
- [show abstract] [hide abstract]
ABSTRACT: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease characterized by cutaneous, mucosal, and sometimes visceral arteriovenous malformations. Severe hepatic manifestations have been characterized in a subgroup of patients, but few data are available in previously nonscreened patients. We prospectively evaluated liver involvement and its cardiac consequences in such patients. Between 2000 and 2005, we prospectively evaluated the clinical, biological, and hepatic Doppler sonography (DS) characteristics of 102 consecutive HHT patients (mean age, 52.5 years; range, 19-88; 80.4%) with an identified genetic mutation. Patients were segregated into three different severity groups according to DS values. Factors predictive of an abnormal DS, according to predetermined criteria, and of a high cardiac index were identified by logistic and linear regression analysis, respectively. Abnormal liver biology and clinical signs of hepatic involvement were present in 35.3% and 27.5% of cases, respectively. Abnormal DS (defined as at least enlargement of the main hepatic artery) was observed in 56 (54.9%) cases, and direct or indirect signs of significant fistulas were present in 26 (25.5%) cases. Abnormal liver biology and a mutation involving the ACVRL1 gene were predictive of hepatic ultrasound (US) abnormalities. The diameter of the main hepatic artery and the presence of focal nodular hyperplasia (FNH) were predictive of a higher cardiac index. CONCLUSION: This large prospective series of previously nonscreened HHT patients identified a subgroup at risk of liver involvement (patients with abnormal liver biology and ACVRL1 mutations) and a subgroup with a higher cardiac index: future studies will show whether such patients would benefit from systematic DS screening and long-term cardiac surveillance.Hepatology 12/2008; 48(5):1570-6. · 12.00 Impact Factor
- [show abstract] [hide abstract]
ABSTRACT: Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber (ORW) syndrome, is an autosomal dominant vascular dysplasia. So far, two loci have been demonstrated for ORW. Linkage studies established an ORW locus at chromosome 9q3; endoglin was subsequently identified as the ORW1 gene. A second locus, designated ORW2, was mapped to chromosome 12. Here we report a new 4 cM interval for ORW2 that does not overlap with any previously defined. A 1.38-Mb YAC contig spans the entire interval. It includes the activin receptor like kinase 1 gene (ACVRLK1 or ALK1), a member of the serine-threonine kinase receptor family expressed in endothelium. We report three mutations in the coding sequence of the ALK1 gene in those families which show linkage of the ORW phenotype to chromosome 12. Our data suggest a critical role for ALK1 in the control of blood vessel development or repair.Nature Genetics 07/1996; 13(2):189-95. · 35.21 Impact Factor
- [show abstract] [hide abstract]
ABSTRACT: To describe the magnetic resonance imaging (MRI) features of hepatic involvement in hereditary-hemorrhagic telangiectasia (HHT) and to determine the interobserver agreement for all of them. Twenty-three consecutive patients (including 17 women, mean age: 55 years) with HHT, according to the Curaçao criteria, underwent prospective MRI of the liver, including parenchymal, angiographic and biliary sequences, in one step. The scans were analyzed to determine the presence of vascular, biliary and parenchymal abnormalities (Mann-Whitney U test, kappa). The diameters of the hepatic vessels in the 23 patients were compared with those of 23 subjects with no signs of HHT or vascular or liver disease. MRI of the liver was abnormal in 21 patients with suspected HHT (91%). Vascular abnormalities were found in 21 patients (91%), consisting of marked dilatation of the hepatic artery (N=14), intrahepatic telangiectases (N=21), arteriosystemic venous shunting (N=19), arterioportal shunting (N=11) and aneurysms of the hepatic artery (N=3). Regenerative nodular hyperplasia was identified in 17 patients (74%) and ischemic cholangitis in nine (39%). No such lesions were found in the controls. The diameter of the hepatic artery proper was greater in patients with HHT than in the controls: 8.69+/-1.63 mm versus 5.17+/-0.44 mm, respectively (P<0.05). Good interobserver agreement was found with parenchymal and vascular abnormalities (0.62) and moderate interobserver agreement (0.42) with biliary abnormalities. One-step MRI of the liver appears to be an excellent tool for the evaluation of liver involvement in HHT, revealing vascular abnormalities, telangiectases, arteriovenous shunting, focal-liver lesions and ischemic cholangitis.Gastroentérologie Clinique et Biologique 09/2008; 32(8-9):677-85. · 1.14 Impact Factor