Amiloidosi AL: il cuore del problema

AUTORI

ABSTRACT

AL amyloidosis: the heart of the problem

Immunoglobulin light chain amyloidosis (AL) is characterized by the production of immunoglobulin light chains with conformational abnormalities that cause systemic toxicity with rapid deterioration of the function of vital organs. When the heart is involved, as it is the case in ~3/4 of patients, clinical signs and symptoms often appear when organ damage is already irreversible and the treatment cannot longer change the course of disease. Although in recent years new powerful therapeutic regimens have become available, which are able to significantly improve long-term survival, the mortality rate in the first year after diagnosis has indeed not improved, still being 25-30%. Cardiac involvement is responsible for almost all of these deaths. Early diagnosis based on biochemical markers of the disease rather than on clinical symptoms and signs can allow for early detection of patients with cardiac amyloidosis and to establish an effective therapy. To this end, our group has proposed the introduction of the measurement of natriuretic peptides that can identify the presence of amyloid cardiomyopathy with a sensitivity of 100% in the monitoring of subjects with monoclonal gammopathies of undetermined significance (MGUS) and altered ratio of circulating free light chains (FLC). Individuals with MGUS and altered FLC ratio are at intermediate/high risk of developing a malignant disease (AL amyloidosis in 10-15% of cases) and, according to the guidelines of the International Myeloma Working Group, they should be monitored regularly for their entire life. Here we describe a case where the application of these recent recommendations has allowed the timely recognition of amyloid cardiomyopathy.

BIBLIOGRAFIA