University of Cincinnati Medical Center Cincinnati, OH
Introduction: Primary AL amyloidosis is a systemic disease characterized by the deposition of insoluble fibrils from immunoglobulin light chains. Hepatic involvement is common, and portal hypertension, jaundice, and liver failure have been described. We present a case of primary hepatic amyloidosis that mimicked the rapid development of decompensated cirrhosis.
Case Description/Methods: A 63-year-old male with a history of remotely treated hepatitis C presented with new onset ascites over one month. Laboratory values were notable for AST 201, ALT 64, TBili 1.3, ALP 582, albumin 2.5, platelet count 105, INR 1.5. Paracentesis was performed with 4 liters removed. Serum ascites albumin gradient (SAAG) was > 1.1, protein < 2.0. Other features of his presentation included acute kidney injury with creatinine 3.1 and nephrotic range proteinuria. Of note, he had a liver biopsy 5 years ago with only portal fibrosis. Serologic evaluation for causes of chronic liver disease was negative. Further testing revealed monoclonal free kappa light chains on urine immunofixation and an elevated kappa/lambda ratio of 8.35. Both liver and kidney biopsies displayed amyloid confirmed by Congo red stain, and he was diagnosed with AL amyloidosis. However, a week later he expired from ventricular fibrillation cardiac arrest.
Discussion: This case highlights the diagnostic dilemma of a patient without known liver disease who rapidly developed signs of portal hypertension and systemic features of other end-organ involvement (i.e. proteinuria, cardiomyopathy), demonstrating the importance of including amyloidosis in the differential. In this case, the patient had a recent liver biopsy that was unremarkable. On presentation, however, he seemed to have progressed to decompensated cirrhosis in a short period of time, with ascites presumed to be from portal hypertension given the elevated SAAG. Ultimately, his entire presentation was attributable to primary hepatic amyloidosis.
While clinical manifestations of hepatic amyloidosis are uncommon, with hepatomegaly and elevated alkaline phosphatase as the most frequent findings, sinusoidal portal hypertension may occur and manifest as ascites, splenomegaly, and bleeding esophageal varices. The portal hypertension is thought to be related to the decreased vascular space of hepatic sinusoids from massive perisinusoidal amyloid deposits. Diagnosis involves biopsy of other organs and/or the liver, in which bleeding is a risk. Prognosis is poor for hepatic amyloidosis, with median survival of 9 months.
