She had pulmonary tuberculosis at the age of 26. She took oral contraceptives, and she underwent surgery and blood transfusion for endometriosis at age 47. She had surgery without transfusion for osteoarthritis of the right knee and removal of colonic polyps, at 68 and 75 years old, respectively. Hypertension, hypercholesterolemia, and hypertrophic cardiomyopathy were diagnosed at age 56, 56, and 66, respectively, but no treatments were given. She did not have a past history of rheumatoid arthritis and had never received hemodialysis. She never smoked or drank alcohol. She was not a drug abuser, and no tattoo was found. At the time of admittance to our hospital, she was not taking any medications. Her father had esophageal cancer and alcoholic liver dysfunction, and her sister had skin cancer.
Although several clinical tests were performed at the outpatient clinic during a 6-month period, as the cause of her liver dysfunction remained unknown, she was then admitted to our hospital. Contrast-enhanced computed tomography (CT) revealed hepatomegaly with narrow portal vein, hepatic vein, and mild splenomegaly (Figure 1A-C). Although the association of liver and cardiac involvement is frequent, as her electrocardiogram and echocardiography showed normal cardiac movement (left ventricular ejection fraction, 75%) and no dilatation of the inferior vena cava, we did not consider the possibility of cardiac involvement. Renal function was within normal range as late as 2 months before her death. Fluorine-18 (18F) labeled FDG PET/CT was performed. The FDG uptake into the liver but not into the spleen was observed (Figure 1D), although the mean standard uptake value was not so high (2.0 in the left lobe of the liver; 1.8-2.0 in the right lobe; and 1.3-1.4 in the spleen). Magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography revealed narrowed intrahepatic bile ducts with smooth walls (Figure 2).
Upper gastrointestinal endoscopy showed no abnormal gross findings, but a biopsy specimen from the duodenal bulb mucosa exhibited amyloid deposition in the interspace of smooth muscles (not shown); macroglossia was observed. Eosinophilic amorphous depositions positive for Dylon staining that were resistant to potassium permanganate treatment and positive for amyloid P component were found. These results strongly suggested AL amyloidosis.
A liver biopsy was performed. The specimen was occupied by a diffuse eosinophilic amorphous structure, and any cellular component could not be found, suggesting hepatic amyloidosis (Figure 3). The biopsy specimen had the appearance of inappropriate material, but we later confirmed the hepatic involvement of primary systemic AL amyloidosis. Her general condition was too poor to allow aggressive treatment. She died 4 months after first admission to our hospital. Necropsy showed cardiac, renal, and hepatic involvement of amyloidosis.