What is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is a group of genetic connective tissue disorders.  

Connective tissue is principally the glue that holds the body together.  The human body is  composed of four kinds of tissue: nervous, muscular, epithelial and connective tissue.  Connective tissue is the most profuse, widely distributed and varied tissue within the human body.  It includes fibrous tissue, cartilage, bone, bone marrow, fat and blood.  As the word connective implies connective tissue binds other organs together, holds organs in place, cushions and protects them and fills space within the body.

In patients with Ehlers-Danlos Syndrome it is the collagen that is defective, weak and fragile.  Problems arise in making or using one of the types of collagen.  Collagen is the most abundant protein in the human body and is the substance that holds the whole body together.  It is found in the skin, muscles, ligaments and tendons, organs, gums, eyes, blood vessels and so on.

Due to the fact collagen plays such a significant role within the body and the fact it is defective can give rise to a wide array of multi-systemic conditions, varying in severity as well as being extremely unpredictable in nature.

During May 2016 The Ehlers-Danlos society held its first international symposium on the Ehlers-Danlos syndromes in NewYork City, funded by EDS UK and the society themselves.  The symposium saw medical professionals from across the globe meet to discuss the primary goal of reclassifying the diagnostic criteria for all types of Ehlers-Danlos Syndromes.  The publication has now been released which comprises of thirteen types of Ehlers-Danlos syndromes.  Click the link below which will take you to the Ehlers-Danlos Society website where you can obtain more information  on the reclassification, types, research and diagnostic criteria.

Click here for further reading on the new reclassification

Symptoms-

No two Ehlers-Danlos patients are the same.  The type of EDS you have will determine what kind of symptoms you will experience as well as how the condition manifests in you, which differs in severity and unpredictability across the board.  There is often a mix of types encountered in patients. I could not discuss all symptoms and complications of EDS here as the list would become extremely long as sadly EDS has the capability of effecting every structure of the body.  I will touch on a few of the more common symptoms below.

*Please bare in mind if you are diagnosed with EDS it does not necessarily mean you are going to be affected by all the symptoms below*

Joints- 

Hypermobile joints; loose/unstable joints which are prone to dislocations and/or subluxations.  Hyper-extensible joints which move beyond the joints normal range.  Early onset osteoarthritis.

Skin-

The skin often presents as very soft and velvet like.  Skin hyper-extensibility and skin that tears or bruises very easily.  Slow and poor wound healing and severe scarring are often noted.

Pain-

Early onset chronic musculoskeletal pain. At this junction I could cover a lot more regarding pain as it is often very wide spread and unremitting.

Organ fragility/rupture/Hernia-

Arterial, intestinal and uterine fragility, rupture and/or hernia.

Mitral Valve prolapse-

One or more of the mitral flaps are floppy and do not close properly often leading to a back flow of blood otherwise known as mitral valve regurgitation.

Gastrointestinal manifestations-

Gastric dysmotility whereby the muscles of the digestive system become impaired and changes in the speed, strength and coordination in the digestive organs occurs.  This can be due to abnormalities with the muscles or nerves and often both combined.  This can lead to diarrhea, constipation, pain, heartburn, gastritis, nausea, vomiting, cramping, appetite changes, weight loss, malnutrition and sometimes obstruction.  Hernias within the abdominal cavity are seen and dysmotility within the oesophagus, colon and stomach.  The aforementioned dysmotility can also give rise to various chronic and troublesome bacterias such as SIBO and H-Pylori.  Some EDS patients are fed through a nasal gastric tube due to full intestinal failure and will then have a J-peg placed which feeds directly into the small bowel, sometimes the body can reject this after time and for those patients they are then commenced on Total parenteral nutrition (TPN) whereby fluids are given directly into a vein and bypass the GI system entirely.

Autonomic dysfunction (POTS)-

Postural Orthostatic tachycardia syndrome can be a life changing condition and can often be seen in conjunction with EDS. The abnormality in the autonomic nervous system gives rise to increase in heart rate from lying to standing, nausea, fatigue, palpitations, sweating, fainting, headaches, tremors and much more.  Simply being upright can be a challenge for POTS sufferers.

For more information on the symptoms of the various types of Ehlers-Danlos syndrome you may click on the link below which will take you to EDS UK’s website.

Click for more information on symptoms

*I will discuss throughout my blog in more detail about the various symptoms of EDS and will continue to add more feature articles*