Ehlers-Danlos Syndrome

However, some people are born with a group of disorders that affect the very connective tissues of the body. This is called Ehlers Danlos Syndrome.
People with this condition usually have overly flexible joints and stretchy, fragile skin. They can be classified into six subtypes. The most common kinds include:

• Classical
• Hypermobile
• Vascular

Ehlers Danlos Syndrome is a congenital genetic disorder—the condition may be inherited or it could be caused by a spontaneous genetic mutation in the egg or sperm cell.

Scientists believe that the syndrome is caused by mutations in the genes responsible for making collagen (COL3A and COL5A) or genes associated with collagen processing (PLOD1, ADAMTS2), or the genes for extracellular matrix components (TNXB).

The defective gene weakens the process of formation of collagen, which happens to be the main component of the connective tissue. 

Collagen, the most abundant protein in the body, is crucial for maintaining the structure of the body.

Data show that females may be more prone to Ehlers-Danlos syndromes than males.

The symptoms of classical Ehlers-Danlos syndrome include:

• Muscle fatigue
• Benign growths on pressure areas, like elbows and knees
• Heart valve problems
• Muscle pain 
• Loose joints
• Highly elastic, velvety skin
• Fragile skin that bruises easily
• Redundant skin folds on the eye

The symptoms of vascular Ehlers-Danlos syndrome may include:

• Protruding eyes
• Thin lips
• Sunken cheeks
• Small chin
• Collapsed lung
• Heart valve problems
• Thin and transparent skin

The symptoms of hypermobile Ehlers Danlos syndrome, the most common form of the disease, include:

• Chronic degenerative joint disease
• Premature osteoarthritis
• Chronic pain
• Heart valve problems
• Loose joints (double-jointed)
• Easy bruising

To diagnose this condition, the doctor will conduct:

• A physical exam: The doctor will see how far you can bend your joints, including the joints of your arms, fingers and legs, etc. He/she may also examine your skin by pulling at it to check for stretchiness and any scars. The doctor will also ask questions about your family’s medical history and whether someone in your bloodline has experienced similar symptoms in the past.
• Tests: Tests that may be advised include:
  • An echocardiogram, which uses sound waves to generate moving images of the heart. This is recommended in case the doctor thinks there may be abnormalities in the blood vessels or the heart.
  • For a biopsy, a small sample of the skin may be taken to look for traces of abnormal collagen. The doctor may also compare it to samples to help identify the type of EDS one has.
  • DNA testing may be done if you yourself have EDS and want to check if you have passed it on to your unborn child. DNA testing can help in figuring out whether the embryo contains the faulty gene. This form of testing is most commonly done during in vitro fertilization.

Currently, a three-step treatment plan is followed:

• Drugs to minimize pain and other symptoms: This includes both over-the-counter medication as well as prescribed medicines. Calcium and vitamin D supplements are also given to strengthen the bones. With certain kinds of Ehlers-Danlos syndromes, the blood vessels may become fragile. Your doctor may prescribe hypertension or high blood pressure medication to limit the damage to blood vessels due to normal wear and tear.
• Surgery to repair damaged joints due to hypermobility
• Physical therapy makes up an important part of the treatment, especially in children. Both exercise and physical therapy help in toning muscles—they also improve coordination. With stronger muscles, one is less likely to dislocate a joint, which is a common occurrence in those with this condition.

Some potential complications of this syndrome are:

• Difficulty in healing surgical wounds and other deep wounds 
• Wounds may lead to prominent scarring (read more: Scars)
• Chronic joint pain and dislocation
• Early-onset of arthritis
• Rupturing of vessels
• Aortic aneurysm 
• Complications in pregnancy, including premature rupture of membranes

If you or someone you know has been diagnosed with Ehlers Danlos syndrome, you can take the following precautionary measures:

• Avoid contact sports like karate, football and boxing to reduce the risk of injury to joints. Instead, pick activities like swimming, walking or yoga to get adequate exercise.
• If you have been diagnosed with this syndrome, it may be a good idea to completely avoid lifting weights.
• Since the skin becomes excessively fragile, use sunscreen to protect it from damage. 
• In order to avoid allergic reactions, avoid harsh soaps. They might overdry the skin and result in further irritation. 
• In case your child has this syndrome, ensure proper padding and multiple layers of protection when they are beginning to walk or learning how to ride a cycle. Also, make sure they wear protective clothing to prevent cuts and bruises. 
• Use a toothbrush with soft bristles 
• Avoid chewing gum and ice in order to protect your jaw joint

In case you are experiencing symptoms like stretchy skin or being able to bend your joints much more than others, or you have a blood relative who has Ehlers-Danlos syndrome, it is important to approach a medical practitioner.

Ehlers Danlos syndrome is a rare condition. It can be taxing, both physically and mentally. It is, therefore, important to educate yourself and inform those around you about this syndrome, so that they can support you better.