If you or someone you know has recently received a diagnosis of vascular Ehlers-Danlos syndrome, you might be feeling overwhelmed with questions: What is this condition? What is the outlook? And how can you get support?
First and foremost, know that you are not alone in this struggle with vascular Ehlers-Danlos syndrome. The answers to your questions and concerns are addressed below. Carry on to find out more information as well as strategies on how to cope with this rare condition.
What Is Vascular Ehlers-Danlos Syndrome?
To start, Ehlers-Danlos syndrome (EDS) is a connective tissue disorder that has a series of subtypes, all with varying symptoms and degrees of severity for each patient. EDS is genetic, which means that it impacts the genes and can be passed down from one family member to the next. This is why looking at a family history of EDS symptoms or unknown medical problems is one of the criteria that helps people with this condition receive a diagnosis.
EDS most commonly impacts the skin, internal organs, and joints of people with the condition. Depending on the type of EDS one has, it can lead to a wide range of complications—from vision trouble to chronic pain, and more.
Vascular EDS, sometimes known as EDS type IV, specifically affects the collagen, cartilage, and other tissues that make up the heart. It can cause certain parts of the heart, like the aorta, to be extra weak or to not function as it should. The connective tissues within the heart are much more fragile than in someone without vascular EDS. This can lead to blood vessel complications, blood pressure concerns, and even aortic rupture.
Vascular EDS is often known as the rare type within this group of connective tissue disorders. There are not as many known cases of this type of EDS compared to the others. Studies show that approximately 5 to 10 percent of all people with Ehlers-Danlos syndrome have type IV.
Medical professionals are still working to understand more about vascular Ehlers-Danlos syndrome, but they have been able to identify the genes that cause this disorder. This condition is autosomal dominant. To put this more simply, this means that if one parent has the gene with the mutation, it is likely to be passed down to their child, even if the other parent does not have any indication of the disorder.
What Are the Symptoms of Vascular EDS?
Many people with EDS of all types experience symptoms from birth but aren’t diagnosed until much later in life. This is because the symptoms can often mirror other conditions, such as fibromyalgia, chronic fatigue, and so on. That said, vascular EDS is unique in that many people with this specific type of connective tissue disorder do not have as many overlapping symptoms with the other types.
Some common symptoms of the other types of EDS would be:
- Body pain
- Fragile skin
- Loose skin
- Hypermobile joints
- Slow healing
While it’s possible that people with vascular EDS can have these symptoms, they aren’t required to be present in order for someone to receive a diagnosis. The diagnostic criteria takes into account the symptoms that somebody is experiencing, a family medical history of the condition, and the internal and outward presentation of the condition.
Interestingly, many people with EDS type IV have distinct facial features. Having thin facial features, particularly in the nose and mouth, in addition to petite earlobes and what are often described as big, bulging eyes would be typical in somebody with vascular EDS.
Additionally, vascular EDS—as well as the classic, hypermobile, and other variations of EDS—comes with co-occurring disorders as well. These co-occurring disorders often impact blood pressure, sleep, diet needs, and the overall quality of life that a person has.
Because the connective tissues of the heart are affected by vascular Ehlers-Danlos syndrome, the symptoms for this specific type can present as cardiovascular concerns. An echocardiogram as well as genetic testing can be used to help diagnose vascular EDS.
There are other classic characteristics of vascular EDS to note that impact all of the other major organs throughout the body. This includes:
- Thin, translucent-looking skin
- Visible veins
- Bruising easily
- Gastrointestinal problems
- Hollow organs
- Organ rupture
Unfortunately, the symptoms of vascular EDS can lead to life-threatening complications. As a result, the average life expectancy of people with vascular EDS is approximately 48 years old. Hearing this news upon receiving a diagnosis can feel extremely overwhelming and frightening.
As with any diagnosis of a rare disease or life-threatening disorder, this can greatly impact one’s mental health. It’s important to get the right support, both emotionally and medically, to best cope with vascular EDS and all of its side effects.
Getting Support for EDS and More
Navigating the diagnosis of vascular Ehlers-Danlos syndrome can be challenging and bring up a swell of emotions. The physical side effects of EDS type IV can lead to skin scarring. Also, since the connective tissues of the organs are so fragile, there’s the possibility for spontaneous damage to occur. These complications can require surgery in some cases.
While there is no cure for EDS, there are ways to manage the physical and mental health symptoms that come with it. First, it’s essential to have a good team of healthcare providers who have knowledge about this condition. This could mean touching base with a cardiologist, geneticist, and even a pain management specialist.
Furthermore, due to the life-threatening nature of vascular EDS, people with this condition should always have a plan in place in case of emergencies. This means having a dedicated hospital as well as the contact information of a family member, friend, or other trusted individual who would need to be informed of any emergencies that arise.
Of course, it’s also important to have mental health support in place. Getting set up with counseling is a great tool to use to manage the anxiety, depression, and other mental health distress that comes along with any new or challenging diagnosis.
Lastly, getting peer support for vascular EDS can be a huge benefit. Not only can this help you to feel less alone with this diagnosis, but by connecting with others, you will have access to a variety of other resources. The network you can connect to through the Pain Resource Community, for example, might lead you to better healthcare providers, more effective symptom management tips, and support you need while you are on this journey.
If you have a family medical history of Ehlers-Danlos syndrome, vascular or otherwise, or if you have any of the symptoms, contact your doctor for more information. Though this is a rare disease, you could still be one of the people who is affected by it.
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