Do you sometimes get a big blue spot on your body even after a small bump? Or do your skin become so thin that your veins are visible? These can sometimes be symptoms of a rare but very serious disease, although we sometimes don't pay much attention to them. Today we are going to talk about just such a disease, a disease that weakens the connective tissues of the body, especially the blood vessels. This is called Vascular Ehlers-Danlos Syndrome , or (vEDS) for short. Although this may seem a little complicated, let's understand it simply.
What is Ehlers-Danlos Syndrome (EDS)? Is the vascular type dangerous?
Simply put, Ehlers-Danlos Syndrome (EDS) is a group of genetic diseases that affect the connective tissues in our bodies. Now you may be wondering what connective tissues are. They are the things that connect our bodies together and give them strength. For example, things like ligaments, tendons, and cartilage. These are what give our bodies shape, strength, and flexibility.
There are about 13 types of EDS. The vascular EDS (vEDS) we are talking about today is the fourth type (`(Type IV)`). This is the rarest and most serious of these EDS types. People with this condition have very weak blood vessels, that is, the arteries that carry blood, and internal organs inside them (`(internal organs)`) that are very weak and can be easily damaged. It is like thin glass, which can break with even the smallest object.
Who can develop this condition? How common is it?
Because this is a genetic disease , it is often inherited from one or both parents. That means it is hereditary. However, sometimes, even if no one in the family has had this disease before, someone can develop the disease through a spontaneous mutation of this gene.
EDS is a rare disease in general. It affects about one in 5,000 people. Imagine how rarer this type of EDS (vEDS) is. It affects about one in 200,000 or 250,000 people . So it's no wonder that so many people don't know about it.
How does this affect the body?
Vascular Ehlers-Danlos Syndrome (vEDS) is a condition that causes the body's tissues, especially blood vessels (arteries) and internal organs, to lose their strength and elasticity . This can cause people to bruise easily and have a higher risk of internal bleeding from injuries.
Think about it, a small bump on the head is not a big deal for a normal person. But for someone with this condition, a blood vessel inside could burst, or the wall could split (arterial dissection). It's like an old rubber tube, ready to burst at the slightest pressure.
What are the symptoms of Vascular EDS?
Although the symptoms of this disease can vary from person to person, there are some common symptoms that can be seen. Let's take a look at what they are:
- Skin changes:
- The skin becomes very thin, translucent, and delicate , which makes the veins on the body clearly visible.
- The skin in some places, especially on the hands and feet, looks like it has aged faster than in others.
- Distinctive facial features:
- The lips and nose of people with this disease may become unusually thin .
- Small chin .
- The eyes are large and set a little apart .
- Some people have very few eyelashes, or none at all .
- The earlobes are very small, or almost nonexistent . Both ears are set slightly away from the head and may appear to protrude forward.
- Circulatory system problems:
- The body bruises easily . Even if you get hit by something small, you get big blue spots.
- Varicose veins can occur at a younger age than normal.
- High blood pressure (hypertension) and heart valve problems (e.g. mitral valve prolapse ) are common.
- There is an increased risk of arterial injuries. This includes things like arterial dissections . These can lead to dangerous aneurysms (weakening of the blood vessel walls and ballooning) or ruptures.
- Weaknesses of internal organs:
- Dangerous complications can occur, such as lung collapse (pneumothorax) and rupture of internal organs, resulting in excessive bleeding.
- Skeletal changes:
- A sunken chest (pectus excavatum) may be seen.
- They may be shorter than normal.
Why does this situation occur? What is the reason?
We have already said that this is a genetic disease. That means it happens because of a mutation (`(genetic mutation)`) in a gene in our DNA . Think of it, our DNA is like an instruction book that builds and controls the body. Our cells and organs work according to this instruction book. A genetic mutation is like a mistake in this instruction book. But the body follows that incorrect instruction anyway.
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by a mutation in a gene that makes a protein called collagen III . Normally, our bodies use this collagen III to strengthen certain tissues and structures. But because of that gene mutation, either the body doesn't make enough collagen III, or the collagen III that is made has a defect. So it doesn't provide the tissues with the strength they need.
Because it is genetic, a person with this condition can pass it on to their children. If one parent has the condition, there is a 50% chance that the child will inherit the condition with each pregnancy. If both parents have the condition, the child has a 100% chance of inheriting the condition.
Is this contagious?
