Abstract
BackgroundOsler-Weber-Rendu disease (OWRD) is a rare autosomal dominant genetic disease that causes skin and mucosal telangiectasias and visceral arteriovenous malformations. These shunts can lead to high-output heart failure, portal hypertension, biliary or mesenteric ischemia. We report the case of a patient with OWRD complicated by ischemic cholangitis and biloma.Case presentationA 50-year-old female patient with personal history of spontaneous epistaxis and gingival bleeding, family history of Osler-Weber-Rendu disease (OWRD) in mother, and epistaxis in siblings. She consulted for intermittent and minimal biliary colic. Physical exam found mucocutaneous telangiectasia. Abdominal Doppler ultrasound/CT angiography showed arteriovenous shunts in the liver between hepatic artery and hepatic vein, hepatic artery and portal vein. Other sites of arteriovenous malformations were found in the nostril and jejunum. The diagnosis of OWRD was made. The evolution after 1 year was marked by the appearance of a slight anicteric cholestasis. MRCP found intrahepatic bilomas with associated ischemic cholangitis of segment VII. We decided to continue monitoring only.ConclusionThe management of OWRD is based on screening for visceral arteriovenous malformations and on symptomatic measures that are often disappointing. Ischemic cholangitis is a rare complication, the diagnosis is based on imaging, liver transplantation is the only therapeutic alternative in this cases.
Highlights
Osler-Weber-Rendu disease (OWRD) is a rare autosomal dominant genetic disease that causes skin and mucosal telangiectasias and visceral arteriovenous malformations
The management of OWRD is based on screening for visceral arteriovenous malformations and on symptomatic measures that are often disappointing
Ischemic cholangitis is a rare complication, the diagnosis is based on imaging, liver transplantation is the only therapeutic alternative in this cases
Summary
Osler-Weber-Rendu disease is a vascular disorder with myriad manifestations. Despite a better understanding of the disease, it is still not fully appreciated by clinicians, who often do not recognize the disorder until severe manifestations occur. Ischemic cholangitis is a rare complication where liver transplantation is the only therapeutic alternative. Angiogenesis modulators, such as Bevacizumab, appear to be a promising treatment option for OWRD. This treatment appears to be effective, free of severe side effects, and has improved the prognosis of the disease. These results need to be confirmed by randomized studies.
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