Not so Cryptogenic Anymore

Abstract

Amyloidosis is a rare disease that involves the improper deposition of insoluble protein fragments in tissue, thereby impairing functionality and architecture. While any organ can be affected, the liver is often targeted and manifests as abnormal LFT's and hepatomegaly; however, patients usually remain asymptomatic and instead present with complications from other organ involvement. Isolated cases of hepatic amyloidosis are a rare entity, as evidenced by the limited case reports. A 59 year-old African American F with no PMH presented to clinic for insidious onset of jaundice, ascites, persistently elevated ALT/AST, and a 20-lb weight loss over 6 months. Extensive infectious, autoimmune, and metabolic workup was unrevealing. Liver biopsy revealed portal fibrosis, inflammation, ductular reaction, and bile plugs. Thought to be due to extrahepatic biliary obstruction but MRCP was negative for PSC or PBC. Labeled with cryptogenic cirrhosis and was undergoing transplant evaluation when she presented as an OSH transfer nearly a year later with AMS. Labs were consistent with acute onset liver and renal failure. Physical exam was notable for jaundice, a diffusely tender abdomen, and ascites. With a MELD of 40 and rapidly declining renal function requiring CRRT, she was transferred to the ICU and listed for SLK transplant. Biopsy of explanted liver revealed extensive amyloidosis (AL Amyloid kappa type). Further workup for systemic amyloidosis including imaging and BM biopsy was negative. 3 months post-transplant, she was seen in clinic without evidence of disease recurrence. AL Amyloidosis is a rare disease affecting 6-10 individuals per million per year. Liver involvement occurs in 62-90% of AL cases but usually presents as incidentally discovered hepatomegaly and mildly elevated ALP. Stigmata of chronic liver disease are rare: hyperbilirubinemia and jaundice are seen in only 5% of patients and suggests poor prognosis. Liver biopsy is the gold standard for diagnosis. Our patient's initial biopsy had no evidence of amyloid deposits but was Congo-red positive on repeat staining. Furthermore, her hepatic amyloidosis was unique in the severity of symptoms and level of organ involvement that led to hepatic failure ultimately requiring transplantation. In conclusion, hepatic amyloidosis usually is limited to hepatomegaly and abnormal lab values but can present as hepatic failure and should be considered in patients with otherwise unclear etiology of liver disease.