A case report of primary hepatic amyloidosis manifesting as severe cholestasis and acute liver failure

Abstract

Introduction. Hepatic amyloidosis is characterized by the deposition of fibrillar amyloid proteins, which result from light chain amyloidosis (AL) immunoglobulin fragments, in the extracellular space and the vessel walls of the liver. A case of primary hepatic amyloidosis without evidence of a primary or secondary cause of amyloid deposition is rare. This case was unique to the Republic of Moldova, presenting a diagnostic and therapeutic challenge for clinicians. Because the liver is rarely affected, this pathology remains underdiagnosed and is associated with a reserved prognosis. Clinical case presentation. An unusual case of primary hepatic amyloidosis is reported in a previously asymptomatic 59-year-old woman who presented at admission with peripheral edema, ascites, and hepatomegaly. Biochemical tests revealed severe cholestasis with normal bilirubin levels and acute liver failure. Liver damage caused by viral hepatitis or autoimmune diseases was excluded. A percutaneous bone marrow biopsy was normal, and Bence Jones protein was negative, indicating no evidence of primary amyloidosis. The definitive diagnosis was based on liver biopsy, which revealed apple green birefringence on polarizing microscopy after positive Congo red staining. Conclusions. The reported case highlights the need to differentiate between infiltrative diseases, such as amyloidosis, when a patient presents with rapidly progressive severe cholestasis and acute liver failure. Future studies should focus on the availability of specific therapies for primary amyloidosis to improve the survival rate of these patients.