[Universal organ involvement in Rendu-Osler-Weber disease: interdisciplinary diagnosis and interventional therapy]

Abstract

A case of hereditary hemorrhagic teleangiectasia (HHT, Morbus Rendu-Osler-Weber) in a 63-years-old patient presenting with recurrent gastrointestinal and nasopharyngeal bleeding who required transfusion of 100-200 units of red blood cell concentrate a year is reported. Endoscopically, one source of bleeding could be located in the upper part of the jejunum. Multiple Osler spots were found in the antrum, the bulbal and descending part of the duodenum without signs of bleeding. Colonoscopy revealed no further lesions. Selective mesentericography visualized dilatation of the arterial arcardes in the duodenal region with early venous filling. During coeliacography, parenchymal deposits of contrast medium appeared in the liver. Numerous angiodysplastic arterial alterations from the lower ethmoidal arteria were shown to be another source of bleeding. They were embolized using microspheres and thereby terminating epistaxis. Termination of epistaxis was the crucial prerogative for the consecutive aortal valve replacement. At abdominal ultrasound, the liver harbored multiple anechoic lesions and a bigger cystic formation with portal inflow and early venous distribution. This teleangiectatic portovenous-malformation was confirmed on abdominal computertomography and on T1-enhanced images of MRT, too. This case examplifies the universal character of organ distribution in HHT and underlines the value of complementary diagnostic and therapeutic modalities.