Severe Cholestasis and Portal Hypertension with AV Fistula Formation Secondary to Amyloidosis

Abstract

Introduction: Systemic amyloidosis encompasses a spectrum of disease characterized by deposition of an abnormal amyloid protein in many organs. Liver involvement in amyloidosis often presents with a cholestatic pattern of liver enzyme elevation although rarely patients may present with portal hypertension or even hepatic failure secondary to amyloid involvement. This is a rare case presentation of acute liver failure secondary to AL (primary) amyloidosis that was initially attributed to congestive heart failure in a patient with known cardiac disease. Case: 86 y/o male with a history of atherosclerotic coronary artery disease presented to Walter Reed National Military Medical Center with a 3 week history of progressive fatigue, lower extremity swelling and new onset elevation of liver associated enzymes in a cholestatic pattern. Physical examination was remarkable for 1+ peripheral edema and hepatomegaly without evidence of ascites or jaundice. Initial laboratory findings revealed an AST of 87 U/L, ALT 29 U/L, alkaline phosphatase of 903 U/L and bilirubin of 2.9 mg/dL. Ultrasound showed diffusely heterogeneous liver parenchyma without ductal dilation or evidence of obstruction. Serologies for autoimmune liver disease, viral hepatitis, and hemochromatosis were negative. Over the course of 1 week, the patient's peripheral edema progressed to anasarca and he became jaundiced. Dedicated CT of the liver showed evidence of an infiltrative process and presence of an Arterio-Venous Fistula in the right hepatic lobe. Paracentesis revealed a SAAG > 1.1 and total protein < 2.0 g/dL. Transjugular liver biopsy was remarkable for elevated trans-sinusoidal pressure of 24 mm Hg consistent with severe portal hypertension. Pathology demonstrated diffuse infiltration of the liver with Congo red staining proteinaceous material consistent with amyloidosis. Serum Kappa light chain levels were notably elevated at 1,102 mg/L. The patient subsequently developed renal failure, with severe hepatic encephalopathy and coagulopathy. His total bilirubin increased to 9.8 mg/dL and the alk phos increased to over 1000 U/L. The patient became anuric and comfort measures were instituted. He passed away on hospital day nine. AL amyloidosis with hepatic involvement carries a poor prognosis with a median survival of 1 year. Presentation with portal hypertension and severe cholestasis occurs in less than 5% of patients and carries a mortality greater than 70%. Spontaneous hepatic AV fistula formation may occur in cirrhosis but has not been reported in the setting of hepatic amyloidosis. This case represents a unique presentation of systemic amyloidosis with hepatic failure as well as an AV fistula.