The A-Z of Ehlers-Danlos Syndrome (EDS)

A is for adrenaline.  

Due to adrenaline highs and lows people with EDS may have trouble falling asleep or may feel jittery and anxious.  This over-response to physical and emotional stresses often leads to fluctuations in heart rate and blood pressure, as well as digestive and respiratory symptoms.  The highs of adrenaline can allow people with EDS ‘push through’ when they are tired without realising that they are using up there reserves of energy, this boom bust cycle can then increase fatigue over time.

I am definitely a classic boom buster.  I constantly tap into my reserves but sooner or later I have nothing left.  Many times I have been left virtually unable to function at all,  the key to living well with hEDS for me has been to recognise when this is happening and not to over do things.

B is for bowels and bladder.

People with Ehlers-Danlos syndrome often have problems with the function of the bowel or bladder.

There can be a malfunction of the coordination of involuntary muscle movements which push food along the digestive tract, leading to issues such as acid reflux, slow motility and irritable bowel syndrome.

There may also be an increased risk of various bladder disorders in EDS. This could be due to differences in the anatomy of the urinary tract and pelvis, to dysfunction of the involuntary part of the nervous system which also controls the bladder, a consequence of inflammation, or of bowel problems which can affect bladder function.

I now eat a gluten-free diet and small regular meals throughout the day to manage my bowel symptoms, as well as daily medication to give nature a helping hand.  My kids are the same, in fact my daughter doesn’t like the taste of hot chocolate without her Movicol in it!

C is for connective tissue.  

The Ehlers-Danlos syndrome’s are a group of disorders that affect connective tissues supporting the in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on.

Connective tissue is what the body uses to provide strength and elasticity; normal connective tissue holds strong proteins that allow tissue to be stretched but not beyond its limit, and then safely return that tissue to normal.

The connective tissue a person with EDS is built with is not structured the way it should be. With a badly constructed or processed connective tissue, some or all of the tissue in the EDS-affected body can be pulled beyond normal limits which causes damage.

With problems such as dislocations, poor proprioception, bowel and bladder problems to difficulties with heart rate and blood pressure you can see how widespread issues can be.  They can also vary greatly in severity from person to person.

D is for dislocations.  

Dislocations and partial dislocations (subluxations) are a key feature of EDS because the ligaments and tendons stretchier (more lax) and less stable.  A dislocation is a displacement of the bone from its natural position in the joint and a subluxation can be thought of as a partial dislocation.  Both are extremely painful.  Altered muscle tone, impaired proprioception, repeated over stretching, the shape of your joint surfaces and trauma all have an impact on dislocations.

I had my first full dislocation at age 13 when my knee dislocated as I swung my leg over a low wall.  As I went through me teens and early 20’s dislocations became so common place they would happen rolling over in bed, or twisting to reach the loo roll.  As I have got older full dislocations happen less frequently than they used to but now when they happen they cause much more damage and pain.  Subluxations are a daily, sometimes hourly, occurrence.  Doing up my seatbelt, holding a pen, even sneezing have caused partial dislocations.

E is for elastic, velvety skin.  

The different structure of the skin in a person with Ehlers-Danlos syndromes makes it more fragile than normal skin. Stretchiness, abnormal scarring, stretch marks at a young age, easy bruising, slow wound healing and development of development of molluscoid pseudo tumours (fleshy lesions associated with scars over pressure areas) are all signs of EDS, but the presence and severity of these issues will depend on the type of EDS.

F is for fatigue. 

There is overlap in the symptoms of hypermobile Ehlers-Danlos syndrome and myalgic encephalomyelitis (ME) /chronic fatigue syndrome (CFS), though they are not the same condition. Sleep disorders, chronic pain, muscle deconditioning and nutritional deficiencies can all contribute to fatigue in hEDS. Fatigue in EDS can be described in many ways where you wake up tired even though you are getting a good nights sleep, where your muscles don’t have the energy to do a simple job, or when you can’t think straight and your brain is ‘foggy’.

Fatigue has a massive impact on our family.  One of my children diagnosed with both hEDS and ME/ CFS and is unable to attend school at all and another EDSer is attends part-time at school to manage pain and fatigue.

G is for genetics. 

Ehlers-Danlos syndrome’s are passed on in an autosomal dominant or recessive way depending on the different EDS subtype.  In autosomal dominant EDS a parent with the condition has a 50% chance of having a child with the condition. This is true for each pregnancy.

