Multiorgan involvement by amyloid light chain amyloidosis

Amyloid light chain (AL) amyloidosis, namely primary systemic amyloidosis, is a protein conformational disease. AL amyloidosis is caused by unusual small plasma cell clones that produce misfolded light chains, which are then deposited in various tissues.1–3 AL amyloidosis involves multiple organs, including the heart (75%), kidneys (65%), liver (15%), soft tissues (15%), peripheral and/or autonomic nervous system (10%), and gastrointestinal tract (5%).4 Presenting symptoms of systemic AL amyloidosis are broad and are often a consequence of advanced irreversible organ damage, mimicking other more common diseases of the older population. Thus, it is frequently misdiagnosed.5 In approximately 40% of cases, AL amyloidosis is diagnosed more than 1 year after the onset of symptoms, and affected patients die within a few months after diagnosis despite modern treatments.6,7 Therefore, delayed diagnosis remains a major challenge in initiating effective therapy before organ function deteriorates over time, and recognition of the presenting manifestations is thus imperative for improving survival. Therapy requires a risk-adapted approach. Stem cell transplantation (SCT) is preferred, but only 20% of patients are eligible. Non-transplant candidates are offered chemotherapy. Appropriate treatments target the amyloid deposits and interfere with amyloidogenesis and organ damage. Emerging interventions, such as small RNA interference, are currently being developed.6,8–10 The purpose of the present case report is to provide a better understanding of the clinical features, pathogenesis, diagnosis, therapy, and prognosis of AL amyloidosis and thereby promote the management of amyloidosis.