Liver in hereditary hemorrhagic teleangiectasia

Hereditary hemorrhagic teleangiectasia, or Rendu-Osler-Weber syndrome, is a n autosomal dominant inherited disease characterized by vascular derangemen t in many organs. The vascular derangement includes teleangiectases, arteri ovenous fistulas and aneurysms. Liver involvement in hereditary hemorrhagic teleangiectasia is a rare and sometimes severe disease which was unknown a nd mostly detected at autopsy until a few decades ago. Typical findings are vascular malformations and connective tissue formation with fibrosis and a typical cirrhosis. In the last years we observed five Osler patients with e xclusive or prevailing involvement of the liver. An unambiguous diagnosis c an be ascertained by means of a hazardous liver puncture with typical histo logical findings. Angiography allows a reliable identification of even mino r vascular deformities. Toe present study was undertaken to demonstrate the courses of disease, the techniques of examination and the therapeutical op tions of this rare manifestation of Osler-disease. In every case one could observe hepatic malformations which were established as typical Osler findi ngs with the assistance of histological and above all sonographical/color-D oppler-sonographical devices. These special sonographic/color-Doppler-sonog raphic features make it possible to give up the histological diagnostics or exhaustive investigations by means of angiography computertomography or MR I.