A guide to Vascular Ehlers-Danlos syndrome By: Tazmeen Siddique

Introduction

The Ehlers-Danlos syndrome (EDS) are a group of 13 different heritable, connective tissue

disorders. Connective tissues offer support in the skin, tendons, ligaments, blood vessels,

internal organs and bones. Each different condition is caused by a distinct, genetic mutation

that has its own symptoms and features. Vascular EDS is a rare type of Ehlers-Danlos

syndrome that is often considered the most serious. This type causes blood vessels and internal

organs to be extremely fragile which allows tearing and/or rupturing. If your blood vessels tear,

bulge or rupture, there can be severe, life-threatening internal bleeding. When internal organs

rupture, the consequences are generally internal bleeding, organ failure, severe infection if

toxic contents are spilled into the body and death if this goes untreated. Typically, patients

that have Vascular EDS have pathogenic variants in the COL3A1 gene.



Causes

The COL3A1 gene creates type III collagen, which is a structural protein that supports the

connective tissues in the body and gives it strength. In Vascular Ehlers Danlos syndrome,

pathogenic variants affect the COL3A1 gene; this causes a mutation in the gene that leads to

your body not producing enough collagen III or your body producing flawed collagen III that

doesn’t serve enough strength in the various tissues like it should. Due to this condition being

genetic, children can inherit this disorder. When this happens to people with no family history

containing this condition, this means that the person has developed this mutation naturally.

Symptoms

Symptoms that individuals with Vascular EDS may have:

- Skin that bruises very easily

- Thin skin with visible blood vessels, concentrated especially on the upper chest and legs

- Fragile blood vessels

- Certain areas of skin may age faster than others, particularly on your hands and feet

- Hypertension (high blood pressure)

- Pectus excavatum (sunken or funnel chest)


Diagnosis

Based on your medical history, physical examination or family history, a doctor can suspect

Vascular Ehlers-Danlos. Then, they can use genetic testing to confirm this condition in you.

Genetic testing detects 98% of the changes in the gene for Vascular EDs to be detected.

Another method can be DNA analysis where the COL3A1 are extracted from the blood, cells

in your saliva or other tissues. Once extracted, doctors may complete duplication/deletion

analysis and biochemical (protein-based) testing with the gene.

Treatment

Vascular Ehlers Danlos syndrome is not curable. This is a genetic condition which means that

this is a life-lasting condition. As it is not curable, healthcare providers have focused on

treating and minimizing the impact of the symptoms to ensure improvement in quality of life.

Regular medical screenings are taken to look for any aneurysms (a bulge or ballooning in a

weakened area of an artery wall) because people with Vascular EDs are prone to internal

bleeding. This allows for early detection and intervention in some possible life-threatening

cases. In some events, you may need surgery to repair any internal injuries or aneurysms.

Maintaining an optimal blood pressure and heart rate is important to reduce any stress on

weakened blood vessel walls. Genetic counselling is crucial for any families that are affected by

Vascular EDs; they provide information about the inheritance patterns, recurrence risks and

recommendations of avoiding risky activities. Light aerobic activity is encouraged to maintain

cardiovascular health. Preventing constipation is vital to avoid intestinal ruptures. Pregnancy

will be closely monitored by a specialist team. Physicians often prescribe cardiovascular

medications to lower blood pressure and reduce stress on weakened arterial walls.

Life with Vascular EDS

When you are living with Vascular Ehlers Danlos disorder, you have to balance an active daily

routine with the unpredictable threat of spontaneous internal bleeding or organ/artery

ruptures. Contact sports, heavy weightlifting and strenuous exercises that spike blood pressure

must be avoided due to the risk of traumatic vascular rupture.


Statistics

Approximately, Vascular Ehlers-Danlos syndrome affects 1 in 100,000-200,000 people and

this accounts for 5% of Ehlers-Danlos cases. Between 80% to 85% of individuals will experience

a major vascular, gastrointestinal, or obstetric complication (such as arterial dissection, bowel

rupture, or uterine rupture) by the age of 40 to 43 years. Historically, the median survival was

estimated between 48 and 51 years.


Why awareness matters

It’s important to learn about Vascular Ehlers Danlos syndrome because more recognition

allows for proactive medical care that will improve survival and quality of life. Patients with

Vascular EDs face high risk of arterial or organ rupture, aneurysm and cardiovascular issues.

Outward appearances do not always reflect the internal suffering. Due to the condition being

rare and life-threatening, you can recognize symptoms and understand the condition which

allows patients and families to alert medical teams and help those they love with Vascular EDs

live a safer life. Developing awareness opens your mind and changes your perspective for any

meaningful change. Due to Vascular EDs being very rare, many healthcare professionals have

never treated a patient of this diagnosis. The lack of knowledge will often result in

misdiagnosis and delays in appropriate care. More awareness will allow for more research to go

into research and support so that people with Vascular EDs can live a safer life.


