EuropeResearch and clinical trials
Blood pressure drug irbesartan reduced vascular events over two years in vascular EDS
Irbesartan was tested in a trial with 57 adults with vascular EDS.
Peer-reviewed publicationVascular EDS
Heart and blood vessel diseases
Vascular Ehlers-Danlos syndrome (vEDS)
An inherited connective tissue disease. Blood vessels, the bowel and the womb can tear easily. The skin is thin and bruises easily.
Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source
Orphanet has a guideline for emergency doctors for this disease (language: French, Polish, German, English, Spanish, Italian, Portuguese). See on Orphanet
This page is translated from the Turkish original.
This disease is followed through the “Heart and blood vessel diseases” group.
Understanding the disease
This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.
What happens in this disease?
The connective tissue that holds the body together is weak. In most people, a change in the COL3A1 gene disturbs the making of collagen. Collagen is a protein that gives tissue its strength. This is why blood vessels and some organs can tear easily.
Which symptoms can occur?
Symptoms vary from person to person. The following may be seen:
- Very easy bruising
- Thin skin, with small blood vessels visible especially on the chest and legs
- Bulging or tearing of blood vessels, with internal bleeding as a result
- Tearing of the bowel
- Tearing of the womb late in pregnancy
- Partial collapse of a lung
- Facial features such as a thin nose and lips and large eyes
- Varicose veins and wounds that heal slowly
How is it diagnosed?
The doctor asks about the person's and the family's history and does an examination. The diagnosis is confirmed with a genetic test on a blood sample. Imaging such as ultrasound, MRI or CT is used to monitor the blood vessels.
Treatment and care
There is no approved treatment specifically for this disease yet. Research is ongoing. The aim of care is to prevent serious problems. Blood pressure is measured regularly and treated early if it is high. The blood vessels are monitored with ultrasound, MRI or CT. Avoiding heavy lifting and contact sports may be advised. Pregnancy is followed by a team experienced in high-risk pregnancy. Operations that are not necessary are weighed carefully. The doctor who follows the disease decides which treatment is suitable.
For the family: inheritance and genetic counselling
The disease is passed on through dominant inheritance. This means one copy of the changed gene is enough. For each child of an affected parent, the chance is 1 in 2. Sometimes it appears with a new gene change, with no one else in the family affected. Even within one family, severity can differ. Genetic counselling helps the family understand their risk.
Source: NHS: Ehlers-Danlos syndromes · NORD: Ehlers-Danlos Syndrome · MedlinePlus Genetics: Ehlers-Danlos syndrome
Key facts
- How common is it?
- Prevalence: 1-9 per 100 000 (Worldwide)
- How is it inherited?
- Autosomal dominant · Autosomal recessive
- When does it usually start?
- Infancy, Newborn period
- Gene(s) involved
- COL3A1
- Reliable sources
- MedlinePlus (for families) · Orphanet
These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.
You are not alone: patient associations in Türkiye
Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.
We could not find a patient association specific to this disease.
For all rare diseases: Nadir Hastalıklar Federasyonu
Support and help
- In an emergency in Türkiye, call 112.
- For psychological and social support, the ALO 183 Social Support Line (24/7, free from within Türkiye): alo183.aile.gov.tr
- For carers: Looking after yourself as a caregiver
- Preparing for a doctor visit · Collect your questions and symptom notes on one page, then print it and take it with you.
Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.
News about Vascular EDS
Clinical trials (ClinicalTrials.gov)
A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.
This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.
Questions you can ask your doctor
- Could this trial be suitable for us?
- If we take part, how would current treatment and check-ups be affected?
- Where does the trial take place, and how are travel and accommodation handled?
- What happens if we want to leave the trial?
ClinicalTrials.gov lists 3 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.
Selected records (studies with a site in Türkiye first):
- Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in Patients With Vascular Ehlers-Danlos Syndrome
Late stage: the effect is being compared in a large group · Phase 3 · investigational (experimental)RecruitingNCT05432466
- Heart Coherence Training on Vascular Ehlers-Danlos Syndrome Patients
Non-drug study (device, procedure, care, etc.)RecruitingNCT05994664
- An Exercise and Lifestyle Programme for Adults With Vascular Ehlers-Danlos Syndrome: A Feasibility Study
Non-drug study (device, procedure, care, etc.)Not yet recruitingNCT07697573
See all studies on ClinicalTrials.gov · Joining clinical trials
Heart and blood vessel diseases: other news
TürkiyeResearch and clinical trials
12 children with Marfan syndrome in Ordu: half had widening at the root of the main artery
The heart findings of children with Marfan syndrome were studied at Ordu University.
Peer-reviewed publicationMarfan
TürkiyeResearch and clinical trials
Families of children with inherited heart rhythm disorders experience anxiety: a 53-patient study from Hacettepe
Hacettepe University measured anxiety in children with inherited rhythm disorders and in their families.
Peer-reviewed publicationLong QT syndrome
ThailandResearch and clinical trials
Ablation reduced dangerous rhythm episodes in Brugada syndrome
In Thailand, a trial was carried out in patients with Brugada syndrome who had an implanted shock device (defibrillator).
Peer-reviewed publicationBrugada
Medical codes (for talking with your doctor and finding sources)
These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.
Orphanet code: ORPHA:286
No separate ICD-11 code; WHO classifies this disease under: LD28.1Y
Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.
This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.