Overview
Lethal arteriopathy syndrome due to fibulin-4 deficiency is an extremely rare and severe genetic condition that affects the body's connective tissue, particularly the blood vessels. It is caused by mutations in the EFEMP2 gene (also known as the fibulin-4 gene), which provides instructions for making a protein essential for the proper formation and maintenance of elastic fibers in blood vessel walls and other tissues. Without functioning fibulin-4, the walls of arteries become weak, stretched, and prone to life-threatening complications such as aneurysms (dangerous bulging of blood vessels) and arterial rupture. Babies born with this condition typically show signs very early in life, often at birth or shortly after. Key features include widespread arterial tortuosity (twisting of blood vessels), aneurysms of the aorta and other large arteries, loose and stretchy skin, joint hypermobility, and sometimes lung problems. The condition may also affect the skeleton, causing features similar to other connective tissue disorders like Marfan syndrome or cutis laxa. Unfortunately, this condition is described as lethal because most affected infants do not survive beyond the first weeks or months of life due to severe cardiovascular complications. There is currently no cure, and treatment is primarily supportive, focusing on managing cardiovascular emergencies and providing comfort care. Surgical repair of aneurysms may be attempted in some cases, but the fragility of the tissues makes intervention extremely challenging. Genetic counseling is important for affected families to understand recurrence risks.
Key symptoms:
Severe widening or bulging of the aorta (aortic aneurysm)Twisted and elongated arteries throughout the bodyLoose, sagging, and stretchy skin (cutis laxa)Very flexible or hypermobile jointsFragile blood vessels prone to tearingBreathing difficulties or lung problemsSkeletal abnormalities such as long fingers or curved spineHeart valve problemsPoor growth and failure to thriveDistinctive facial featuresHernias (bulging of internal organs through weak spots)Bone fragilityDevelopmental delays
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lethal arteriopathy syndrome due to fibulin-4 deficiency.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Lethal arteriopathy syndrome due to fibulin-4 deficiency at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Lethal arteriopathy syndrome due to fibulin-4 deficiency.
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 Lethal arteriopathy syndrome due to fibulin-4 deficiency.
Community
No community posts yet. Be the first to share your experience with Lethal arteriopathy syndrome due to fibulin-4 deficiency.
Start the conversation →Latest news about Lethal arteriopathy syndrome due to fibulin-4 deficiency
No recent news articles for Lethal arteriopathy syndrome due to fibulin-4 deficiency.
Follow this condition to be notified when news becomes available.
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.What is the expected course of this condition for my child?,Are there any treatments that could help stabilize my child's blood vessels?,Is surgery an option for the aneurysms, and what are the risks?,What palliative care and comfort measures are available?,What is the chance of this happening again in a future pregnancy?,Are there any research studies or clinical trials we could participate in?,Can you connect us with genetic counseling and family support services?
Common questions about Lethal arteriopathy syndrome due to fibulin-4 deficiency
What is Lethal arteriopathy syndrome due to fibulin-4 deficiency?
Lethal arteriopathy syndrome due to fibulin-4 deficiency is an extremely rare and severe genetic condition that affects the body's connective tissue, particularly the blood vessels. It is caused by mutations in the EFEMP2 gene (also known as the fibulin-4 gene), which provides instructions for making a protein essential for the proper formation and maintenance of elastic fibers in blood vessel walls and other tissues. Without functioning fibulin-4, the walls of arteries become weak, stretched, and prone to life-threatening complications such as aneurysms (dangerous bulging of blood vessels) an
How is Lethal arteriopathy syndrome due to fibulin-4 deficiency inherited?
Lethal arteriopathy syndrome due to fibulin-4 deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal arteriopathy syndrome due to fibulin-4 deficiency typically begin?
Typical onset of Lethal arteriopathy syndrome due to fibulin-4 deficiency is neonatal. Age of onset can vary across affected individuals.