Living with Variant ABeta2M amyloidosis
A rare inherited condition in which an abnormal protein builds up in the body, affecting the gut, nerves, and kidneys.
Understanding Variant ABeta2M amyloidosis
It mainly affects adults. GARD says the buildup leads to gradually worsening digestive problems, Sjogren syndrome (dry eyes and mouth), and autonomic neuropathy (nerve problems that affect automatic body functions).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic kidney disease
- Protein buildup in the kidneys (renal amyloidosis)
- Nerve squeezing in the wrist (median neuropathy)
- Digestive problems
- Dry eyes and mouth (Sjogren syndrome)
- Automatic nerve problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in B2M are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Amyloidosis Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Amyloidosis Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Amyloidosis Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the B2M gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: autosomal dominant beta2-microglobulinic amyloidosis
Patient organizations
- Amyloidosis FoundationVariant ABeta2M amyloidosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Variant ABeta2M amyloidosis.
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- Eligibility is confirmed by the study team
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