Skip to main content

Vascular Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome


Overview

Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders that mainly affect your body's connective tissues, such as ligaments, tendons, and cartilage. There are 13 types of this condition, with vascular EDS being type IV. While extremely rare, it’s also especially severe. People with this subtype of EDS have very fragile arteries and internal organs

Symptoms

The most common symptoms of vascular Ehlers-Danlos syndrome include:

Skin differences. People with this condition have thinner, translucent and delicate skin (making veins very visible). Certain areas of skin will also age faster than others, especially skin on your hands and feet.

Distinctive facial features. People with this condition usually have unusually thin lips and nose, a small chin and eyes that are large and far apart. They may have very small or no eyebrows. They also are more likely to have very small earlobes or no earlobes at all, and their ears will stick out unusually far.

Circulatory problems. Vascular EDS causes people to bruise more easily. It’s also more common for people with this condition to develop varicose veins at earlier ages. High blood pressure (hypertension) and problems with heart valves (such as mitral valve prolapse) happen very frequently. People with vascular EDS also have a high risk of arterial injuries, including arterial dissections (where inside layers of the artery separate). These can lead to dangerous aneurysms (weakened blood vessel walls that bulge outward) or ruptures.

Fragile internal organs. Collapsed lung (pneumothorax) and ruptured internal organs, causing severe bleeding, are possible dangerous complications.

Skeletal changes. People with this condition often have pectus excavatum (sunken or funnel chest). They are also usually shorter in height than average.

Causes

his condition is genetic, meaning it happens because of a genetic mutation that affects certain parts of your DNA. Your body uses DNA like an instruction manual, following the instructions exactly to determine how your cells and organs do their job. Mutations are like typos in the instruction manual, but your body still follows the faulty instructions.

Vascular Ehlers-Danlos syndrome happens because of a mutation in a gene that affects a protein called collagen III. Your body normally uses collagen III to make certain tissues and structures stronger and more durable. That mutation means your body either doesn't make enough collagen III or makes flawed collagen III that doesn't strengthen various tissues as it should.

Because this condition is genetic, people who have it can pass it to their children. A person with this condition has a 50% chance of passing it to their child with each pregnancy (if both parents have this condition, the chance is 100%).

Diagnosis

A doctor may begin to suspect vascular Ehlers-Danlos syndrome based on your medical history, physical examination, symptoms or a family history of this condition. Once they suspect this condition, they can use genetic testing to confirm or rule out that suspicion. Genetic testing is the only way to be certain of this diagnosis because there are only two genetic mutations known (for now) that cause this condition.

Because this condition is very rare, healthcare providers may perform several other tests, such as an echocardiogram or CT scan, before running genetic tests. The early tests may focus on ruling out blood disorders that increase the risk of severe bleeding or easy bruising. However, genetic testing is the only way to be certain that you have vascular Ehlers-Danlos syndrome

Treatment

Vascular EDS is not curable. This condition is genetic, meaning that it’s a lifelong condition. Because it isn’t curable, healthcare providers will focus on treating and minimizing the impact of any symptoms.

People with vascular Ehlers-Danlos syndrome have a high risk of developing dangerous internal bleeding because of aneurysms and torn arteries. Because of this, you may need regular medical screenings to look for aneurysms if you have this condition. In some cases, you may need surgery to repair internal injuries or aneurysms. Pregnancy can also lead to a high risk of severe or life-threatening complications from this condition, such as rupture of the uterus or severe bleeding.

A healthcare provider is the best person to explain the potential medications, treatments and procedures that you may need. They can best explain what's happening in your situation, taking into account your circumstances and the details of the care you need or receive.

Complications/side effects of the treatment

Because this condition causes you to have very fragile tissues, you will also have a high risk of bleeding. You may also have trouble recovering after surgery for this same reason. A healthcare provider is the best person to explain the potential complications and risks that you may face.

Type of Doctor Department : A vascular specialist (cardiologist or vascular surgeon) 

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Dehydration Due to Diarrheal Diseases

Overview Dehydration occurs when you use or lose more fluid than you take in, and your body doesn't have enough water and other fluids to carry out its normal functions. If you don't replace lost fluids, you will get dehydrated. Anyone may become dehydrated, but the condition is especially dangerous for young children and older adults. The most common cause of dehydration in young children is severe diarrhea and vomiting. Older adults naturally have a lower volume of water in their bodies, and may have conditions or take medications that increase the risk of dehydration. This means that even minor illnesses, such as infections affecting the lungs or bladder, can result in dehydration in older adults. Dehydration also can occur in any age group if you don't drink enough water during hot weather — especially if you are exercising vigorously. You can usually reverse mild to moderate dehydration by drinking more fluids, but severe dehydration needs immediate medical treatment. ...
Post a Comment
Read more

Vogt-Koyanagi-Harada (VKH) Disease

  Vogt-Koyanagi-Harada (VKH) Disease Disease Overview Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of pigmentation) of the hair and eyelashes (poliosis). Signs & Symptoms Vogt-Koyanagi-Harada disease is initially characterized by headaches, very deep pain in the eyes, dizziness (vertigo), and nausea. These symptoms are usually followed in a few weeks by eye inflammation (uveitis) and blurring of vision. This may occur in both eyes at the same time or in one eye first and, a few days later, in the other. The retina may detach and hearing loss may become apparent. The chronic stage follows...
Post a Comment
Read more