Systemic amyloid light-chain (AL) amyloidosis is a rare plasma cell disorder characterized by extracellular deposition of misfolded immunoglobulin light chains, resulting in progressive organ dysfunction. Although hepatic involvement is recognized in AL amyloidosis, it is often clinically silent or presents with hepatomegaly (liver enlargement) and cholestatic liver enzyme abnormalities. Severe cholestatic jaundice as the initial and dominant manifestation is uncommon, particularly in the absence of hepatomegaly or radiographic biliary obstruction. We report a 63-year-old woman with limited prior healthcare engagement who presented with persistent left ankle pain after a minor twisting injury and was incidentally found to have painless progressive jaundice. Initial laboratory evaluation showed a marked cholestatic pattern of liver injury, including alkaline phosphatase greater than 2300 U/L, total bilirubin of 11.8 mg/dL, direct bilirubin of 8.7 mg/dL, and gamma-glutamyl transferase of 1152 U/L, with disproportionately lower transaminase elevation. Imaging showed cholelithiasis but no biliary obstruction, ductal dilation, focal hepatic lesion, or hepatomegaly. Serologic evaluation for common hepatobiliary causes was unrevealing. Liver biopsy demonstrated amyloidosis predominantly around the portal veins, canalicular and chronic cholestasis, periportal fibrosis, and focal bridging fibrosis. Hematologic evaluation revealed an IgG lambda monoclonal protein, lambda-predominant free light-chain elevation, and bone marrow involvement by a lambda-restricted plasma cell neoplasm, establishing systemic AL amyloidosis with hepatic involvement. Despite initiation of attenuated daratumumab, bortezomib, and dexamethasone therapy, the patient developed rapidly progressive hepatic dysfunction, decompensated heart failure, acute kidney injury, refractory volume overload, and anuric renal failure. She ultimately elected comfort-focused care and was discharged to hospice. This case highlights hepatic AL amyloidosis as an important diagnostic consideration in unexplained cholestatic jaundice, even without hepatomegaly or biliary obstruction. Early recognition is essential, as severe hepatic dysfunction with multisystem involvement carries a poor prognosis.
Biswas et al. (Thu,) studied this question.
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