Hitting Two Liver Diagnoses With One Needle

Abstract

Introduction: In hepatic amyloidosis, excess deposition of misfolded proteins into liver tissues may lead to liver dysfunction, portal hypertension, liver failure, and even death. Hepatic amyloidosis is most commonly attributed to systemic light chain amyloidosis; however, other subtypes of amyloid are increasingly recognized. We present a case of rare and novel amyloid subtype, previously described mostly in cases in renal amyloidosis. Case Description: A 54-year-old Hispanic woman with history of diabetes mellitus and chronic kidney disease stage 4 presented with two months of abdominal pain. The pain was not associated with any fever, chills, night sweats, weight loss, or hematemesis. On exam, she was afebrile and noted to have RUQ tenderness without Murphy's sign, jaundice or ascites. White blood cell count and hemoglobin level were 14,600/mm3 and 11.3 g/dL, respectively. Liver panel was unremarkable except elevated alkaline phosphatase level of 137 U/L. Abdominal ultrasound showed a smooth-surfaced liver with a 6.7 x 5.4 x 5.3 cm irregularly shaped heterogeneous lesion within the right hepatic lobe, and a 0.9cm hyperechoic lesion in the anterior left hepatic lobe. Further imaging studies, including CT and MRI, confirmed the ultrasound findings. Technetium-Labeled Red Blood Cell Bleeding scan showed liver lesions with characteristics not definitive for hemangioma. Patient underwent an ultrasound-guided liver biopsy, which showed a globular amyloidosis and a capillary hemagioma. Further pathology staining showed negative kappa and lambda stains; the results of patient's serum protein electrophoresis, serum light chain assays, and quantitative immunoglobulins were not compatible with AL amyloidosis. On mass spectrometry (MS), the liver specimen was shown to have an Alect-2 (Leukocyte Chemotactic factor-associated Amyloidosis) amyloid. Discussion: ALect-2 amyloidosis is a rare type of systemic amyloidosis that primarily involves the kidneys, spleen, and liver. Although there are limited numbers of cases reported in the literature, most patients appear to be of Hispanic ethnicity, and show a globular pattern of amyloid deposition on biopsy. Subtyping hepatic amyloid deposits by an accurate analytic method such as MS is required for optimal diagnosis of hepatic amyloidosis patients and avoiding incorrect and unnecessarily toxic therapies. To date, no specific therapy for ALect-2 has been reported.