Syndromes Rendu-Osler

Telangiectasias are collections of dilated capillaries that are usually of no clinical significance (Milandre et al. 1987). They may be associated with hereditary hemorrhagic telangiectasia (the Osler-Weber-Rendu syndrome), but this is more likely to be associated with neurological complications from a pulmonary arteriovenous malformation with right-to-left shunting, such as cerebral hypoxia, brain abscess, paradoxical and septic embolism, or from an associated intracranial arteriovenous malformation or aneurysm (McDonald et al. 1998). 

McDonald MJ, Brophy BP, Kneebone C (1998). Rendu-Osler-Weber syndrome a current perspective on cerebral manifestations. Journal of Clinical Neuroscience 5 345-350... 

S.Begbie ME, Wallace GMF, Shovlin CL (2003) Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) a view from the 21st century. Postgrad Med 79 18-24... 

Purdy PD, Batjer HH, Samson D et al. (1991b) Intra-arterial sodium amytal administration to guide pre-operative embolization of cerebral arteriovenous malformations. J Neurosurg Anesth 3 103-106 Putman CM, Chaloupka JC, Fulbright RK et al. (1996) Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). AJNR Am J Neuroradiol 17 1733-1742... 

AVMs of the abdominal viscera are uncommon, but when they do occur, they have an increased probability of bleeding due to the proximity to mucosa. True AVMs of the liver in the newborn will present with a dinical picture similar to hepatic hemangioen-dothdioma already discussed. Pancreatic AVMs [40, 41[ are usually assodated with Osler-Weber-Rendu syndrome. Splenic vascular malformations are usually asymptomatic and found incidentally at autopsy. They can also present with splenomegaly, pain, bleeding, portal hypertension, and hypersplenism [42[. Vascular malformations of the kidney are rare. 

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. 

Benign small bowel neoplasms are often associated with multi-organ syndromes such as Osler-Weber-Rendu (telangiectatic arteriovenous fistu-... 

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. 

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