From the Guidelines
Amyloidosis is a disorder characterized by the abnormal extracellular deposition of misfolded proteins in various organs, resulting in damage and dysfunction, with amyloid light chain (AL) amyloidosis being one of the more common and severe forms, affecting approximately 10 per million per year 1.
Definition and Types
Amyloidosis constitutes a group of disorders involving the synthesis and deposition of misfolded proteins, leading to organ damage. The most common types include AL (light chain) amyloidosis, AA amyloidosis, and ATTR amyloidosis. AL amyloidosis, previously known as "primary" amyloidosis, is usually a plasma cell disorder where a small clone of bone-marrow-residing plasma cells secretes unstable immunoglobulin light chains, which can infiltrate peripheral organs and cause dysfunction 1.
Organs Involved and Prognosis
Organs commonly involved in amyloidosis include the kidneys, heart, gastrointestinal tract, liver, and nervous system. Cardiac involvement is a significant driver of disease prognosis and mortality. Given that more than 69% of patients have multiple organ involvement at diagnosis, early recognition and treatment are vital to prevent irreversible organ damage 1.
Diagnosis and Treatment
Diagnosis typically requires tissue biopsy to confirm the presence of amyloid deposits. Treatment focuses on managing the underlying condition, reducing amyloid production, and supporting affected organ function. For AL amyloidosis, autologous stem cell transplantation (ASCT) remains the standard of care for eligible patients, while new first-line agents like bortezomib have improved outcomes for ASCT-ineligible patients 1.
Importance of Early Diagnosis
Early diagnosis and treatment are crucial, as amyloidosis can cause progressive organ damage if left untreated. The introduction of new treatments, including second-line novel agents and anti-CD38 antibodies, offers hope for improved patient outcomes 1. Therefore, it is essential to prioritize early recognition and initiation of treatment to halt escalating organ damage and improve patient quality of life 1.
From the Research
Definition of Amyloidosis
- Amyloidosis is a heterogeneous group of diseases in which an otherwise normal protein forms insoluble amyloid fibrils that deposit in various organs and cause dysfunction 2.
- These diseases can be associated with a wide range of conditions, including Alzheimer's disease, multiple myeloma, other plasma cell disorders, and chronic inflammation 2.
Types of Amyloidosis
- AL amyloidosis is a fatal disease resulting from tissue deposition of amyloid fibrils derived from monoclonal immunoglobulin light chains 3.
- Primary (AL) amyloidosis is a type of amyloidosis that affects patients with heart failure and has a very poor prognosis 4.
Characteristics of Amyloidosis
- Amyloidosis can cause dysfunction in various organs, including the heart, and can lead to a poor prognosis 4, 3.
- The disease can be characterized by the formation of insoluble amyloid fibrils that deposit in organs and cause damage 2.
Treatment of Amyloidosis
- Treatment options for amyloidosis include oral melphalan, dexamethasone, and thalidomide, as well as high-dose melphalan and autologous stem-cell transplantation 4, 3, 5, 6.
- The combination of oral melphalan and dexamethasone is considered a standard therapy for patients with light-chain amyloidosis ineligible for autologous stem cell transplantation 5, 6.