In autosomal recessive EDS subtypes there are  several ways that it can be passed down through families. Two copies of an abnormal gene must be present in order for the disease or trait to develop.  One from each parent. There will be a A 25% chance that the child is born with two normal genes (normal), a 50% chance that the child is born with one normal and one abnormal gene (carrier, without disease and a 25% chance that the child is born with two abnormal genes (at risk for the disease).

The table below shows the different EDS subtypes and the inheritance pattern; AD – autosomal dominant, AR – autosomal recessive.  In all but one type of EDS (hypermobile type) the gene has been identified.

In our family we have hEDS, I had a 50% chance of passing it on to my children.  Two have been formally diagnosed, the other is hypermobile and would fit the criteria for a hypermobility Spectrum Disorder rather than hEDS.

H is for handle with care. 

People with EDS have skin that is more fragile, their skin bruises easily and can scar abnormally.  EDS joints are at risk of dislocation with minimal trauma and sprains and other injuries are common.  Pain is a defining feature of EDS, something as simple as a hug can hurt.  People with the more serious vascular Ehlers-Danlos syndrome (vEDS) are at risk of organ rupture and must avoid high risk activities and contact sports.

I is for invisible illness. 

Ehlers-Danlos syndrome is considered an invisible illness.  Unless a person with EDS is using a walking stick, a wheelchair or has a joint braced they will look more or less the same as everyone else.  What you can’t see is what is going on inside their bodies; pain, fatigue, blood pressure irregularities, dizziness, etc.

J is for joint hypermobility. 

Joint hypermobility is a key symptom of EDS.  With loose/unstable joints which are prone to frequent dislocations and/or subluxations, joint pain, hyperextensible joints (that move beyond the joint’s normal range) and early onset of osteoarthritis.

I am 41 and have lost count of the number of joins where osteoarthritis is present.  It is more prevalent in the joints that have had recurrent dislocations over the years, or areas of my body that are particularly unstable.  If you are in the school of people that think it is OK to do those party tricks, showing off your hypermobile joints or popping things in and out… DON’T.  It might not hurt now but it hurts like hell as you get older.

K is for Kyphoscoliosis. 

Kyphoscoliosis is an abnormal curvature of the spine on two different planes: the coronal plane, which divides the stomach and back; and the sagittal plane, which divides the body into its left and right sides. This curvature is effectively a combination of kyphosis (forward spinal curve) and scoliosis (sideways spinal curve).  Kyphoscolosis is a key feature of one of the rarer Ehlers-Danlos syndromes, Kyphoscolotic EDS (kEDS).

L is for local anaesthetics. 

Many people with hEDS are resistant to local anaesthetics such as dental anaesthetic for a filling.  The reason for this is unknown and more research is needed.

I now warn my dentist about this before he starts any work on my teeth, I often need more anaesthesia in multiple places to stop me punching him when he starts to drill!

M is for mast cells. 

Immunological problems such as mast cell activation syndrome have been linked to hEDS.  A type of immune cell (mast cells) release an excess of inflammatory chemicals such as histamine, causing allergy-like symptoms throughout the body.

This can range from rashes to breathing problems, bowel and bladder problems, fatigue, skin sensitivities and uncontrollable itches.

N is for narrow palate. 

High, narrow palate and dental crowding are nonspecific features of most heritable disorders of connective tissue. This results in teeth being pulled or braces being fitted for many EDSers.

O is for orthostatic intolerance (POTS). 

The term orthostatic intolerance (OI) refers to a group of clinical conditions in which symptoms worsen with assuming and maintaining an upright posture and improve (but are not necessarily abolished) by recumbency.  Symptoms may include, light-headedness, syncope, diminished concentration, headache, blurred vision, fatigue, exercise intolerance,  chest discomfort, palpitations, tremulousness, anxiety and nausea.  

Postural Orthostatic Tachycardia Syndrome is a form of OI that is classified by an increase of 30 BPM on standing (40 BMP in children) and is common with hypermobile EDS.  Symptoms include fast heart rate coupled with low blood pressure, digestive and bladder problems, and temperature and sweating dysregulation.

You can manage the condition by drinking more fluids, improving your cardiovascular fitness, and if your daily function is severely impaired, taking medication.

POTS is definitely a feature in our house.  From my son who is severely affected to my daughter whose symptoms seem to be intermittent and me somewhere in the middle.

P is for pain. 

