Rendu-Osler-Weber disease

AVMs typically present as solitary lesion. Multiple brain AVMs occur in approximately 0.3%-3.2% of all cases. Surprisingly enough, Willinsky et al. (1990) reported 11 cases of multiple AVMs among 203 patients (6%). Although multiple AVMs may occur spontaneously, they are frequently associated with cutaneous or extracranial vascular anomalies (Salcman et al. 1992), such as Rendu-Osler-Weber disease and Wyburn-Mason syndrome. However, the clinical mode of presentation, age and sex of the patient, and anatomic distribution of the lesions are the same as those in patients with single arteriovenous malformations. 

Rendu-Osler-Weber disease - also known as hereditary hemorrhagic telangiectasia (HHT) - is a... 

Aberfeld DC, Rao KR (1981) Familial arteriovenous malformation of the brain. Neurology 31 184-186 Aesch B, Lioret E, deToffel B et al. (1991) Multiple cerebral angiomas and Rendu-Osler-Weber disease case report. Neurosurgery 29 599-602... 

H. Osler-Weber-Rendu disease Visualizing portovenous shunting with three-dimensional sonography. Amer. J. Roentgenol. 2001 176 919-920... 

Weik, C., Greiner, L. The hver in hereditary hemorrhagic telangiectasia (Weber-Rendu-Osler disease). Scand. J. Gastroenterol. 1999 34 1241-1246... 

Pulmonary AVMs can occur sporadically (15%) or as part of the autosomal dominant disorder (60%-90%) known as Osler-Weber-Rendu syndrome or Hereditary Hemorrhagic Telangiectasia (an autosomal dominant disease characterized by telangiecta-... 

AVM can be associated with hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. It is an autosomal dominant inherited disease of the vascular connective tissue characterized by epistaxis, telangiectasia, and visceral arteriovenous malformation. The organs mostly affected are the lungs (Fig. 23.8a-c), liver, brain, and the gastrointestinal tract. HHT is difficult to treat and requires a multidisciplinary approach for its management. 

Vascular abnormalities may be incidental findings but are also seen in various diseases such as von Willebrand s disease, collagenous diseases, and Osier-Weber-Rendu syndrome. They are also associated with aortic stenosis, post-irradiation situations, and chronic renal failure. The telangiectases associated with Osler-Weber-Rendu syndrome have a predilection for the gastric body and caecum. 

Vascular abnormalities in the duodenum are much the same as in other parts of the GIT. Hemangiomas are quite commonly seen, and the telangiectases in patients with Osler-Weber-Rendu disease have the same features as elsewhere in the body. Varices are seen in patients with portal hypertension and in those with advanced tumour growth obstructing the normal venous drainage. 

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