Living with Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, in short, EDS refers to a bunch of hereditary connective tissue disorders. Connective tissues are a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in the human body.

Protein fibers known as collagen and elastin present in connective tissue are very important as they play an essential role in holding together, strengthening, and providing elasticity to body cells and tissues. Defects in collagen lead to symptoms such as abnormally flexible loose joints (articular hypermobility).

EDS is derived genetically and the pattern of genetic varies based on the category of the syndrome. As a result of a continuous genetic mutation, any type of EDS may occur in people with no family history of the disorder. It is very important to diagnose it in the early stages, so it will be easy to provide the right treatment to prevent serious complications.

Complications in Life with EDS

People with EDS encounter lots of difficulties in their daily activities. An individual’s experience with EDS may not necessarily be similar to that of the other person.

Some of the difficulties encountered by the patients who has EDS are:

  • General: EDS affected persons can live like normal people; however, they may feel some constraints in their mobility. A person affected with vascular EDS is prone to serious fatal complications like tearing open of a main blood vessel or organ.
  • Arthritis: Mutation in the genes that in turn affects the collagen can induce arthritis in EDS patients, due to continuous damage to the joints. In this case, patients are advised to avoid extending or locking of their joints too much, since this will lead to chronic arthritis
  • Breathing problem: A few people who have Kyphoscoliosis EDS may face breathing problems. These may happen because of the abnormal bending of the spine sideways as well as forward.
  • Dental problems: Gum and dental disease may frequently happen to the individual with hypermobility type of EDS.
  • Pain: Joint and skin problems are very frequent in a person with EDS, including facile rupturing of the skin, dislocation of joint, etc., that causes pain.
  • Visual impairment: An individual with kyphoscoliosis type of EDS is at risk  for minor to major visual damage. These may occur due to dislocation of the retina from the normal position.

Overcoming EDS

There are many treatment strategies that vary based on the type and severity of EDS. Some of the treatment types that can help in overcoming EDS are mentioned below:

  • General: Since it is an irreversible disease, no permanent cure for EDS is available; the treatment targets the mitigation of symptoms and elimination of complications. On the basis of the individual needs, regular checkups with the dermatologist, physician, ophthalmologist, and orthopedist should be done.
  • Activity restrictions: Persons with Kyphoscoliosis and vascular type of EDS should restrict themselves from critical activities including contact sport like wrestling.
  • Collagen Replacement: Lack or defect of collagen causes EDS. Replacement therapy for collagen helps to increase its levels.
  • Dental care: Individuals with EDS who have dental problems must practice preventive measures for dental care. Gingivectomy is the procedure used to reduce the enlargement of gums.

Tips for living with EDS

It requires constant monitoring of how to remain active, since leading a life with EDS is a lifelong process, and patients need to be managed physically in secure and safe conditions. EDS may lead to deformed connective tissues. Any sudden move by joints and muscles may cause problems.

Taking care during activities is important. However, it is also important that one should never be overprotective.

Some of the common tips or advices are mentioned below:

Adapting activities:

  • Totally avoid activities such as lifting of heavy things as well as contact sports (a sport in which the participants necessarily come into body contact with one another, e.g., martial arts).
  • Equip oneself with proper protective measures for some activities and learn methods that will help in reducing the strain on body parts, especially joints.
  • For keeping oneself healthy and fit, indulge in activities that involve less risk. For example:  swimming.
  • Learn methods through which conservation of the energy can be done and pace the activities when facing problems like fatigue

Support from specialist:

People who have this disorder can get support from healthcare professionals. Some of the tips that they provide are:

  • Learn the right ways of exercising that help strengthen the joints. It is also important to avoid injuries, as well as managing pain, from the physiotherapist.
  • Ask help from the occupational therapist on how to handle daily activities. If necessary, seek advise about the equipment which can help in tackling the situation.
  • Individuals struggling to overcome long-term pain can ask help from counseling and cognitive behavioral therapy (CBT).
  • Learn more from genetic counselor on the cause and inheritance of the disorder.

Reviewed by Susha Cheriyedath, MSc

Further Reading

Last Updated: Oct 26, 2017

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