Hepatic vascular malformations in hereditary hemorrhagic telangiectasia: Doppler sonographic screening in a large family

Background/Aims: The prevalence of hepatic vascular malformations in hereditary hemorrhagic telangiectasia has been estimated in the literature on clinical criteria, thus giving unreliable data. In our study the presence of hepatic vascular malformations in hereditary hemorrhagic telangiectasia was evaluated in a large Italian family by using Doppler sonography as screening technique. Doppler sonographic findings were compared to computed tomography and angiography results. Clinical features were related to the severity of hepatic vascular malformations. Methods: Seventy-three relatives were checked for the presence of signs of hereditary hemorrhagic telangiectasia. Abdominal Doppler ultrasonography was performed in all of them. Every subject with a positive Doppler ultrasonography for hepatic vascular malformations underwent abdominal computed tomography and celiac angiography. Results: Forty family members proved to be affected by hereditary hemorrhagic telangiectasia. Of these, hepatic vascular malformations were evidenced by Doppler ultrasonography in 13 females. Doppler ultrasonography demonstrated minimal hepatic vascular abnormalities in three subjects, moderate in three, and severe in seven. Doppler study was diagnostic for arteriovenous shunt with hepatic veins in seven cases and with portal vein in two. Computed tomography failed to demonstrate hepatic vascular malformations in two cases, while angiography confirmed the Doppler sonographic findings in all cases. Cardiac failure was present in only one case. Cholestasis was present in subjects with moderate and severe hepatic vascular malformations. Conclusions: Doppler sonography is the ideal imaging technique to screen hereditary hemorrhagic telangiectasia affected families for hepatic vascular malformations. These malformations do not appear to be age-dependent, but sex-dependent. Cholestasis is the main clinical sign, and it seems to correlate with the severity of hepatic vascular derangement.