Hepatic Involvement as the Sole Presentation of Systemic Amyloid Light Chain (AL) Amyloidosis: A Diagnostic Challenge

Primary systemic amyloidosis is generally a systemic condition and only a few of systemic amyloidosis cases manifest with signs of single-organ involvement. The occurrence of symptoms and signs of hepatic involvement alone in primary systemic amyloidosis is rare, presenting a diagnostic challenge. In this case, a 55-year-old lady presented with nonspecific symptoms such as weight loss and loss of appetite. She was found to have mildly deranged liver function tests with a cholestatic pattern, and there were no apparent risk factors for liver disease. Clinical features of involvement in other organs were notably absent. After ruling out common causes of cholestatic liver disease, we considered the possibility of infiltrative liver disease and arranged for a liver biopsy, which revealed the diagnosis of amyloidosis. In summary, while hepatic deposition is a relatively common consequence of systemic amyloidosis, it is exceptionally rare for a patient to present with clinical features of liver involvement alone. This rarity presents a significant diagnostic challenge. Given the infrequency of this presentation, a diagnosis of amyloidosis should be considered only after diligently excluding other more common causes of hepatomegaly, whether associated with abnormal liver function tests or not.