Overview
CELSR1-related late-onset primary lymphedema is a rare inherited condition caused by changes (variants) in the CELSR1 gene. This gene plays an important role in how the lymphatic system develops and works. The lymphatic system is a network of vessels that helps drain excess fluid from body tissues. When this system does not work properly, fluid builds up and causes swelling, most often in the legs and feet. This condition is called 'late-onset' because the swelling typically does not appear until adulthood, often in the teenage years or later, rather than at birth. The main symptom is persistent, painless swelling (called lymphedema) that usually starts in one or both legs. Over time, the swelling can become permanent and may affect a person's ability to move comfortably. The skin over the swollen area can become thickened or hardened if the condition is not managed well. Some people also experience repeated skin infections (cellulitis) in the affected limb. There is currently no cure for this condition. Treatment focuses on managing swelling and preventing complications. This includes compression garments, special massage techniques called manual lymphatic drainage, exercise, and careful skin care. With consistent management, many people are able to live active lives, though the condition is lifelong. This disease may also be referred to as CELSR1-associated lymphedema or CELSR1 lymphedema.
Key symptoms:
Swelling in one or both legs, ankles, or feetFeeling of heaviness or tightness in the legsSkin that feels firm or thickened over swollen areasRepeated skin infections (cellulitis) in the swollen limbReduced flexibility or range of motion in the affected legAching or discomfort in the swollen areaSwelling that gets worse after standing or walking for long periodsPitting of the skin when pressed (early stages)Hardening of the skin that does not pit when pressed (later stages)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Late onset
Begins later in life, typically after age 50
Treatments
No FDA-approved treatments are currently listed for CELSR1-related late-onset primary lymphedema.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for CELSR1-related late-onset primary lymphedema at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for CELSR1-related late-onset primary lymphedema.
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
Travel Grants
No travel grants are currently matched to CELSR1-related late-onset primary lymphedema.
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 leg or limb is most likely to be affected, and should I watch for swelling in other areas?,What type of compression garment do I need, and how often should I replace it?,Should other family members be tested for the CELSR1 gene change?,How often should I see a lymphedema therapist, and what should I do between appointments?,What are the early signs of a skin infection, and when should I go to the emergency room?,Are there any clinical trials or new treatments I should know about?,Are there any activities or jobs I should avoid to protect my lymphatic system?
Common questions about CELSR1-related late-onset primary lymphedema
What is CELSR1-related late-onset primary lymphedema?
CELSR1-related late-onset primary lymphedema is a rare inherited condition caused by changes (variants) in the CELSR1 gene. This gene plays an important role in how the lymphatic system develops and works. The lymphatic system is a network of vessels that helps drain excess fluid from body tissues. When this system does not work properly, fluid builds up and causes swelling, most often in the legs and feet. This condition is called 'late-onset' because the swelling typically does not appear until adulthood, often in the teenage years or later, rather than at birth. The main symptom is persist
How is CELSR1-related late-onset primary lymphedema inherited?
CELSR1-related late-onset primary lymphedema follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CELSR1-related late-onset primary lymphedema typically begin?
Typical onset of CELSR1-related late-onset primary lymphedema is late onset. Age of onset can vary across affected individuals.