Variant ABeta2M amyloidosis

Variant ABeta2M amyloidosis is an extremely rare hereditary form of amyloidosis caused by mutations in the gene that makes a protein called beta-2 microglobulin (B2M). In this condition, the mutated beta-2 microglobulin protein misfolds and clumps together into abnormal deposits called amyloid fibrils. These deposits build up in various organs and tissues over time, gradually damaging them and interfering with their normal function. Unlike the more common dialysis-related beta-2 microglobulin amyloidosis, which occurs in people on long-term kidney dialysis, this hereditary variant occurs without kidney failure or dialysis as a trigger. The amyloid deposits most commonly affect the gastrointestinal tract, kidneys, and other organs, leading to symptoms such as chronic diarrhea, weight loss, kidney problems, and fatigue. The disease typically appears in adulthood and progresses slowly over years. Treatment is mainly supportive, focusing on managing symptoms and protecting organ function. Because this is such a rare condition, treatment approaches are often borrowed from experience with other types of hereditary amyloidosis. Diagnosis requires specialized testing including tissue biopsy with amyloid typing and genetic testing to confirm the specific mutation in the B2M gene.

Bring these to your next appointment

• Q1.Which of my organs are currently affected by amyloid deposits, and how severe is the involvement?,How often should I have blood tests, urine tests, and imaging to monitor for disease progression?,Should my family members be tested for the B2M gene mutation?,Are there any clinical trials or emerging treatments that might be appropriate for me?,What dietary changes or nutritional support would help manage my symptoms?,What signs or symptoms should prompt me to seek emergency care?,Is referral to a specialized amyloidosis center recommended for my care?

Common questions about Variant ABeta2M amyloidosis