Systemic amyloidoses are protein misfolding disorders that cause amyloid deposits in organs like the heart, kidneys, and nervous system, leading to dysfunction. AL amyloidosis, which affects 3,500 to 4,500 people annually in the US, is caused by the deposition of immunoglobulin light chains. It commonly impacts the heart and kidneys, presenting with fatigue, weight loss, and neuropathy. Treatments include chemotherapy and stem cell transplantation, but delayed diagnosis often results in irreversible organ damage and a high one-year mortality rate of 12–30%.

Hereditary transthyretin amyloidosis (ATTRv) is an inherited condition caused by TTR gene mutations, leading to amyloid deposits. It is more prevalent in regions like Portugal and Japan and typically causes peripheral neuropathy and cardiac issues. Survival ranges from 6 to 12 years after symptom onset. While liver transplantation was once the primary treatment, recent advances in gene therapy and TTR stabilizers have improved management. However, both AL and ATTRv are often diagnosed late, worsening outcomes and highlighting the need for better diagnostic methods and treatment strategies.

Reference: Chompoopong P, Mauermann ML, Siddiqi H, Peltier A. Amyloid Neuropathy: From Pathophysiology to Treatment in Light-Chain Amyloidosis and Hereditary Transthyretin Amyloidosis. Ann Neurol. 2024 Sep;96(3):423-440. doi: 10.1002/ana.26965. Epub 2024 Jun 24. PMID: 38923548.