Living with Lethal arteriopathy syndrome due to fibulin-4 deficiency
A rare inherited condition of the blood vessels, mainly the aorta and lung arteries, noticed in newborns and infants.
Understanding Lethal arteriopathy syndrome due to fibulin-4 deficiency
The main artery from the heart (the aorta) and its branches, and the lung arteries, become widened, lengthened, and twisted, with narrowed spots. Other features may include loose skin, a long space between nose and lip, long fingers, loose joints, and chest wall differences.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary mentions these features:
- Widened, twisted aorta and its branches
- Narrowed lung arteries
- Loose skin (cutis laxa)
- Long, thin fingers (arachnodactyly)
- Loose joints
- Chest wall differences (pectus)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in EFEMP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the EFEMP2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal arteriopathy syndrome due to fibulin-4 deficiency.
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