About ehlers danlos syndrome

What is ehlers danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes.

The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form's associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance.

Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.

What are the symptoms for ehlers danlos syndrome?

Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People who have vascular Ehlers-Danlos syndrome often share Distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Vascular Ehlers-Danlos syndrome can weaken your heart's largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.

What are the causes for ehlers danlos syndrome?

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there's a 50% chance that you'll pass on the gene to each of your children.

What are the treatments for ehlers danlos syndrome?

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

Medications

Your doctor may prescribe drugs to help you control:

  • Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of treatment. Stronger medications are only prescribed for acute injuries.
  • Blood pressure. Because 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.

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.

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.

What are the risk factors for ehlers danlos syndrome?

Ehlers- Danlos syndrome, EDS, or elastic skin, is a type of disorder that mainly affects connective tissue. It is basically a genetic disorder.

  • E-d syndrome is a dominant or recessive genetic condition.
  • E-d syndrome occurs when only a single copy of an abnormal gene is inherited from either parent or can be the result of a new mutation (gene change) in the affected individual.
  • There are 50% chance of the risk of passing the abnormal gene from an affected parent to an offspring for each pregnancy.
  • The risk is the same for males and females.
  • In certain individuals, the disorder is due to a spontaneous genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents.
  • There is 25% chance of the child getting affected by the disease if both the parents are carriers of the disease. The risk to have a child who is a carrier like the parents is 50% with each pregnancy.
  • When someone in the family is diagnosed with EDS, it is important to contact a physician for further evaluation and to determine the mode of inheritance in the family.


Symptoms
Joint hypermobility,Loose, unstable joints that dislocate easily,Joint pain and clicking joints,Extreme tiredness (fatigue),Skin that bruises easily,Digestive problems, such as heartburn and constipation,Dizziness and an increased heart rate after standing up
Conditions
Rare inherited conditions that affect connective tissue,Joint hypermobility,Fragile skin may develop prominent scarring,Fatal ruptures of major blood vessels
Drugs
Over-the-counter pain relievers such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve),Surgery

Is there a cure/medications for ehlers danlos syndrome?

Though there is no cure for Ehlers- Danlos syndrome, certain medications can help you and prevent severe complications. If e-d syndrome is genetic, then it cannot be prevented.

You can prevent the symptoms by protecting the skin by using sunscreen, reducing the use of harsh soaps and avoiding lifting heavy weights.

When consulting a doctor, they may examine you as follows-

  • Physical examination is done so as to check if your elbows, fingers, waist, and knees can bend or not.
  • Skin stretching is done so as to check for any scars.
  • This is hereditary, so the doctor may ask you accordingly.
  • An echocardiogram is done to check for heart and blood vessels.
  • Computerized tomography (CT) scan, Magnetic resonance imaging (MRI) is done to check for more severe complications.
  • For abnormalities with collagen, a biopsy is done to check which type of e-d syndrome you have.
  • To relieve pain, they may prescribe acetaminophen, ibuprofen, and naproxen sodium.
  • They may advise on primary treatment by doing exercise to make muscles strong.
  • Even orthopedic surgeries are performed to repair joints, but they cannot be healed completely.
  • Blood pressure is kept low so as to protect the blood vessels.
  • Physiotherapy can be helpful for maintaining balance.
  • Ascorbic acid is given to avoid bruising.
  • For bones, calcium supplements are given.
  • Vitamin C helps the body with collagen, and so Vitamin C is recommended.
  • One can get relief from such medications and help you from further complications.


Symptoms
Joint hypermobility,Loose, unstable joints that dislocate easily,Joint pain and clicking joints,Extreme tiredness (fatigue),Skin that bruises easily,Digestive problems, such as heartburn and constipation,Dizziness and an increased heart rate after standing up
Conditions
Rare inherited conditions that affect connective tissue,Joint hypermobility,Fragile skin may develop prominent scarring,Fatal ruptures of major blood vessels
Drugs
Over-the-counter pain relievers such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve),Surgery

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