Primary Hepatic Amyloidosis

Abstract

A 55 yr old female was referred to us for abnormal liver enzymes and 80lb weight loss with early satiety, abdominal pain and dysphagia. On physical exam, patient was noted to have large hepatomegaly. Liver profile was normal apart from a very elevated alkaline phosphatase at 349 IU/L. Abdominal US showed an enlarged 25cm liver with homogeneous parenchyma, no focal lesions and a normal biliary tree. Further workup with EGD revealed mild gastritis with large amounts of bile in the stomach. Colonoscopy revealed diverticulosis and 5mm cecal polyp which was a tubular adenoma. She was found to have elevated gamma globulins 4 gm/dl and positive ANA 1:1280. ANCA, ASMA, Hepatitis B and Hepatitis C were negative and AFP and CA 19-9 were within normal limits. Patient then underwent liver biopsy which revealed significant pericellular and sinusoidal amyloid deposition and chronic inflammation without fibrosis or steatosis which was confirmed with congo red stain. Findings were significant for AL Amyloidosis. Meanwhile her SPIEP results returned and showed faint atypical staining in the gamma region. UPIEP showed no evidence of monoclonal protein and immunofixation was negative. Bone marrow biopsy showed extensive amyloid deposition and mildly increased plasma cells. Further analysis with FISH using multiple myeloma specific set of probes showed hyperdiploidy however given only mildly elevated light chains on SPIEP and lack of monoclonal protein on UPIEP, diagnosis of multiple myeloma was excluded. Diagnosis of primary hepatic amyloidosis was confirmed. Patient was followed up outpatient by Heme/Onc and started on chemotherapy in anticipation of eventual stem cell transplant. Six months since initiation of treatment, patient's kappa chains decreased from 5.21mg/dL to 2.17mg/dL. She also had significant improvement in symptoms including near resolution of abdominal pain and dysphagia. Incidence of amyloidosis is eight per million persons per year and 25% of these patients present with hepatomegaly. Cardinal features of hepatic amyloidosis are hepatomegaly with increased alkaline phosphatase, minimal change in transaminases, proteinuria, a monoclonal light chain in the serum or urine, and hyposplenism. The purpose of this case report is to demonstrate the importance of early diagnosis of an unusual disease presentation as patients with AL hepatic amyloidosis have a poor one year survival rate, especially those with heart failure and/or hyperbilirubinemia.Figure 1Figure 2