Doppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive Screening

AIMS: In previous studies, the prevalence of hepatic vascular malformations (VMs) in a large Italian family with hereditary hemorrhagic telangiectasia (HHT) was examined by Doppler ultrasonography (US) as screening technique, and the relevant Doppler US findings were described and classified. Thereafter, Doppler US has been routinely used to screen HHT families for liver involvement. Hepatic VMs were evaluated and classified on the basis of Doppler US findings. METHODS: Three hundred and forty-six subjects belonging to 64 pedigrees were checked for the presence of signs of HHT. All of them underwent abdominal Doppler US screening for hepatic VMs. Vascular abnormalities were classified as minimal if the hepatic artery was dilated in extrahepatic tract only and measured > 6 mm; as moderate if the hepatic artery was dilated in both intra and extrahepatic tract; and as severe if complex changes of the arterial hepatic branches were associated with hepatic and/or portal vein dilatation. Furthermore, Doppler parameters, both qualitative (flow direction, turbulence) and quantitative (peak flow velocity and resistivity index in hepatic artery, mean velocity in portal vein, diastolic peak flow velocity in hepatic veins), were entered into our VM classification. RESULTS: HHT was found in 222 subjects, with hepatic VMs detected by Doppler US in 92 (41.4 %) (24 males, 68 females, mean age 52.2). Hepatic VMs were minimal in 11 subjects, moderate in 70, and severe in 11. CONCLUSIONS: On the basis of our proposed grading, hepatic VMs can be easily classified in subjects with HHT by Doppler US. Depending on the degree of hepatic vascular derangement, appropriate programs for follow up and/or therapy can be designed.