Osler-Weber-Rendu disease with esophageal varices and hepatic nodular change.
ABSTRACT A 72-year-old male visited our hospital for further evaluation of esophageal varices. Telangiectasias were present in the stomach. He had recurrent epistaxis, which was also confirmed in his family's medical history. We diagnosed this case as Osler-Weber-Rendu disease. He had concomitant with hepatic nodular change. Abdominal angiography showed arterio-portal (A-P) shunts, superior mesenteric artery (SMA)-superior mesenteric vein (SMV) shunt, extension of SMV, and dilated and meandering portal vein. Esophageal varices were treated by endoscopic variceral ligation (EVL) and argon plasma coagulation (APC) therapy for prophylaxis of bleeding.
- New England Journal of Medicine 11/1995; 333(14):918-24. · 51.66 Impact Factor
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ABSTRACT: Arteriovenous malformations of the liver in Osler's disease may present as high output cardiac failure. A few case reports suggested that treatment with arterial embolisation may have beneficial effects in such patients. To investigate the efficacy and safety of this treatment modality in a prospective pilot study. Four women and one man (aged 39-59 years) with the dominant hepatic manifestation of Osler's disease presented with symptoms of cardiac failure and elevated cardiac output. Arteriovenous malformations were treated in three to five sessions with arterial embolisation using coils. The outcome was analysed by measurement of cardiac output and scoring of clinical symptoms. Embolisation was technically feasible in all patients and adequate occlusion of vascular malformations was achieved in four patients. After completion of therapy symptoms improved in four patients, while one patient suffered from abdominal pain due to cholangitis. One patient died seven months after the embolisation treatment from variceal bleeding. Mean cardiac output significantly decreased from 14.2 (range 12-17.3) l/min to 8 (range 5.9-10.6) l/min (p = 0.043). After a median follow up of 23 months (range 7-50 months), three of five patients had a long lasting improvement of clinical symptoms and cardiac function. This first treatment series of patients with dominant hepatic involvement in Osler's disease indicates that arterial embolisation may prevent cardiac failure by significantly lowering cardiac output.Gut 01/1998; 42(1):123-6. · 10.73 Impact Factor
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ABSTRACT: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations (AVMs) in multiple organ systems. These AVMs may cause serious complications when they are located in the lungs, liver, or brain. The prevalence of AVMs in patients with HHT might be higher than previously estimated. Nowadays, treatment is often possible. In some families, mutations have been shown in the gene encoding for a transforming growth factor receptor, endoglin. Genetic heterogeneity has been demonstrated, suggesting involvement of other transforming growth factor receptors. This might explain the variable clinical expression of the disease. In view of the high prevalence of pulmonary and cerebral AVMs, all patients with HHT should be screened for their presence, and relatives of patients with HHT should be investigated for presence of the disease.Archives of Internal Medicine 05/1996; 156(7):714-9. · 11.46 Impact Factor