- 期刊
Osler-Weber-Rendu症候群合併胰臟血管瘤及急性胰臟炎之病例分析
Case Report: A patient of Osler-Weber-Rendu Syndrome with Pancreas Hemangioma and Acute Pancreatitis
摘要
Osler-Weber-Rendu症候群，又稱為遺傳性出血性毛細血管擴張症(hereditary hemorrhagic telangiectasia, HHT)，是一種全身性的血管構造異常疾病，其中以腦部及肺部病灶的出血最容易造成病人的臨床疾病及死亡。以體染色體顯性(autosomal dominant)方式遺傳，近來研究發現可能與染色體9q33-q34或染色體12q之異常有關。 根據Curacao之診斷標準Osler-Weber-Rendu症候群的確定診斷必須符合下列三個條件及以上：(1)自發性反覆的流鼻血(2)鼻腔黏膜以外之毛細血管擴張病灶(3)內臟病灶(4)體顯性家族遺傳病史｡診斷方式以使用染色體檢查最為準確，但臨床上會有很多限制，詳細家族史或許對診斷有更大的幫助。 本案為Osler-Weber-Rendu症候群病史之病人，此次疑胰臟發炎住入本院，檢查發現胰臟有多發性血管豐富之結節(hypervascular nodules)但無一般胰臟炎的影像學變化，因此懷疑胰臟發炎與Osler-Weber-Rendu症候群有關。由於文獻上並無Osler-Weber-Rendu症候群出現胰臟病灶及合併胰臟炎的病例報告，因此提出此病例作為臨床醫師的參考，並對這種比較罕見的疾病提供更多臨床研究及診斷資料。
關鍵字
無資料並列摘要
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.
延伸閱讀
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