About Ehlers-Danlos syndromes

 

 

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Ehlers-Danlos syndromes (EDS) are a group of conditions that affect connective tissues in the body. In total, there are 13 types of EDS. Most of these syndromes are rare and they all share common symptoms, so let’s take a closer look at what EDS is below.

About Ehlers-Danlos syndromes

All types of EDS cause connective tissues to become weaker. This can affect your joints, skin, bones and internal organs. Connective tissue is also needed to support blood vessels, tendons and ligaments. In most cases, symptoms can be mild, but for an unfortunate few, EDS can be a disabling condition.

Hypermobile EDS is the most commonly experienced and increases the range of joint movement. These loose joints dislocate easily, causing discomfort and pain. It can also cause the skin to be more fragile – typically, someone with EDS will find that their skin bruises and tears more easily.

Who can get EDS?

Usually, EDS is an inherited condition. It can be passed on to a child by one or both parents, depending on the type of EDS. As a parent, you can only pass on the type of EDS you suffer from. For example, if you have Hypermobile EDS, a faulty gene could pass this on to your child, but they will only develop Hypermobile and not Vascular or Classic types. EDS can also occur without being inherited.

How EDS is inherited varies depending on the type. For Hypermobile, Classic and Vascular EDS, this is called autosomal dominant inheritance, where the faulty gene is passed on by one parent. There is a 50% chance that you can pass this on each time you have a child.

For Kyphoscoliotic EDS, it is called autosomal recessive inheritance. In this case, the faulty gene is passed on by both parents, meaning their children have a 25% chance of inheriting the gene.

While you can only pass on the same type of EDS, the severity of symptoms can vary within your family. If you have mild symptoms, there is no guarantee that your child will have mild symptoms as well.

How to diagnose EDS

A rheumatologist can assess whether you have EDS by looking at your medical history, family history and by carrying out a physical examination. They can also order genetic blood tests to confirm your diagnosis.