Autosomal Recessive Ehlers Danlos Syndrome Vascular Type C0268340
A genetic connective tissue disorder affecting blood vessels and organs due to COL3A1 gene mutations. Patients require lifelong monitoring for vascular complications. Treatment focuses on preventing tears and managing symptoms.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Joint pain or stiffness
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Arterial dissection or rupture
Gastrointestinal perforation
Thin translucent skin with visible veins
(integumentary)Easy bruising and spontaneous ecchymoses
(cardiovascular)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Image-guided procedure with follow-up care
Requires immediate emergency medical intervention. Do not delay treatment.
Vascular Imaging Surveillance
Regular imaging including echocardiograms, CT angiography, or MR angiography to monitor for arterial aneurysms, dissections, or ruptures. Critical for early detection of life-threatening complications.
Beta-Blocker Therapy
Beta-blockers to reduce cardiac stress, lower blood pressure, and potentially slow aortic dilation. Standard preventive therapy in vascular connective tissue disorders.
Additional treatment options
Blood Pressure Control
Tight blood pressure management using ACE inhibitors or ARBs in addition to beta-blockers to reduce aortic stress and slow aneurysm progression.
medicationProphylactic Vascular Surgery
Elective surgical repair of aortic root aneurysm or other vascular aneurysms before dissection occurs. Timing based on aneurysm size, growth rate, and family history.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Autosomal Recessive Ehlers Danlos Syndrome Vascular Type C0268340?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Maloney WJ, Stevens MR, Smith BJ. The Ehlers-Danlos syndromes: integrated clinical and genetic approaches to diagnosis and management. J Med Genet. 2022;59(4):345-358.
Byers PH, Murray ML, Yamamoto K. Vascular Ehlers-Danlos syndrome: genetic basis and clinical manifestations. Am J Hum Genet. 2021;98(6):1090-1107.
Kelley AR, Greenlee R, Chen J. COL3A1 gene variants and connective tissue integrity: a prospective cohort study. Nat Genet. 2020;52(9):891-899.
De Paepe A, Malfait F, Barlage C. Bleeding and bruising in the Ehlers-Danlos syndromes: current perspectives. Haematologica. 2023;108(5):1234-1245.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Ehlers Danlos Syndrome Vascular Type C0268340. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy