Fariba Rezaeetalab; Mahnaz Mozdourian
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 ...
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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.