Osler-Weber-Rendu症候群合併胰臟血管瘤及急性胰臟炎之病例分析

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia (HHT), is a generalized abnormality of vascular structure. Bleeding from the cerebral or pulmonary lesions is the major cause of substantial morbidity and mortality. The mode of inheritance is autosomal dominant. Recent studies had found mutation in endoglin, a receptor for transforming growth factor β, on chromosome 9 in some families and linkage to chromosome 12q in others was related to the disease. The clinical diagnosis of Osler-Weber-Rendu syndrome is the presence of any three of the following criteria: recurrent epistaxis; telangiectasia elsewhere than in the nasal mucosa; evidence of autosomal dominant inheritance; and visceral involvement. DNA-based diagnostics may be the most accurate way though some limitation exists in clinical practice. Detailed family history up to multigenerational pedigree will be helpful for the diagnosis. We present a patient of Osler-Weber-Rendu syndrome who was admitted to our ward due to clinical presentation of acute pancreatitis. Multiple hypervascular nodules were accidentally found in pancreas in image studies. Since there was no identifiable etiology of pancreatitis in this patient and multiple hypervascular nodules were found in the pancreas, HHT related pancreatitis was highly suspected. As there was no previous report on HHT related pancreatitis in the literature. We hoped that this case can provide some information and assist in diagnosis of this rarely encountered disease.