My last physio patient has just left the clinic and their knee arthritis flare up has settled down well with some advice and exercises. Next in I have a referral for Laura (not her real name), a 26-year-old retail assistant who is off sick. She has a history of long-standing anterior knee pain and previous patella dislocations. I note her medical history also states previous physio attendances for back pain, wrist and hand pain, neck pain and ankle sprains. She has chronic fatigue, multiple allergies, genitourinary issues, anxiety and problems with palpitations and dizziness. She’s had an inflammatory condition excluded and it doesn’t really fit that picture. Her GP is querying fibromyalgia. I’m surprised by her having problems with multiple bodily systems at such a young age and wonder if they could be linked? I’m a little daunted by her complexity and just know my 20-minute appointment will not be enough!
What is hypermobility?
Simply put this is excessive joint movement. Think “double jointed”. This can vary from a single joint to a pair / group, to a more generalised hypermobility affecting the spine and multiple joints. For some people this may never lead to pain and in fact be advantageous (You’ve probably heard of Olympic swimmer Michael Phelps). This is termed asymptomatic joint hypermobility. However, for some hypermobility can contribute to musculoskeletal (MSK) pain or be part of a much more complex condition affecting multiple bodily systems. The Beighton score is a quick and easy tool commonly used to diagnose generalised joint hypermobility in children and adults. It gives a score out of 9, whereby positive is > 5 for adults up to age 50.
Hypermobility Spectrum Disorder
This is the recognised term for somebody with a kind of joint hypermobility with one or more associated MSK problem. It may present just in the peripheral joints, localised to one joint or a group, historical (once hypermobile but no longer) or generalised / widespread hypermobility. Hypermobility Spectrum Disorders (HSDs) can be visualised on a continuum from asymptomatic joint hypermobility at one end to Hypermobile Ehlers Danlos Syndrome (hEDS) at the other.
The Ehlers Danlos Syndromes
These are a group of 13 conditions mainly characterised by joint hypermobility, skin hyperextensibility and tissue fragility. They are inherited and their genetic causes generally involve the connective tissue collagen. Overall, they range from rare to extremely rare. Twelve have an identified genetic marker but the most common – hypermobile Ehlers Danlos Syndrome – is yet to be identified. For now, there is a helpful diagnostic criteria checklist. However, someone with HSD may well have signs and symptoms equally as debilitating as hEDS but not quite meet the specific hEDS diagnostic criteria.
This article will focus on HSD and hEDS as these are by far the most common. Vascular EDS is rarer and should also be suspected in anyone with peripheral joint hypermobility, thin translucent skin and a tendency to bruise catastrophically. Its gene defect affects type 3 collagen which is found in large hollow organs. Spontaneous pneumothorax, arterial, sigmoid colon, or uterus rupture can occur which can have fatal consequences. Early identification is key to managing this condition as it is often sadly diagnosed following a catastrophic event. Both hEDS and vEDS have an autosomal dominant inheritance pattern. If one parent had the condition each child had a 50:50 change of inheritance.
Associated Musculoskeletal Problems
Joint hypermobility can affect people in a range of ways. Common is persistent musculoskeletal pain and it is believed this may be due multiple factors including excessive joint movement causing repetitive microtrauma to soft tissues. More obvious trauma may also be evident such as joint subluxations and frank dislocations. Reduced proprioception (your joint position sense) and muscle weakness is common. A recent systematic review suggested exercises to address these deficits usually yield good results.
Commonly associated with HSD and hEDS are conditions extending past the musculoskeletal system. Someone may have none, some or all of these associated conditions. Often these can be more debilitating than the MSK symptoms themselves.
Cardiac Dysautonomia
The autonomic nervous system regulates the bodies automatic processes such as heart rate, blood pressure and digestion. Dysfunction of these is commonly seen in HSD and hEDS. The main cardiac presentations are orthostatic hypotension (rapid drop in BP when standing) and postural orthostatic tachycardia syndrome (POTS). POTS is usually characterised by a sustained increase in BP of 30 bpm soon after standing without significant drop in BP. Symptoms often include fatigue, light headedness, dizziness, and palpitations when standing and intolerance to exercise. There are various suggested underlying causes for these and their link to hypermobility.
Understandably POTS can cause somebody significant anxiety as well as functional impairment so adequate support and management is key. First line management recommendations include increased salt and fluid intake, carefully building exercise tolerance, compression garments and avoiding triggers for vasodilation such as hot environments, sudden changes in posture and large carbohydrate meals (insulin is a vasodilator).
Genitourinary and gastrointestinal disorders
Genitourinary (GU) and gastrointestinal (GI) disorders are also associated with HSD and EDS. The GU system and pelvis contain many collagen rich tissues and a broad range of issues have been reported. GU problems can include incontinence, pelvic organ prolapse and pain. Incidences of menstrual disorders, pregnancy complications and pelvic girdle pain are also increased.
GI disorders commonly include abdominal pain and bloating. Bowel transit problems from constipation to IBS are also common and may relate to dysautonomia. Structural problems may include hernias and rectal prolapse.
For GU or GI problems early referral to a specialist is key to managing symptoms and reducing associated anxiety and impact on daily life.
Mental health associations
A strong association has been observed between HSD/hEDS and psychiatric disorders such as anxiety, depression and eating disorders. Also, there is growing recognition of links to neurodevelopmental disorders. A Swedish study found EDS had an increased relative risk of 5.6 for attention deficit hyperactivity disorder and 7.4 for autistic spectrum disorder. The cause for these associations is unknown.
Mast Cell Disorders
Mast cells are involved with the body’s immune system response. They are found throughout the bodies tissues and when they become “activated” by a stimulus they help initiate an inflammatory response. They are best known for their role in allergic reactions. When someone has increased activation of mast cells it is known as mast cell activation disorder (MCAS) and this is common in HSD and hEDS. Symptoms can vary hugely in severity from mild reactions to anaphylaxis. Common symptoms are itching, swelling, redness, abdominal pain and diarrhoea. Triggers widely vary but can commonly include alcohol, foods, medications, heat (environmental or increased body temperature), infection, surgery, insect stings, chemicals, and stress. It is recommended people with MCAS work closely with a treating doctor to firstly identify and avoid triggers. Allergies to various medications may then mean various low dose medications are trialled one at a time and gradually increased. MCAS is presently incurable.
It is vital that we, health professionals and employers involved in care communicate well with each other, creating a patient centred network
Fatigue is the most disabling symptom according to EDS patients and responds less well to treatment than other outcomes such as pain. A survey found its prevalence in EDS of over 75%. Medical assessment and relevant investigations to exclude common causes for fatigue is important. It is proposed there is an overlap between EDS and chronic fatigue syndrome (CFS) and that indeed in some CFS sufferers hypermobility signs may go unrecognised. Fatigue in EDS may also be linked to chronic pain, poor sleep and nutrition, deconditioning, dysautonomia, GI and GU disorders, psychological issues and mast cell disorders.
In closing
The challenges facing people with hypermobility spectrum disorders and Ehlers Danlos syndrome can be considerable and wide ranging. They may have multiple diagnoses and be seeing multiple health professionals, often travelling far and wide to access specialist services. Finding a health professional with a good understanding of the conditions can be a struggle. It is vital that we, the health professionals, and employers involved in care communicate well with each other, creating a patient centred network.
After all, a well-oiled team of clued-up health professionals is really required to give the best possible support for the next Laura that comes into your clinic.
If you are interested in learning more about Hypermobility and EDS the EDS Society offer patient information and further training for health professionals. I would also highly recommend this recently released masterclass article.
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