Massive hepatic amyloidosis with fatal hepatic failure

Abstract

A 55-year-old woman diagnosed with high blood pressure, hypothyroidism, and various vertebral fractures attributedto severe osteopenia was admitted to the hospital with a gastrointestinal bleeding secondary to a benign gastric ulcer. Dur-ing the examination, attention was drawn to an indolent smooth-surface, hard hepatomegaly associated with severely ten-der spinous processes in lumbar vertebrae. Laboratory parameters showed normocytic anemia (Hb 8.7 g/dl, VCM 84 fl)with a prothrombin activity of 35% and changes in the liver tests (GGT 588 U/L, AP 231 U/L, normal transaminases andbilirubin). In view of these findings an abdominal ultrasound was obtained, which showed liver enlargement without signsof portal hypertension, but evidences of chronic liver disease with no definite findings. Because of the presence of severecoagulation problems, a transjugular liver biopsy was carried out, and the diagnosis of amyloidosis was reached; later, abone marrow puncture was performed before the advent of vertebral fractures in the lumbar region. After the diagnosis ofprimary amyloidosis and plasmocytoma, treatment was begun with high-dose of dexamethasone; however, liver and re-nal function impaired progressively, the patient developed jaundice and died.Liver involvement is frequent in systemic amyloidosis, and varies according to different series from 56 to 90% if weexclude familial amyloidosis (1,2). The onset of the disease usually involves a presentation with symptoms secondary toliver dysfunction, including abdominal distension and hepatomegaly. Liver function tests may be abnormal and usuallyinclude elevated alkaline phosphatase and GGT. The presence of jaundice and particularly serum bilirubin levels above5 mg/dl is exceptional and commonly associated with a poor outcome (2). The presence of severe intrahepatic cholestasisat onset is exceptional; thus, Goenka et al. (2) described the existence of only 27 cases, of which 22 died before the sixthmonth after development of jaundice. The presence of high alkaline phosphatase levels up to 4 times the normal value re-sults in poor prognosis, with a mean survival of 3.3 months since jaundice development (3). Treatment with melphalanand prednisone, together with the assessment of potential liver transplantation are the only therapeutic options.