HEALTH

Get Know More about Knowing the Vascular Ehlers Danlos

People who suffer from vascular Ehlers-Danlos syndrome often share different facial features such as a thin nose, thin upper lip, small earlobes, and bulging eyes. They also have thin, translucent skin that can be bruised very easily. People with fair skin can even visibly notice their underlying blood vessels through the skin.

What is Vascular Ehlers Danlos Syndrome?

This is basically a genetic disorder that adversely affects the connective tissues of the body. The entire body’s organs and cells and parts are held together by these connective tissues. These tissues also help the body in growth and development. These connective tissues are composed of a protein. This protein is called Collagen III which controls the connective tissues. A gene called COL3A1 is important in producing and controlling the production of collagen III. Any genetic mutations in COL3A1 can result in defective collagen III throughout the body or a decrease in the amount of normal collagen III in the body. This causes the medical problems associated with Vascular Ehlers Danlos Syndrome.

As collagen III is found in the entire body, this genetic dysfunction can affect various parts of the body. It may include arteries, skin, lungs, and hollow organs. This disease makes these parts of the body fragile and prone to tear, which can be life-threatening.   

Although this disease may vary from person to person is mostly diagnosed when someone notices that they easily and frequently get bruised and that too without any reason as well as all of a sudden bowel and arterial tears or ruptures. On the other hand, some people may witness distinctive facial features, thin skin, and weak tissues. 

How To Live with VEDS

VEDS is generally present in people since they are born, but features of the condition are not visible from the beginning.  Some people have signs of VEDS at birth or at a young age such as conditions like congenital clubfoot, hip dislocation, limb deformity, and visible veins. Bruising may not be a major concern when a baby is an infant, but it may become visible as the child starts moving around. When a child is seen because of bruising, a potential VEDS diagnosis is not mostly feared by the healthcare professionals performing the examination, especially if there is no family history of the condition. Some children (or babies) have fewer symptoms when they are young, and then develop severe symptoms as they near their puberty. 

The risks of the life-threatening state of this genetic dysfunction can rise with an increase in age. Therefore, it is highly significant for people with VEDS to get accurate, early diagnosis and screening. If the condition is not monitored timely then the risk for life-threatening problems is greater. The earlier the problem is found, the easier it is to deal with the healthcare changes and form a care plan that can mitigate the risk of worsening of the patient’s medical state. Most children with VEDS who are found suffering from this disease before 18 years of age are mainly diagnosed because of positive family history.

Major health complications in childhood are very less likely and death prior to the age of 10 is also very rare. However, in late childhood, some of the facial features of VEDS become more visible, bruising may increase because of being more mobile, spontaneous pneumothorax (lung collapse) might happen, and colonic ruptures may also occur.

By the age of 20, about 25% of patients with a known VEDS diagnosis have had a major medical complication, which included bowel rupture, arterial rupture, or lung collapse. Some people with VEDS might also experience a prematurely aged look, particularly on the limbs of old appearing hands and feet. Even with these visible features, the diagnosis is not easily reached because VEDS is thought to be a rare medical condition and most physicians have only heard about it.

Symptoms of Vascular Ehlers-Danlos syndrome, or VEDS:

Some people develop signs of Vascular Ehlers-Danlos syndrome, or VEDS, with a noticeable physical appearance, while others do not have any visible signs of the condition. The visible signs of VEDS are:

Every person’s experience with Vascular Ehlers-Danlos syndrome is slightly different. Some may have every feature, some may have only a few features, and other people have different combinations of features. Some people may not have outward signs at all. Some signs of VEDS are easier to see than others. These include:

  • Thin, translucent skin from which veins are visibile.
  • facial features may appear such as thinner lips and/or nose, small chin, large or bulgy eyes
  • wrinkled and premature aged looking of the hands and feet
  • Small joints may become hypermobile
  • Gum becomes weak and fragile.
  • a hip dislocation or clubfoot by birth
  • fragile muscles and may rupture
  • cornea of eye bulges outward causing thinning
  • appearance varicose veins
  • frequent and easy bruising that is not explained by other causes
  • Appearance of a carotid-cavernous sinus fistula (engorgement and redness of the eye)
  • Sleeping with the eyes open or partially open.

Is VED an inherited disease?

Mostly half of the people with Vascular Ehlers-Danlos syndrome inherited the COL3A1 mutation from parents. The others have a sudden disease-causing mutation (called a de novo mutation) that occurred in either the egg or the sperm that gave rise to the pregnancy. As a result, they are the first person in their family to have Vascular Ehlers-Danlos syndrome without being inherited from a parent, and can now pass it on with a 50 percent chance of transmission with each pregnancy.

When the father or mother has VEDS, each offspring has a 50 percent chance of inheriting the altered copy of the gene. Male and female children are affected in equal proportion. During reproduction, each parent passes on only one of the two copies of each gene. If the altered copy of the gene is passed on, then the resulting child will resemble the parent who has VEDS and develop features of the condition. This pattern of inheritance is referred to as autosomal dominant.

Is VEDs curable?

There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent any medical complications.

1-Medications

Your doctor may prescribe drugs to help you control Pain. Stronger medications are only prescribed for acute injuries. Since blood vessels are more fragile in some types of Ehlers-Danlos syndrome, your doctor may want to reduce the stress on the vessels by keeping your blood pressure low.

2-Physical therapy

Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles and stabilize joints are the primary treatment for Ehlers-Danlos syndrome. Your physical therapist might also recommend specific braces to help prevent joint dislocations.

3-Surgical and other procedures

Surgery may be recommended to repair joints damaged by repeated dislocations or to repair ruptured areas in blood vessels and organs. However, the surgical wounds may not heal properly because the stitches may tear through the fragile tissues.

Hence, severely loose joints, fragile or wrinkled skin, and a family history of a genetic disorder of Ehlers-Danlos syndrome are often sufficient to make a diagnosis. Genetic tests on a sample of blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. However, with timely screening, the impact of the disease can be managed using medicines, physical therapy, or surgical procedures.