AL-amyloidosis and its treatment by eliminating the precursor protein

Abstract

AL amyloidosis was diagnosed in 2 patients, women aged 61 and 43 respectively. The first patient, who had a nephrotic syndrome, died soon after diagnosis as the disease appeared to be already widespread. The second patient was still alive at the last follow-up, 17 years after diagnosis, because of effective elimination of her light chains by high-dose chemotherapy. AL amyloidosis is a rare, but severe, systemic disease with high mortality. Its aetiology lies in deregulated plasma cells producing excessive numbers of free immunoglobulin light chains. These light chains are the precursor proteins of amyloid fibrils. Amyloid fibrils are deposited extracellularly in tissue leading to organ dysfunction. Symptomatology is diverse, often non-specific, and generally not very well-known. Therefore, the diagnosis is often delayed for a long time. This is unfortunate, as high-dose chemotherapy targeted at elimination of the precursor protein considerably improves prognosis. However, this type of therapy can only be given in patients with limited and moderately progressive disease.</p