What is hEDS?

As a note I’m not going to be touching on the Hypermobility Spectrum Disorders today but I will do a separate post about hEDS vs HSD.

First things first more general information: What does EDS stand for? Ehlers Danlos Syndrome(s)! Ehlers Danlos Syndromes are a group of genetic connective tissue disorders. There are 13 different subtypes varied in how they affect the body and in their genetic causes. They are generally characterised by joint hypermobility, skin hyper-extensibility and tissue fragility. Each person is assessed through clinical assessments and possible genetic testing to identify if they are suffering from EDS and consequently what subtype. It is also possible for someone to experience more than subtype.

HEDS stands for Hypermobile Ehlers Danlos Syndrome the most common subtype and the one I suffer from. Firstly I want to explain that being hypermobile doesn’t automatically equal hEDS! While the ehlers danlos syndromes are considered rare diseases it is unlike hEDS is actually rare, but that’s a discussion for another day. HEDS is also the only sutype of which the genetic marker is not known so diagnosis is made through rigorous criteria and ruling out other subtypes. I am going to go into the specific criteria for hEDS and my diagnosis journey in a separate post. (There is currently a huge study going on in order to identify the marker which is very exciting!)

HEDS is a multisystem illness which can cause a huge range of symptoms while also having many comorbidities. As with all illnesses it ranges from person to person and different people will have different comorbidities, if any. I am going to share a few but not an exhaustive list, and will state which ones I personally experience for anyone who wants to learn more about my personal experience with hEDS.

Firstly, the most common symptoms, which I stated before, joint hypermobility (an increased range of joint movement), stretchy and fragile skin that breaks or bruises easily. However, I feel it’s important to note that skin involvement can be less so in hEDS compared to other subtypes. For me personally, while my skin is stretchy it isn’t by very much and is difficult to see by non-medical professionals. I actually believed I couldn’t have hEDS as I didn’t think my skin was at all stretchy until I was assessed and shown by Professor Rodney Grahame.

Chronic pain is another very common and often debilitating symptom of hEDS. This can be caused by muscle weakness, improper movement in the neck and back, and unstable loose joints. Acute pain is also common as the joints being unstable and loose often cause dislocations and subluxations (partial dislocations). It is important to note that not everyone with hEDS does experience this but lots of us do have daily dislocations/subluxations. I myself experience small joint dislocations daily (e.g. fingers and toes) and large joint dislocations multiple times a week (e.g. ankles, knees, hips and shoulders). I also experience spinal vertebra and rib subluxations which aren’t common in the general publication at all!

Chronic fatigue is another common symptom which can be exhausting (pun not intended lol). It can also cause cognitive issues such as brain fog.

From the skin involvement in hEDS it can cause poor healing from injuries and surgeries (anyone remember my nightmare healing after my appendicitis?) and easy bruising from relatively small injuries. It is also quite common for individuals to have lots of stretch marks not related to weight gain or body changes.

Sleep disturbances are also common with hEDS most often caused by chronic pain and coined by the chronic illness community as ‘painsomnia’!

Now onto some common comorbidities (keep reading if you want to know a brief summary about them):

• Chronic migraines (I have this)
• GI issues (I have this)
• Dysautonomia (I have this)
• Orthostatic hypotension (I have this)
• MCAS (I am being tested for this)
• TMD/TMJ (I have this)
• Bladder issues (I have this)
• Scoliosis (I have this)
• Depression (I have this)
• Anxiety (I have this)

Generally even if someone with hEDS doesn’t meet the criteria for these they still may experience symptoms related to them. The conditions I have will have their own dedicated blog post in time with a more thorough explanation, symptoms and how they affect me.

Let’s start with what’s known as the EDS trifecta – hEDS, PoTS and MCAS. PoTS stands for postural orthostatic tachycardia syndrome. PoTS is a type of dysautonomia and the most common (but not only) type that goes hand-in-hand with hEDS. (Dysautonomic conditions are conditions in which the autonomic nervous system doesn’t work properly). PoTS is an abnormal increase in heart rate that occurs after changing posture (laying to sitting, sitting to standing etc). Common symptoms are dizziness and fainting. MCAS (mast cell activation syndrome) is an immunological condition in which mast cells act inappropriately and excessively. This causes allergy symptoms such as hives, swelling, low blood pressure, difficulty breathing and diarrhoea.

Orthostatic hypotension is also very common and often seen alongside PoTS. Orthostatic hypotension is a sudden drop in blood pressure when changing posture.

Chronic migraines is defined as 15 or more headache days per month. While not as common as other comorbidities a lot of hEDS sufferers experience this. Migraines are usually a moderate to severe headache felt as a throbbing pain on side of the head but with a host of other symptoms. These can be things like aura, sensitivity to light, nausea and vomiting.

Now onto a very big section – GI issues. As with everything this is not an exhaustive list of what people with hEDS might experience. Firstly IBS (irritable bowel syndrome) however this diagnosis is commonly given when the exact condition is unknown. Gastroparesis is also common, and one of the conditions I struggle most with. Gastroparesis is a partially or fully paralysed stomach meaning food doesn’t empty properly. This leads to chronic vomiting, severe pain and often malnutrition. Intestinal dysmotility is another condition where food cannot pass along properly. This leads of chronic constipation, intestinal pain and spasms and sometimes intestinal blockages. And lastly I’m going to mention GERD (gastroesophageal reflux disease). GERD occurs when stomach acid flows back up the throat causing reflux. This can be painful, cause heartburn, chest pain and difficult swallowing.

TMD is temporomandibular disorder is a condition affecting the movement of the jaw. For those with hEDS this is often chronic while with the general public it will resolve on its own. Symptoms include pain are your jaw, ear and temple, a headache (or worsened migraines) and difficulty opening the mouth fully. With those with hEDS this can increase the chances of jaw dislocations.

Bladder issues are something that a lot of us struggle to talk about but do experience. Stress incontinence is probably the most common for those with hEDS. This is where urine leaks when physical movement or activity happens. General pelvic floor and bladder issues also occur along with other diagnoses.

Many with hEDS suffer with scoliosis however the severity is often quite minimal although not always. Scoliosis is an abnormal curvature of the spine. This can cause pain along with other issues.

This post is already incredibly long so I’m going to leave it there. There are links below if you want to read more, I’ll be writing more posts and I’m happy to answer any questions you may have!

Links for more information and evidence:

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

Pain Management in the Ehlers-Danlos Syndromes (for Non-experts)

What is EDS?

Hypermobile Ehlers-Danlos Syndrome: Clinical Description and Natural History (for Non-experts)