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Leptospirosis presenting in a woman with fulminant hepatic failure from Wilson's disease: a case report
© Andreadis et al; licensee BioMed Central Ltd. 2010
Received: 9 February 2010
Accepted: 10 August 2010
Published: 10 August 2010
We report an unusual case of Wilson's disease that was revealed by presentation of leptospirosis. The prompt detection of this potentially life-threatening disease highlights the importance of careful investigation. To the best of our knowledge, this is the first reported case of leptospirosis involving the development of fulminant liver failure due to Wilson's disease.
A 17-year-old Caucasian woman presented with fever, rigors, vomiting and scleral jaundice. Following clinical and laboratory evaluation she was diagnosed with leptospirosis. After remission of this disease her condition inexplicably deteriorated. Further investigations revealed that she had Wilson's disease.
The unexplained deterioration of hepatic function in a young person in remission from leptospirosis should alert the clinician to the presence of an underlying disorder, such as Wilson's disease, the early detection of which is crucial to the prognosis. The mechanism that initiates the development of Wilson's disease is not fully understood, but it is thought that an intercurrent illness, such as viral infection or drug toxicity, could be implicated. In our case, leptospirosis appeared to precipitate the deterioration of liver function in a patient with Wilson's disease, advancing our knowledge of this association. This original case report could have a broader clinical impact across medicine.
Leptospirosis is a zoonosis with protean manifestation caused by the spirochete, Leptospira interrogans. It is usually characterized by sudden onset of fever, rigors, myalgias and headache and is occasionally accompanied by nausea, vomiting and diarrhea. The disease course is generally mild to moderate and is seldom complicated by liver failure . Wilson's disease is a rare cause of liver disorder, whose clinical manifestations range from increased levels of aminotransferase and bilirubin, decreased serum ceruloplasmin and detectable Kayser-Fleischer rings to fulminant hepatic failure (FHF). It can also present with neurologic, hematologic and renal dysfunction and affects mainly females between five and 40 years of age. This typical presentation represents only 50 percent of patients ultimately diagnosed with Wilson's disease . To our knowledge, an association between leptospirosis and Wilson's disease has not been reported.
This case highlights the need for increased awareness in patients presenting with leptospirosis and liver disease, when the apparent remission of leptospirosis does not concur with improvement of liver function. The deterioration of our patient's clinical condition and the biochemical findings strongly point to an underlying disease that was not obvious at the initial presentation. Since other causes of FHF including viral, toxin or immunologic disease were excluded, the diagnosis of Wilson's disease underlying leptospirosis appeared more likely. The three most relevant features that characterize Wilson's disease include age < 35 years, Coombs negative hemolytic anemia and low serum alkaline phosphatase level, all of which applied to our patient. Diagnosis was established on the basis of Kayser-Fleischer rings, serum ceruloplasmin levels below 20 mg/dL and 24-hour urinary copper in excess of 40 mcg . Massive release of copper from necrotic hepatocytes can display normal copper tissue concentration, as a result of which a biopsy sample could render false negative results. Having reached diagnosis in our case, liver biopsy proved unnecessary; our patient had FHF as defined by the development of acute hepatitis and encephalopathy in a person with no history of liver disease .
The clinician should suspect an underlying disease in an unexplained liver failure associated with leptospirosis. The unexplained deterioration of hepatic function in a young person in remission from leptospirosis should alert the clinician to the presence of an underlying disorder, such as Wilson's disease, the early detection of which is crucial to the prognosis. As the literature has no documented reports of a leptospirosis infection being susceptible to severe liver disease, this case encourages further investigation.
As the patient is a minor, written informed consent was obtained from her parents for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of the journal.
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