[The liver and hereditary hemorrhagic telangiectasia].
Hereditary hemorrhagic teleangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant inherited disease characterized by vascular derangement in many organs. The vascular derangement includes teleangiectases, arteriovenous fistulas and aneurysms. Liver involvement in hereditary hemorrhagic teleangiectasia is a rare and sometimes severe disease which was unknown and mostly detected at autopsy until a few decades ago. Typical findings are vascular malformations and connective tissue formation with fibrosis and atypical cirrhosis. In the last years we observed five Osler patients with exclusive or prevailing involvement of the liver. An unambiguous diagnosis can be ascertained by means of a hazardous liver puncture with typical histological findings. Angiography allows a reliable identification of even minor vascular deformities. The present study was undertaken to demonstrate the courses of disease, the techniques of examination and the therapeutical options of this rare manifestation of Osler-disease. In every case one could observe hepatic malformations which were established as typical Osler findings with the assistance of histological and above all sonographical/color-Doppler-sonographical devices. These special sonographic/color-Doppler-sonographic features make it possible to give up the histological diagnostics or exhaustive investigations by means of angiography, computer-tomography or MRI.
Weik
C
C
Medizinische Klinik A, Klinikum Wuppertal GmbH, Universität Witten/Herdecke.
Johanns
W
W
Janssen
J
J
Greiner
L
L
D000792:Angiography; D001707:Biopsy, Needle; D001783:Blood Flow Velocity / Q000502:physiology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008099:Liver / Q000098:blood supply* / Q000473:pathology; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008107:Liver Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018615:Ultrasonography, Doppler, Color