HEPATIC VASCULAR MALFORMATIONS IN HEREDITARY HEMORRHAGIC TELANGIECTASIA - DOPPLER SONOGRAPHIC SCREENING IN A LARGE FAMILY

Background/Aims: The prevalence of hepatic vascular malformations in h ereditary hemorrhagic telangiectasia has been estimated in the literat ure on clinical criteria, thus giving unreliable data. In our study th e presence of hepatic vascular malformations in hereditary hemorrhagic telangiectasia was evaluated in a large Italian family by using Doppl er sonography as screening technique. Doppler sonographic findings wer e compared to computed tomography and angiography results. Clinical fe atures were related to the severity of hepatic vascular malformations. Methods: Seventy-three relatives were checked for the presence of sig ns of hereditary hemorrhagic telangiectasia. Abdominal Doppler ultraso nography was performed in all of them. Every subject with a positive D oppler ultrasonography for hepatic vascular malformations underwent ab dominal computed tomography and celiac angiography. Results: Forty fam ily members proved to be affected by hereditary hemorrhagic telangiect asia. Of these, hepatic vascular malformations were evidenced by Doppl er 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 arteriov enous shunt with hepatic veins in seven cases and with portal vein in two. Computed tomography failed to demonstrate hepatic vascular malfor mations in two cases, while angiography confirmed the Doppler sonograp hic findings in all cases. Cardiac failure was present in only one cas e. Cholestasis was present in subjects with moderate and severe hepati c vascular malformations. Conclusions: Doppler sonography is the ideal imaging technique to screen hereditary hemorrhagic telangiectasia aff ected 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.