ABetaA21G amyloidosis

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ORPHA:324718OMIM:605714E85.4+I68.0*
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Overview

ABetaA21G amyloidosis, also known as Flemish amyloid angiopathy or hereditary cerebral amyloid angiopathy (Dutch/Flemish type), is a very rare inherited condition caused by a specific change (mutation) in the APP gene. This mutation leads to the buildup of an abnormal form of amyloid-beta protein in the walls of blood vessels in the brain. Over time, this protein deposit weakens blood vessel walls and damages surrounding brain tissue. The disease primarily affects the brain and its blood vessels. People with this condition typically develop recurrent strokes caused by bleeding in the brain (hemorrhagic strokes), progressive dementia, and cognitive decline during adulthood. The bleeding episodes can vary in severity, and repeated events tend to worsen brain function over time. Some patients may also experience headaches, seizures, and gradual loss of mental abilities similar to Alzheimer's disease. There is currently no cure for ABetaA21G amyloidosis. Treatment focuses on managing symptoms, preventing further bleeding episodes, and supporting cognitive function. Blood pressure control is especially important to reduce the risk of brain hemorrhages. Rehabilitation services, cognitive support, and careful medication management form the backbone of current care. Research into amyloid-targeting therapies is ongoing but no specific disease-modifying treatment has been approved for this condition.

Also known as:

Key symptoms:

Recurrent strokes from brain bleedingProgressive memory loss and dementiaConfusion and difficulty thinking clearlyHeadachesSeizuresDifficulty with speech or languageWeakness or numbness on one side of the bodyPersonality or behavior changesProblems with balance and coordinationVision changesGradual loss of independence

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for ABetaA21G amyloidosis.

View clinical trials →

No actively recruiting trials found for ABetaA21G amyloidosis at this time.

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

Search ClinicalTrials.gov ↗Join the ABetaA21G amyloidosis community →

No specialists are currently listed for ABetaA21G 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 ABetaA21G amyloidosis.

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Community

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Latest news about ABetaA21G amyloidosis

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Caregiver Resources

NORD Caregiver Resources

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

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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.How can we best manage blood pressure to reduce the risk of future brain hemorrhages?,Are there any medications I should avoid because they could increase bleeding risk?,Should my family members be tested for this genetic mutation?,What signs of a new stroke should I watch for, and what should I do in an emergency?,Are there any clinical trials or experimental treatments available for this condition?,What support services are available for cognitive decline and rehabilitation?,How often should I have brain imaging to monitor the disease?

Common questions about ABetaA21G amyloidosis

What is ABetaA21G amyloidosis?

ABetaA21G amyloidosis, also known as Flemish amyloid angiopathy or hereditary cerebral amyloid angiopathy (Dutch/Flemish type), is a very rare inherited condition caused by a specific change (mutation) in the APP gene. This mutation leads to the buildup of an abnormal form of amyloid-beta protein in the walls of blood vessels in the brain. Over time, this protein deposit weakens blood vessel walls and damages surrounding brain tissue. The disease primarily affects the brain and its blood vessels. People with this condition typically develop recurrent strokes caused by bleeding in the brain (h

How is ABetaA21G amyloidosis inherited?

ABetaA21G amyloidosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does ABetaA21G amyloidosis typically begin?

Typical onset of ABetaA21G amyloidosis is adult. Age of onset can vary across affected individuals.