Primary Hepatic Amyloidosis: An Untimely Death

Abstract

Purpose: Primary hepatic amyloidosis, also termed hepatic AL amyloidosis, is characterized by the deposition of amyloid fibril-forming monoclonal immunoglobulin light chains within the liver. This disease often starts with mild signs, such as hepatomegaly and elevated alkaline phosphatase. Over time, this progresses to liver dysfunction, ascites, portal hypertension, liver failure, and death. A 63-year-old African-American female presented to the hospital with a one-month history of abdominal distension and jaundice. Her physical findings included ascites and massive hepatomegaly, and labs showed an elevated alkaline phosphatase (ALP) 1989 U/L, total bilirubin 4.8 mg/dL, aspartate aminotransferase (AST) 92 U/L, alanine aminotransferase (ALT) 43 U/L, platelet (PLT) 750 K/uL, prothrombin time (PT) 24.5 seconds, INR 2.2, total protein 5.5 g/dL, albumin 2.6 g/dL, blood urea nitrogen (BUN) 11 mg/dL and creatinine (Cr) 0.4 mg/dL. A CT scan of the abdomen revealed hepatomegaly with an echogenic lesion in the right hepatic lobe, splenomegaly, and ascites. A liver biopsy was done, showing Congo red stain with apple-green birefringence consistent with amyloidosis. Her bone marrow biopsy showed amyloidosis with aberrant kappa-restricted plasma cell population. She was diagnosed with hepatic AL amyloidosis, and she was started on bortezomib and dexamethasone. However, one month later, she had an elevated ALP 3274 U/L, total bilirubin 26.7 mg/dL, AST 101 U/L, ALT 57 U/L, PLT 357 K/uL, PT 35.8 seconds, INR 3.5, and Cr 3.5 mg/dL. She had a renal ultrasound that showed an increased echogenicity of both kidneys. Given her poor performance status, she did not receive dialysis or further chemotherapy. She was sent home with hospice, and passed away less than one month later. Prognosis is poor in patients with hepatic amyloidosis, with a mean survival of 10-14 months from diagnosis. This disease usually presents with mild clinical findings; however, once liver failure develops, the survival rate declines rapidly. Although this disease has a poor prognosis, early diagnosis can lead to more effective therapy.