Overview
HANAC syndrome stands for Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps. It is a very rare inherited condition that affects the small blood vessels throughout the body, particularly in the kidneys, eyes, brain, and muscles. The name describes the main features of the disease: problems with blood vessel walls (angiopathy), kidney disease (nephropathy), bulging blood vessels in the brain (aneurysms), and painful muscle cramps. HANAC syndrome is caused by changes (mutations) in the COL4A1 gene, which provides instructions for making a protein called collagen type IV alpha-1. This protein is a key building block of the thin membrane that lines and supports blood vessels throughout the body. When this protein does not work correctly, blood vessel walls become fragile and prone to damage. People with HANAC syndrome often notice symptoms in adulthood, though some signs can appear earlier. Common problems include blood in the urine due to kidney involvement, muscle cramps especially after exercise, abnormal blood vessels in the retina of the eye, and an increased risk of stroke or bleeding in the brain due to aneurysms. There is currently no cure for HANAC syndrome, but symptoms can be managed with careful monitoring and supportive treatments. Regular follow-up with several specialists is very important to catch and treat complications early.
Also known as:
Key symptoms:
Blood in the urine (hematuria), often visible or detected on urine testsKidney disease that can slowly worsen over timePainful muscle cramps, especially during or after physical activityAbnormal or tortuous blood vessels in the retina of the eyeAneurysms (bulging weak spots) in brain blood vesselsHeadaches, which may be related to brain vessel changesStroke or transient ischemic attack (mini-stroke) in some casesRaynaud phenomenon (fingers or toes turning white or blue in the cold) in some patientsElevated blood pressure (hypertension) related to kidney involvementProtein in the urine as kidney function declinesVisual disturbances related to retinal vessel abnormalities
Clinical phenotype terms (5)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for HANAC syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for HANAC syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for HANAC syndrome.
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 resourcesLioresal (baclofen)
Saol
Muscle Cramps
Travel Grants
No travel grants are currently matched to HANAC syndrome.
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 organs are currently affected in my case, and how severe is the involvement?,How often should I have brain imaging to check for aneurysms, and what size would require treatment?,What blood pressure target should I aim for, and which medication is best for protecting my kidneys?,Are there any activities or sports I should avoid because of my condition?,Should my family members be tested for the COL4A1 mutation, and at what age?,What dietary changes should I make to protect my kidneys?,Are there any clinical trials or research studies I could participate in?
Common questions about HANAC syndrome
What is HANAC syndrome?
HANAC syndrome stands for Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps. It is a very rare inherited condition that affects the small blood vessels throughout the body, particularly in the kidneys, eyes, brain, and muscles. The name describes the main features of the disease: problems with blood vessel walls (angiopathy), kidney disease (nephropathy), bulging blood vessels in the brain (aneurysms), and painful muscle cramps. HANAC syndrome is caused by changes (mutations) in the COL4A1 gene, which provides instructions for making a protein called collagen type IV alpha-
How is HANAC syndrome inherited?
HANAC syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does HANAC syndrome typically begin?
Typical onset of HANAC syndrome is adult. Age of onset can vary across affected individuals.
What treatment and support options exist for HANAC syndrome?
1 patient support program are currently tracked on UniteRare for HANAC syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.