Pulmonary Hypertension as an Initial Presentation of Wilson’s Disease: A Case Report

F. Rezaeetalab, Mahnaz Mozdourian
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Abstract

Wilson’s disease is a rare genetic disorder, which is associated with clinical manifestations such as liver dysfunction, psychological and neurological issues, and specific laboratory findings demonstrating the increased urinary excretion of copper and copper accumulation in the body. Wilson’s disease is occasionally presented by atypical features, which delay the diagnosis of this rare disorder. This study aimed to describe the case of a patient with pulmonary and portal hypertension as a primary manifestation of Wilson’s disease. A young male patient was admitted to the emergency department due to the deterioration of respiratory symptoms and overall weakness. The patient had a history of dyspnea and fatigue, which was diagnosed as idiopathic pulmonary hypertension. In the previous admission, the liver function test of the patient was not disrupted, and serum/urinary copper and ceruloplasmin levels were normal. In the current admission, the patient had elevated bilirubin and enzyme levels, as well as abnormal copper and ceruloplasmin levels. Moreover, portal hypertensive gastropathy and Kayser-Fleischer ring were detected in further investigations, confirming the diagnosis of Wilson’s disease. To the best of our knowledge, this was the first report on Wilson’s disease initially presented with pulmonary and portal hypertension.
以肝豆状核变性为首发表现的肺动脉高压一例报告
威尔逊氏病是一种罕见的遗传性疾病,其临床表现为肝功能障碍、心理和神经问题,以及特定的实验室结果显示尿中铜排泄增加和体内铜积聚。威尔逊氏病偶尔表现为非典型特征,这延迟了这种罕见疾病的诊断。本研究旨在描述一个以肝豆状核变性为主要表现的肺动脉高压和门静脉高压患者的病例。一名年轻男性患者因呼吸系统症状恶化及全身虚弱而入院急诊科。患者有呼吸困难和疲劳病史,诊断为特发性肺动脉高压。入院前,患者肝功能检查未中断,血清/尿铜和铜蓝蛋白水平正常。在目前入院时,患者胆红素和酶水平升高,铜和铜蓝蛋白水平异常。进一步检查发现门脉高压性胃病和Kayser-Fleischer环,证实威尔逊病的诊断。据我们所知,这是第一篇以肺动脉高压和门静脉高压为首发表现的威尔逊氏病的报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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