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Journal of Case Reports
Hepatopulmonary Syndrome as the First Manifestation of Wilson Disease

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Durjoy Lahiri, Rakesh Agarwal, Debdeep Mondal, Manoj Kumar Roy, Nirmalendu Sarkar, Jotideb Mukhopadhyay
From the Department of General Medicine, IPGMER and SSKM Hospital, Kolkata-700020, India.
Corresponding Author:
Dr. Durjoy Lahiri
Email: durjoy21288@ymail.com
Received: 03-NOV-2014 Accepted: 09-JAN-2015 Published Online: 30-JAN-2015
DOI: http://dx.doi.org/10.17659/01.2015.0011
Wilson’s disease is considered among the rare etiologies of chronic liver disease. The spectrum of clinical presentation of Wilson disease is broad, the most frequent ones being liver disease and neuro-psychiatric symptoms. An unusual complication of hepatic failure is hepato-pulmonary syndrome, which manifests as dyspnoea and central cyanosis. Wilson disease presenting for the first time as central cyanosis and clubbing is uncommon, which makes this case a reportable one. Here, we report the case of a 20 year old Asian female patient presenting with central cyanosis and clubbing. Clinical examination revealed polycythemia, hypoxemia with orthodeoxia and splenomegaly. No intrinsic cardio-pulmonary disease could be elicited. Bubble contrast echocardiography and X-ray pulmonary angiography revealed the presence of pulmonary arterio-venous fistula. Portal hypertension was detected on ultrasound Doppler of portal vein and endoscopic evidence of large oesophageal varices. Imaging evidence of hepatic fibrosis prompted work up for liver disease. Existence of Kayser-Fleisher ring on slit lamp examination of eyes, reduced serum ceruloplasmin and very high levels of 24 hour urinary copper excretion concluded the diagnosis as Wilson disease and her central cyanosis was attributed to hepato-pulmonary syndrome. This case highlights an unusual presentation of Wilson disease. At the same time, it emphasizes the fact that hepato-pulmonary syndrome may occur without florid clinical manifestation of liver failure and hence needs to be considered in the differential of central cyanosis. 
Keywords : Hepatopulmonary syndrome, Copper, Cyanosis, Liver Failure, Liver Diseases, Dyspnea, Humans.
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