Sources

Vascular Ehlers-Danlos Syndrome - UK Registered Charity. (2020).

Annabelleschallenge.Org. https://www.annabelleschallenge.org/vascular-eds

Cleveland Clinic. (2022, April 10). Vascular Ehlers-Danlos Syndrome: Causes,

Symptoms and Treatment. Cleveland Clinic.

https://my.clevelandclinic.org/health/diseases/22696-vascular-ehlers-danlos-syndrome


NHS. (2022, October 4). NHS-Ehlers-Danlos syndromes. NHS.

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

Wright, K. (2020, October 19). Coming to Terms with My VEDS Diagnosis. The VEDS

Movement. https://thevedsmovement.org/2020/10/19/coming-to-terms-with-my-veds-

diagnosis/

Serwet Demirdas, Lisa, Lechner, R., Bos, J., Alsters, S. I. M., Baars, M. J. H., Baas, A.

F., Özlem Baysal, van, Eelco Dulfer, Noor A.A. Giesbertz, den, H. van, Hilhorst-Hofstee,

Y., Kempers, M. J. E., Komdeur, F. L., Loeys, B., Daniëlle Majoor-Krakauer, Ockeloen,

C. W., Eline Overwater, … Houweling, A. C. (2024). Vascular Ehlers-Danlos Syndrome:

A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

[Review of Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study

in a Dutch National Cohort of 142 Patients]. American Heart Association, 17(3).

https://doi.org/10.1161/circgen.122.003978

Comments

Post a Comment

Popular posts from this blog

Understanding Ehlers-Danlos Syndrome (EDS) By: Zella Shanks (Current Campaign)

Image
  Introduction   What is Ehlers-Danlos Syndrome (EDS)? Ehlers-Danlos Syndrome, also known as EDS, is a group of genetic disorders that affect the body’s connective tissues. Connective tissue is found almost everywhere in the body and helps hold everything together, including your own skin, joints, muscles, and blood vessels. People that have Ehlers-Danlos Syndrome have problems with collagen, which is one of the many main proteins that gives connective tissues its strength and flexibility. When collagen doesn’t work the way it’s supposed to, the body’s tissues become weaker and more likely to stretch or to get injured. Why Is It Important?    Even though EDS isn’t very well known, it can have a huge effect on someone’s everyday life. Many people deal with ongoing pain, fatigue, joint injuries, and other symptoms that can make normal activities more difficult. While there isn’t a cure yet, getting diagnosed early and learning how to manage the condition can ...
Read more

Uncovering the Clinical Characterization and Mechanisms of Fibrodysplasia Ossificans Progressiva (FOP) By: Sharen Rego

Image
 Introduction Fibrodysplasia Ossificans Progressiva or FOP is an exceedingly rare, yet severely disabling genetic disorder, characterized by the abnormal formation of bone tissue outside of the normal human skeleton (heterotopic ossification). This can occur within soft tissues like the skeletal muscles, tendons, and ligaments. With an estimated one in two million people affected globally, FOP represents one of the most complex genetic conditions known to modern medicine. Raising awareness for this disorder is crucial, as early symptoms are often misdiagnosed as cancer, leading to harmful medical interventions like biopsies or routine muscle injections which trigger irreversible bone growth. Main Body At the cellular level, FOP is caused by a specific mutation in the ACVR1 gene located on chromosome 2. This gene provides instructions for making a specialized receptor protein that controls when and where the body builds bone tissue (such as during fetal development or when healing a...
Read more

Understanding Cystic Fibrosis

Image
Blog written by Alyza Kour - Reasearch Lead of Teen Med Spot   Mucus in our body is more than just “gross stuff” coming out our nose when we have a cold, it’s actually a vital protective layer. Its job is to line our lungs, digestive tract, and other organs to keep them moist and to trap dust, bacteria, or virusese so your body can get rid of them. Healthy mucus is thin, slippery, and water (Think of it like a layer of liquid soap). ( Cleveland Clinic ) What is cystic fibrosis? It is a genetic disease that causes sticky, thick mucus to build up in your organs (Lungs, Digestive System, Pancreas), blocking and damaging them. ( Cleveland Clinic.org ) What causes cystic fibrosis? Changes to the CFTR gene - called variants or mutations - cause cystic fibrosis. CFTR makes a protein that works as an ion channel on the surface of a cell. Ion channels are like gates in a cell’s membrane that allow certain molecules to pass through. Think of this protein as a “gate” for chloride ions (sa...
Read more