No. This is not a disease that can be transmitted from one person to another. This is something that is inherited entirely through genes.
How is this disease diagnosed?
A doctor may suspect Vascular Ehlers-Danlos Syndrome (vEDS) based on your medical history, physical exam, symptoms, and whether anyone in your family has the condition. Once that suspicion is raised, genetic testing is done to confirm or rule out the possibility. Since there are two main genetic mutations (currently identified) that cause the condition, genetic testing is the only way to make a definitive diagnosis.
What kind of tests are done?
Because it is a very rare condition, doctors may do several other tests before genetic testing. For example, they may do an echocardiogram (a scan of the heart) or a CT scan . These tests are done first to rule out other blood disorders that can cause excessive bleeding or easy bruising. However, only genetic testing can definitively determine whether you have Vascular Ehlers-Danlos Syndrome (vEDS).
What are the treatments? Can it be cured?
Vascular EDS is not a curable disease. It is a genetic condition, meaning it is lifelong. Since it cannot be cured, doctors focus on managing symptoms and minimizing their impact.
What kind of medication/treatment is used?
People with vascular Ehlers-Danlos syndrome are at increased risk of developing aneurysms (bulging blood vessels) and dangerous internal bleeding due to ruptured blood vessels. Therefore, if you have this condition, you will need regular medical screenings to check for aneurysms. In some cases, surgery may be needed to repair internal injuries or aneurysms.
This condition can also cause serious, even life-threatening complications during pregnancy, such as rupture of the uterus or heavy bleeding.
Your doctor is the best person to talk to about the medications, treatments, and surgeries you may need. He or she can explain everything based on your condition, your personal background, and the details of the care you need.
Are there any complications in the treatment?
Because your tissues are very weak due to this disease, you are at a higher risk of bleeding . Also, it can be difficult to recover after surgery, but this is because of the weakness of those tissues. Your doctor can best explain the side effects and risks that you may experience.
How do I take care of myself/manage symptoms?
Vascular EDS is a complex condition that requires close medical monitoring and frequent visits to doctors . It is so complex that you cannot treat or manage it on your own without the help of a doctor. Therefore, it is very important to follow your doctor's instructions.
Is there a way to prevent this?
Because Vascular EDS is a genetic condition, there is no way to prevent it or reduce the risk of developing it. People with this condition should talk to their doctor about genetic counseling if they are planning to become pregnant or have children. This will help them understand what to expect if their child inherits the condition.
What can I expect if I have this condition? What is the outlook?
People with Vascular EDS are at increased risk of complications and problems related to bleeding or weakened internal tissues and organs.
Most people with this condition will experience at least one serious complication by the age of 20. By the age of 40 , the risk of developing life-threatening complications is about 80% . Statistics show that about half of people with this disease live to be 48 years old .
But don't be afraid to hear this. Because with the advancement of medical science, new ways to manage these conditions are emerging, and people are able to live better lives than before.
How long will this situation last?
Vascular EDS is a condition that is present from birth and lasts throughout life.
How should I take care of myself?
People with Vascular EDS should see a doctor regularly to monitor their condition and check for any new problems.
And also,
- You should avoid dangerous games or activities .
- You should avoid lifting weights or other activities that carry a high risk of injury.
- It is also wise to avoid elective surgery due to the increased risk of excessive bleeding and internal injuries.
When should I see a doctor? / When should I seek emergency treatment?
See your doctor regularly as recommended. He or she will also tell you when you should call or see your doctor, and what symptoms you should be aware of.
In an emergency, that means:
- If you have this condition, you should seek emergency medical attention immediately if you experience severe pain for no apparent reason, especially in the chest or abdomen .
- Also, if you have an external wound that is bleeding heavily or is oozing , seek emergency medical attention immediately.
Final Take-Home Message
It is true that Vascular Ehlers-Danlos Syndrome (vEDS) is a complex, genetic disease. It requires close medical monitoring and care. This may sound scary to you, but remember that thanks to advances in medicine and understanding of the disease, people with the condition can now live longer and better lives than in years past. Therefore, it is important to follow your doctor’s advice and take care of your health. If you or someone you know has any questions about this, don’t hesitate to talk to a doctor.
` vascular ehlers-danlos syndrome, veds, ehlers-danlos syndrome, eds, genetic disorder, connective tissue, fragile arteries, easy bruising, skin diseases, genetic diseases, blood vessels
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