Ehlers Danlos Syndrome

Working in pelvic health, we tend to see patient’s who have seen many other providers in many different specialties.  Due to this, we often spot things that have been missed in other offices.  One thing that we tend to see a lot is  joint hypermobility, pain, and pelvic organ prolapse.  As I have seen more patients with these symptoms, I began to assess and treat people with Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorder.  It has become abundantly clear, that people with EDS and HSD were not always getting the care and management that they needed.  That’s when I started to learn more about this spectrum of diagnoses and how to best help my patients.

What is Ehlers Danlos?

Ehlers-Danlos syndromes are a group of genetic disorders that effect connective tissue throughout the body.  Usually, the symptoms include joint hypermobility and/or dislocations, joint changes, very elastic or flexible skin and fascial weakness that can lead to hernias or pelvic organ prolapse.  It can also show up in changes of the gums, eyes, blood vessels or heart valves.

There are 13 different subtypes of EDS.  In all but the pure hypermobility type of EDS, there are genetic tests that can aid in the diagnosis of a specific syndrome.  However, even without genetic testing, medical providers and PTs can look at the person’s symptoms to aid in the diagnosis.  Of all of the subtypes of EDS, the hypermobility subtype is the most common and is the most commonly missed completely or misdiagnosed.

What Causes Ehlers Danlos?

EDS is caused by a change in the genes that help to make collagen or the proteins that help to make collagen.  The collagen becomes weaker depending on the genes that are at fault in that particular person.  Collagen is one of key components of connective tissue which is a building block of muscles, organs, ligaments and tendons, blood and lymph vessels, etc.  With the increased tissue hyper-elasticity, people may have skin that bruises or tears easily.  They may also have slow healing wounds and significant scarring. 

How does it present?

Joint changes in EDS include pain in the joints and/or surrounding muscles.  The muscles are often tense and weak as well due to the instability of the joint.  Unstable joints are more likely to dislocate or sublux.  This can lead to injury of the joint and surrounding tissues. The unstable joints and muscle weakness can also contribute to nerve pain due to entrapment of the nerve, nerve tension or traction, or hypersensitivity due to inflammation of the surrounding tissues.  People with hypermobility may also have decreased proprioception or awareness of where they are in space and how their body needs to work to complete the task at hand due to the changes in the nervous system. 

When we are seeing patients with suspected EDS, we are also screening patients for other pelvic health and GI issues.  Particularly in the pelvic floor, this increased mobility of the tissue and generalized weakness can contribute to pelvic organ prolapse, when the pelvic organs are descending into the vagina or the rectum. This can lead to constipation, urinary retention or leaking, and pain.  GI issues can include This can include difficulty swallowing, slow movement of food through the stomach and large intestine.  Our patients often complain of nausea or vomiting, acid reflux, abdominal bloating and pain, poor food absorption with significant food intolerances.  They may also complain of bowel and bladder symptoms such as bladder retention or constipation or difficulty fully emptying.  We also need to be mindful that our patients may have difficulty regulating their autonomic nervous system; this can include changes in heart rate, blood pressure, inflammation, and temperature regulation.

How to get help.

A physical therapist with experience with EDS and pelvic health can help you find a doctor, mental health provider and any alternative therapy providers that may be helpful to you. We offer a free 15 minute phone consultation to answer questions and make sure our practice is the right fit for you. Click here to schedule!

Look for more to come on hypermobility syndromes and how to know if you have it!