Amyloidosis

Amyloidosis is a group of rare diseases characterized by the abnormal accumulation of misfolded amyloid proteins in organs and tissues. This buildup disrupts normal function and can affect various organ systems, including the kidneys, heart, liver, nervous system, and gastrointestinal tract.

While some forms of amyloidosis are hereditary, others develop due to chronic inflammatory conditions, plasma cell disorders, or unknown causes. Amyloidosis is not classified as a primary autoimmune disease, but certain types, such as AA amyloidosis, are associated with chronic inflammatory and autoimmune diseases.

There are several types of amyloidosis, including:

• AA amyloidosis (secondary amyloidosis): Caused by chronic inflammation and the overproduction of serum amyloid A (SAA) protein, which misfolds and deposits in organs.
• AL amyloidosis (primary amyloidosis): Caused by abnormal plasma cells producing misfolded immunoglobulin light chains that accumulate as amyloid fibrils. This form is often associated with multiple myeloma.

Fatigue, weight loss, swelling (edema), shortness of breath, numbness or tingling (neuropathy), enlarged tongue, difficulty swallowing, bruising, and irregular heart rhythms. Symptoms vary depending on the organs affected.

AA amyloidosis is associated with chronic inflammatory and autoimmune diseases, particularly rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, Crohn’s disease, and ulcerative colitis. It is also linked to chronic infections such as tuberculosis and osteomyelitis.

AL amyloidosis is commonly associated with multiple myeloma and other plasma cell disorders.

Risk factors for amyloidosis include chronic inflammatory diseases, plasma cell disorders, long-term dialysis, genetic predisposition, and certain infections.

The prevalence varies by subtype, with AL amyloidosis affecting approximately 1 in 100,000 people annually and hereditary forms being rarer. AA amyloidosis is more common in individuals with longstanding inflammatory conditions.

• Clinical and Pathological Characteristics of Non-AL Amyloidosis MGRS: A Single-Center Experience Over 10 Years (2025)
• Supportive care for systemic amyloidosis: International Society of Amyloidosis (ISA) expert panel guidelines (2025)
• How I treat AL amyloidosis (2022)