ABeta2M amyloidosis

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Overview

ABeta2M amyloidosis, also known as beta-2 microglobulin amyloidosis or dialysis-related amyloidosis (DRA), is a condition where a protein called beta-2 microglobulin builds up abnormally in the body and forms harmful deposits called amyloid. Normally, healthy kidneys filter this protein out of the blood. However, in people with long-term kidney failure who are on dialysis, the kidneys can no longer do this job, and the protein accumulates over time. These deposits tend to collect mainly in the joints, bones, and surrounding tissues, causing significant pain and disability. The most common symptoms include joint pain and stiffness, especially in the shoulders, wrists, and knees. Bone cysts can form, which may lead to fractures. A condition called carpal tunnel syndrome — where the wrist nerve gets compressed — is often one of the first signs. Over many years, amyloid deposits can also affect the heart and digestive system. The most effective treatment is a successful kidney transplant, which stops the buildup of beta-2 microglobulin. Newer, high-flux dialysis membranes can help remove more of the protein during dialysis sessions and may slow the disease. Pain management, physical therapy, and sometimes surgery are used to manage symptoms. There is currently no approved drug that directly removes or prevents amyloid deposits in this condition.

Also known as:

Key symptoms:

Joint pain, especially in the shoulders, wrists, hips, and kneesJoint stiffness that is often worse in the morningCarpal tunnel syndrome — numbness, tingling, or weakness in the handsBone cysts that can weaken bones and lead to fracturesSwelling around jointsDifficulty moving the shoulders or other large jointsPathological fractures — broken bones from minor injuriesDestructive arthritis affecting the spine (spondyloarthropathy)Neck pain or stiffness from spinal involvementIn advanced cases, heart problems such as irregular heartbeat or heart failureDigestive symptoms such as nausea or bowel problems in severe cases

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for ABeta2M amyloidosis.

View clinical trials →

No actively recruiting trials found for ABeta2M amyloidosis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the ABeta2M amyloidosis community →

No specialists are currently listed for ABeta2M amyloidosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to ABeta2M amyloidosis.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about ABeta2M amyloidosis

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Am I a candidate for a kidney transplant, and would that help my amyloidosis?,Should I switch to a high-flux dialysis membrane, and would more frequent dialysis sessions help slow the disease?,What imaging or tests should I have regularly to monitor my joints and bones?,What are my options for managing joint pain, and are there any risks with long-term pain medications given my kidney condition?,Should I see a rheumatologist or orthopedic surgeon for my joint problems?,Are there any clinical trials for new treatments for beta-2 microglobulin amyloidosis that I might qualify for?,What signs should prompt me to go to the emergency room immediately?

Common questions about ABeta2M amyloidosis

What is ABeta2M amyloidosis?

ABeta2M amyloidosis, also known as beta-2 microglobulin amyloidosis or dialysis-related amyloidosis (DRA), is a condition where a protein called beta-2 microglobulin builds up abnormally in the body and forms harmful deposits called amyloid. Normally, healthy kidneys filter this protein out of the blood. However, in people with long-term kidney failure who are on dialysis, the kidneys can no longer do this job, and the protein accumulates over time. These deposits tend to collect mainly in the joints, bones, and surrounding tissues, causing significant pain and disability. The most common sym

How is ABeta2M amyloidosis inherited?

ABeta2M amyloidosis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does ABeta2M amyloidosis typically begin?

Typical onset of ABeta2M amyloidosis is adult. Age of onset can vary across affected individuals.