Hepatic Amyloidosis in the Absence of Cardiopulmonary Involvement: An Interesting Etiology of Liver Failure

Abstract

Purpose: Primary systemic amyloidosis is characterized by the infiltration of the heart, lung, kidney, peripheral nerves or liver by amyloid proteins. Symptoms depend on the site of deposition and can ultimately result in multisystem organ failure. Secondary gastrointestinal amyloidosis affects 60% of amyloidosis patients. On the contrary, primary amyloidosis of the gastrointestinal tract, and more specifically of the liver, in the absence of cardiopulmonary involvement is exceedingly rare and has not been described in the literature. Case Presentation: A 48-year-old female was transferred from an outside hospital for workup of orthotopic liver transplant after experiencing anorexia, early satiety and a fifty-pound unintentional weight loss. She subsequently recognized yellowing of her skin with concomitant right upper quadrant abdominal pain. Physical examination: Jaundiced female with marked scleral icterus, distended abdomen, tenderness in the right upper quadrant, and hepatosplenomegaly. Laboratory Data: WBC 24.6/uL, Hb 10.4 g/dL, MCV 93.5 FL, platelets 204/uL. Creatinine 1.3 mg/dL. Total and direct bilirubin 25.9 and 16.9 mg/dL, respectively. AST 37 u/L, ALT 10 u/L, alkaline phosphatase 646 u/L. PT 19.1 sec, INR 2.1, PTT 52 sec. Hospital Course: The patient acutely decompensated upon arrival in concert with developing hepatic encephalopathy, requiring ICU level of care. Workup continued with CT scan of the abdomen, which illustrated marked hepatomegaly, a large subcapsular hematoma, an ill-defined pancreatic mass and a hyperechoic lesion in the right lobe of the liver. Endoscopic ultrasound with fine needle aspiration demonstrated no evidence of malignancy at the head of the pancreas, common bile duct dilatation or choledocholithiasis. Exploratory laparotomy was performed, at which time cholecystectomy, evacuation of subcapsular hematoma and a wedge biopsy of the liver were performed. Primary systemic amyloidosis was diagnosed on liver biopsy. Elevation of free kappa light chains, bone marrow cytology and flow cytometry confirmed amyloidosis. The patient was treated with bortezomib and dexamethasone. Her bilirubin gradually down trended over the subsequent 12 days from 25.9 to 9.6 mg/dL, while her encephalopathy cleared. The patient was discharged with plan for future autologous stem-cell transplant. Conclusion: We present a rare cause of liver failure, primary hepatic amyloidosis, in the absence of cardiopulmonary or renal involvement. This is of great interest in the study of amyloidosis and hepatology, because as physicians we must recognize that primary amyloidosis can occur in the liver, especially in the absence of cardiopulmonary involvement.