Overview
COL4A1/COL4A2-related familial vascular leukoencephalopathy is a rare inherited condition that affects the small blood vessels in the brain and other organs. It is caused by changes (mutations) in the COL4A1 or COL4A2 genes, which provide instructions for making a protein called type IV collagen. This protein is a key building block of the thin membranes that surround and support blood vessels throughout the body. When this protein does not work properly, blood vessel walls become fragile and prone to damage. The brain is the most affected organ. White matter — the tissue that connects different parts of the brain — becomes damaged over time, which is why this condition is sometimes called a 'leukoencephalopathy' (leuko means white, encephalo means brain). People may also experience small strokes, bleeding in the brain, and damage to the eyes and kidneys. Symptoms can vary widely even within the same family. Common symptoms include strokes or stroke-like episodes (sometimes in young adults or even children), migraine headaches, muscle weakness or stiffness, problems with thinking and memory, and vision difficulties. Some people also develop kidney disease or muscle problems. There is currently no cure, and treatment focuses on managing symptoms, reducing stroke risk, and protecting affected organs. Blood pressure control is especially important. This condition is also sometimes referred to as COL4A1-related brain small vessel disease or COL4A2-related cerebrovascular disease.
Also known as:
Key symptoms:
Stroke or stroke-like episodes, sometimes at a young ageMigraine headaches, often with visual disturbances (aura)Weakness or stiffness on one side of the bodyProblems with memory, thinking, or concentrationVision problems, including double vision or vision lossSeizuresDifficulty walking or keeping balanceBleeding inside the brain (intracerebral hemorrhage)Kidney problems (blood or protein in the urine)Muscle cramps or weaknessCataracts or other eye abnormalitiesRaynaud's phenomenon (fingers turning white or blue in the cold)Abnormal heart rhythm in some cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventAromasin: FDA approved
Treatment of advanced breast cancer in postmenopausal women whose disease has progressed following tamoxifen therapy.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for COL4A1/2-related familial vascular leukoencephalopathy.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for COL4A1/2-related familial vascular leukoencephalopathy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for COL4A1/2-related familial vascular leukoencephalopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesAromasin
Pharmacia & Upjohn
Aromasin — Contact Pharmacia & Upjohn
Travel Grants
No travel grants are currently matched to COL4A1/2-related familial vascular leukoencephalopathy.
Community
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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.Which gene mutation do I have, and what does that mean for my specific risk of stroke or other complications?,Should my children or siblings be tested, and at what age?,What blood pressure target should I aim for, and which medications are safest for me?,Are there any activities or medications I should avoid because of my condition?,How often should I have brain MRI scans, eye exams, and kidney function tests?,Is there a clinical trial or research study I could join?,What should I do — and what should my family do — if I show signs of a stroke?
Common questions about COL4A1/2-related familial vascular leukoencephalopathy
What is COL4A1/2-related familial vascular leukoencephalopathy?
COL4A1/COL4A2-related familial vascular leukoencephalopathy is a rare inherited condition that affects the small blood vessels in the brain and other organs. It is caused by changes (mutations) in the COL4A1 or COL4A2 genes, which provide instructions for making a protein called type IV collagen. This protein is a key building block of the thin membranes that surround and support blood vessels throughout the body. When this protein does not work properly, blood vessel walls become fragile and prone to damage. The brain is the most affected organ. White matter — the tissue that connects differ
How is COL4A1/2-related familial vascular leukoencephalopathy inherited?
COL4A1/2-related familial vascular leukoencephalopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
What treatment and support options exist for COL4A1/2-related familial vascular leukoencephalopathy?
1 patient support program are currently tracked on UniteRare for COL4A1/2-related familial vascular leukoencephalopathy. See the treatments and support programs sections for copay assistance, eligibility, and contact details.