Ehlers-Danlos Syndrome: Everything You should Know about this Genetic Disorder

Written by Dr. Ahmed Zayed
Ehlers-Danlos Syndrome

In older times, the world was only aware of a small number of diseases and ailments that affects the human body. The modern world, however, with many advancements in the medical industry, has allowed medical professionals to identify thousands of different diseases, ailments, infections and other problems that can cause a significant number of issues with the human body.

With these advancements, it becomes possible to develop treatments that allow medical professionals to save more lives than ever before. Even though thousands of diseases have been identified by medical experts, new names are often mentioned as new discoveries are made.

Today, we want to focus on a term that may not be common or even recognizable by many people – Ehlers-Danlos Syndromes, also referred to simply as EDS. This term refers to a series of syndromes that are often inherited. These syndromes are quite rare and can be divided into multiple categories, each describing a particular type of the syndrome that affects the human body in a different way.

We would like to take a closer look at the different types of Ehlers-Danlos syndrome, the symptoms caused by these syndromes and also take a look at how medical professionals go about treating these particular syndromes.

What is Ehlers-Danlos Syndrome?

As we have already discussed, the term Ehlers-Danlos Syndromes is used to describe a collection of disorders and syndromes that are caused by genetics; thus inherited from a previous generation. These syndromes affect different parts of the body’s connective tissue.

The connective tissue that is affected by Ehlers-Danlos syndromes offers important support for numerous bodily organs and bodily tissue, as well as the skin, blood vessels and the bones. Due to the fact that these syndromes tend to affect connective tissue within the patient’s body, the symptoms that become present are associated with defects in connective tissue and also tend to affect the particular parts of the body that depends on the support provided by the regions of connective tissue that is affected.

Ehlers-Danlos

The U.S. National Library of Medicine[1] explains that this genetic condition is relatively rare. They continue to report that, when Ehlers-Danlos Syndrome is discussed in general, without considering any particular type of these syndromes, these disorders seem to affect approximately 0.02% of the global population. That accounts for approximately one in every 5,000 people. Some types of Ehlers-Danlos Syndromes are extremely rare and accounts for less than 100 reported cases worldwide.

What are the Types of Ehlers-Danlos Syndrome?

When it comes to defining the different types of Ehlers-Danlos Syndromes, things can be a little confusing as there are some publications that mention the group of disorders was originally divided into ten types, but these were simplified in recent years. Other reports claim that there are more than ten different types of Ehlers-Danlos Syndromes in existence.

The Ehlers-Danlos Society[2], an international society that has been founded to bring about awareness of these disorders, explains that there are about 13 different types of disorders that are now classified within this group. They also explain that some of these disorders tend to cause similar symptoms and complications than others, but there are some differences that make them fall within their own categories.

The types of disorders that are classified as Ehlers-Danlos Syndromes, according to updated information in 2017, include:

  • Classical EDS, also called cEDS.
  • Classical-Like EDS, also called clEDS.
  • Vascular EDS, also called vEDS.
  • Cardiac-Valvular EDS, also called cvEDS.
  • Arthrochalasia EDS, also called aEDS.
  • Brittle Cornea Syndrome, also called BCS.
  • Dermatosparaxis EDS, also called dEDS.
  • Musculocontractural EDS, also called mcEDS.
  • Kyphoscoliotic EDS, also called kEDS.
  • Myopathic EDS, also called mEDS.
  • Spondylodysplastic EDS, also called spEDS.
  • Periodontal EDS, also called pEDS.
  • Hypermobile EDS.
Ehlers Danlos

What are the Symptoms of Ehlers-Danlos Syndrome?

It is important for the general population to be aware of the symptoms caused by Ehlers-Danlos Syndromes. Becoming wary of these symptoms can lead to early intervention, which may come in handy in the prevention of serious complications – there have been cases where Ehlers-Danlos Syndromes caused life-threatening complications.

Since the body contains connective tissue virtually everywhere, it is important to understand that these disorders can affect any part of the body – and that they can affect connective tissue that affects different types of bodily parts; thus symptoms tend to vary depending on the particular area of the body that is affected, as well as the particular type of Ehlers-Danlos Syndrome a patient has.

Healthline[3] explains that many people may carry the particular gene that causes these disorders without ever knowing about it, but, in other cases, the gene can become dominant, which leads to symptoms and complications developing. They continue to explain that symptoms associated with Ehlers-Danlos Syndromes include:

  • Joints may become loose.
  • Skin may become fragile and bruises easily.
  • The skin may have a velvety appearance and may be very elastic.
  • Muscle fatigue and muscle pain are also relatively common.
  • Problems with the heart valve may develop.
  • In some pressure areas on the body, such as the knees and the elbows, benign growths may develop.

What are the Treatment Options for Ehlers-Danlos Syndrome?

Treatment Options

When a patient has been diagnosed with a disorder that falls within the classification of an Ehlers-Danlos Syndrome, then they need to obtain immediate medical attention and treatment should be administered promptly to avoid further complications and to assist with repairing some of the damage that has already been dealt, if possible.

Note that, even though further complications can be avoided in some cases and the symptoms already present may be managed through medical intervention, there is no known cure for Ehlers-Danlos Syndromes.

Mayo Clinic[4] explains that treatment may include the utilization of medication, as well as some physical therapy and, in more severe cases, a healthcare provider may recommend surgical procedures to help repair damage that joints have undergone due to the disorder.

Medication may include both painkillers to assist with reducing the amount of pain the patient experiences, as well as medication to reduce blood pressure levels if blood vessels are affected by the particular disorder the patient has been diagnosed with.

Read Next: Joint Hypermobility: Common Causes, Signs, Symptoms, Diagnosis And Treatment

Final Words

Ehlers-Danlos Syndrome refers to a group of genetic conditions that affects the human body’s connective tissue. These syndromes can cause a variety of symptoms to develop, which may be mild in many cases, but can also lead to complications that might become life-threatening.

In this post, we described some important symptoms that people need to look out for, as early intervention is important for managing Ehlers-Danlos Syndromes and for preventing these disorders from causing life-threatening symptoms.

Image Credits
Feature Image Credit: shutterstock.com
Inpost Image Credit: youtube.com, maggieboeckmann.blogspot.in, shutterstock.com
Author

Contributor : Dr. Ahmed Zayed ()

This Article Has Been Published on January 31, 2018 and Last Modified on September 25, 2018

Dr. Ahmed Zayed Helmy holds a baccalaureate of Medicine and Surgery. He has completed his degree in 2011 at the University of Alexandria, Egypt. Dr. Ahmed believes in providing knowledgeable information to readers. Other than his passion for writing, currently he is working as a Plastic surgeon and is doing his masters at Ain Shams University. You can connect with him on Linkedin.

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