Pain is a defining characteristic of EDS.  There are different types of pain related to Ehlers-Danlos syndrome; it may be acute, where it starts suddenly and is short-term this is frequently caused by damage to tissue such as bone, muscle, or organs.  Perhaps a sprain, dislocation or subluxation.

It is also chronic and is felt over a longer period of time.  Chronic pain lasts longer than acute pain and is generally somewhat resistant to medical treatment. It is usually associated with a long-term illness, such as osteoarthritis or  Ehlers-Danlos Syndrome.  Chronic pain can be the result of damaged tissue, but very often is attributable to nerve damage.

UGGGH Pain… Is quite frankly a pain.  We can wake up hurting and just don’t know why, can have all over aches that make doing the simplest of things each day hard work or just hurt to touch.

Any questions? Please check out the Ehlers-Danlos Society,  Ehlers-Danlos Support UK and the Hypermobility Syndromes Association for more information.

R is for relaxin. 

Some women notice that the symptoms such as pain, injuries, clumsiness and dislocations may increase during pregnancy or at different times of their menstrual cycle.   Midway through the cycle, the level of the female sex hormone oestrogen, which gives strength to muscles and ligaments, drops dramatically, resulting in sudden weakness.

At the end of the cycle levels of another hormone, relaxin, rise.  This is to allow the cervix to open so that menstruation can occur, but it also means the ligaments in general are softened.  Some people have found that manipulating hormones can reduce symptoms but I am yet to find a doctor to prescribe because I have migraines!!

I can tell where I am in my menstrual cycle by the amount of daily dislocations and subluxatioins that I have and how wobbly I feel.  It’s like I am held together with chewing gum rather than rubber bands.

S is for slipping rib syndrome. 

Slipping rib syndrome is a phenomenon that happens in EDS.  Every now and then a rib just slips out of place, it can be triggered by something as simple as coughing, sneezing or turning to reach something.  It is extremely painful.

T is for TMJ. 

Among the areas critically affected by hEDS is temporomandibular joint (TMJ). When this joint is loose it can have significant impact on the craniofacial structure, especially the head and neck and can cause dislocations, pain and headaches.

Most mornings this joint is partially dislocated and can take an hour or so for me to be able to fully open my mouth.  Some nights when the joint is ‘out’ the pain wakes me and I have to relocate it and try to settle on the other side.  Sometimes I can’t actually get it to relocate and have to walk around with my mouth open or manipulate it back into position.  It is very painful.

U is for unexplained stretch marks. 

In the Ehlers-Danlos syndromes stretch marks may appear from an early age at multiple atypical sites such as the elbows, chest, under the arms, and on the inner thigh.

V is for vascular EDS. 

Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder. It is usually caused by a gene mutation in the COL3A1 gene affecting a major protein. Common symptoms include thin, translucent skin, easy bruising, characteristic facial appearance, and fragile arteries, muscles and internal organs.  Managing and monitoring the condition improves outlook and requires specialists from different disciplines.

W is for widespread symptoms.

The Ehlers-Danlos syndrome’s are a group of inherited conditions that affects the connective tissues in the body. As connective tissue is responsible for supporting and structuring the skin, blood vessels, bones, and organs and is found all over the body symptoms of EDS are often widespread and multi systemic.

X is for x rays.

For a patient presenting with pain in their joints an x ray is often used to try to identify the cause of pain and discomfort, however, unless a joint is displaced (subluxated or dislocated) or significantly affected with osteoarthritis then an x ray is unlikely to show the cause of any symptoms in EDS.

Y is for years to diagnosis.  

Often it takes a patient years (even decades) to receive a diagnosis of Ehlers-Danlos syndrome.  This is often due to the multi-systemic nature of the condition; patients can be seen by many different doctors in different hospital departments with seemingly unrelated conditions.  Often the reality is that no one has put the pieces together.  Patients can be left feeling that it is all in their head.  Awareness is extremely important amongst medical professionals.

For me it took 26 years to get a diagnosis of hEDS.  26 years after I was first hospitalised as a kid unable to walk.  26 years of being seen by neurologists, orthopaedic surgeons, paediatricians, gastroenterologists, rheumatologists and physiotherapists. 26 years of being made to feel like I was going mad.

Z is for zebra.  

The zebra is our mascot.  In medicine, the term zebra is used in reference to a rare disease or condition.  Doctors are taught to assume that the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses.  Doctors learn to expect common conditions and are taught the phrase,  “When you hear hoof-beats, think horses, not zebras”.  But many medical professionals seem to forget that “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for sufferers of rare conditions.  

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