Hepatic amyloidosis (Primary [AL], immunoglobulin light chain): The natural history in 80 patients

Purpose: We wished to study patients with a premortem diagnosis of primary hepatic amyloidosis to determine what clinical and laboratory features might assist in recognizing the disease and assessing prognosis. Patients and methods: A group of 80 patients with liver biopsy proven primary hepatic amyloidosis was followed from diagnosis to death. Results: At presentation, 77 percent of the group had an associated nephrotic syndrome, congestive heart failure, peripheral neuropathy, or orthostatic hypotension. Certain clues suggested the diagnosis of hepatic amyloidosis in patients with liver disease, including the following: (1) proteinuria (88 percent); (2) abnormal serum protein electrophoresis (monoclonal protein or hypogammaglobulinemia, 64 percent); (3) hyposplenism on the peripheral blood smear (62 percent), defined by the presence of Howell-Jolly bodies; and (4) hepatomegaly disproportional to the liver enzyme abnormalities. Liver function tests were not sensitive or specific. Hepatomegaly from amyloid was frequently seen, with normal levels of alkaline phosphatase, aspartate aminotransferase, and bilirubin (32 percent). Myeloma was diagnosed in 11 patients but had no effect on the clinical course. In vitro coagulation abnormalities were common, bleeding was infrequent, and liver biopsy carried a slightly increased risk. The median survival of the entire group was nine months, and projected five- and 10-year survival rates were 13 and 1 percent, respectively. Conclusion: Because survival is poor and no clinical features permit prospective recognition of those patients in whom the disease is likely to have an indolent course, a trial of therapy is warranted in all patients.