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2, 5, 7, 9 – 11, 13, 15 – 20
Table 1. Summary of key features / common comorbidities noted in hEDS System
Neurological and spine
Psychiatric
Immunological
Key features / comorbid condition
Headache / migraine Chiari malformation Basilar invagination Idiopathic intracranial hypertension Myelopathy from spinal cord-associated conditions Cervical instability( craniocervical, atlantoaxial, segmental) Cerebrospinal fluid leaks / spontaneous intracranial hypotension Scoliosis Spondylolisthesis Degenerative disc disease Tethered cord / occult tethered cord Myalgic encephalomyelitis / chronic fatigue syndrome.
Mood disorder Anxiety disorder( largely physiological; eg, associated with POTS) Neurodevelopmental disorders( ADHD, autism) Insomnia Clinician associated traumatisation( trauma from medical misdiagnosis / stigmatisation / invalidation).
Mast cell activation syndrome Asthma Eczema Hay fever Urticaria / rashes Coeliac disease Food intolerances / allergies Drug allergies.
Avoidance of long-term opioids is recommended. Note that for those with hEDS, both acute and chronic pain may require simultaneous management. It is also important to note that treating comorbid postural orthostatic tachycardia syndrome( POTS) and MCAS, as well as appropriate physical therapies and other multidisciplinary pain management, will usually significantly reduce pain and the need for pharmacological management.
Management of MCAS and POTS may include identifying and avoiding personal triggers, improving stress management and nervous system regulation, optimising diet, nutrition and gut microbiome, correcting micronutrient deficiencies, and pharmacotherapy.
First-line pharmacotherapy for MCAS includes starting H1 and H2 antihistamines, such as fexofenadine 180mg twice daily and PRN, and famotidine 40mg twice daily. Note that higher doses are required for MCAS management than for other conditions, and often individuals will find that one particular H1 antihistamine works better than others, so a trial of multiple agents is recommended to find the most appropriate for the individual.
There are many other mast cell targeted medications, and often multiple will be needed. These may include montelukast, low-dose naltrexone and / or compounded mast cell stabilisers( ketotifen, sodium cromolyn).
26, 27
Pharmacological management of POTS can include medications that address tachycardia, such as ivabradine or propranolol; midodrine, which improves peripheral vasoconstriction; and / or fludrocortisone, which targets fluid volume retention. Note that treating MCAS adequately will often reduce symptoms of POTS and the need for POTS-directed pharmacotherapy. 26-28
Chronic disease management, and mental health treatment plans( if relevant), should form part of the routine care co-ordination performed by the GP for their patients with hEDS, along with patient education and connection to formal patient advocacy groups( see Online resources).
Assistance with access to NDIS and disability support services, where applicable, can be a
Online resources
Hypermobile Ehlers-Danlos syndrome( hEDS) is the most common subtype of EDS.
• Connective Tissue Disorders Network Australia( CTDNA) ctdna. org. au
• 2017 Diagnostic Criteria for hEDS bit. ly / 441s1Pv
• The Spider Questionnaire thespidertool. com
• The Ehlers-Danlos Society ehlers-danlos. com
• Bristol Impact of Hypermobility( BIOH) Questionnaire bit. ly / 42CvvWgf
• EDS Support UK- GP Toolkit gptoolkit. ehlers-danlos. org
positive outcome of a strong therapeutic GP relationship for those with hEDS.
Recent focused evidence-based clinical care guidelines have been published for the management of childbearing with hEDS, and for the
29, 30 diagnosis of paediatric joint hypermobility. These should be considered and implemented as appropriate for these specific subgroups of hEDS patients.
Reduced symptom burden and effective management of comorbid conditions such as POTS and MCAS can lead to improved outcomes for any non-pharmacological interventions used such as physiotherapy. This demonstrates the importance of using prescribed pharmacologicals and non-pharmacological strategies alongside each other. 17
Could it be hEDS?
The phrase‘ if you can’ t connect the issues, think connective tissues’ is an unattributed, commonly used phrase within the world of expert hEDS clinicians and researchers globally. It neatly emphasises not only the spectrum of potential symptoms for those with hEDS, but also the host of comorbid conditions that can, and likely will be, present in these patients.
Autonomic / cardiovascular
Gastrointestinal
Urogynaecological
Musculoskeletal
Autonomic nervous system dysfunction( dysautonomia):
• postural orthostatic tachycardia syndrome
• inappropriate sinus tachycardia
• orthostatic intolerance
• orthostatic hypotension
• vasovagal syncope.
Vascular compression syndromes:
• internal jugular vein compression
• thoracic outlet syndrome
• median arcuate ligament syndrome
• superior mesenteric artery syndrome
• nutcracker syndrome
• May-Thurner syndrome
• pelvic congestion syndrome.
Gastro-oesophageal reflux disease Eosinophilic oesophagitis GI dysmotility( gastroparesis, oesophageal, colonic) Chronic constipation and / or vomiting Irritable bowel syndrome Visceroptosis Abdominal hernias Rectal prolapse.
Under / overactive bladder Urinary frequency, urgency, incontinence, retention, UTIs Pelvic floor dysfunction Pelvic organ prolapse Dyspareunia Heavy menstrual bleeding Dysmenorrhoea
Joint hypermobility Joint pain, dislocation, subluxation, instability / altered mechanics Osteoarthritis TMJ dysfunction.
Dermatological Potential skin characteristics include:
• soft / silky / velvety to touch
• mild transparency( visibility of veins)
• mild skin fragility prone to bruising / injury
• slow wound healing
• atrophic scars( mildly stretched, sunken)
• striae atrophicae( stretch marks) Fascial fragility may cause spontaneous CSF leak, pelvic organ prolapse and hernias.
Pain Acute and / or chronic nociceptive, neuropathic and nociplastic pain.
Many potential sources, for example:
• acute or chronic nociceptive pain from joint injury, dislocation / subluxation, degenerative disease, muscle spasm
• neuropathic pain from nerve injury or entrapment and neurovascular compression syndromes
• nociplastic pain / central sensitisation with conditions such as fibromyalgia and complex regional pain syndrome.
A recent survey found the median age at initial symptom onset in those with hEDS is 10 years. Yet on average, it took another 10 years for individuals to receive a diagnosis of hEDS. This extended time to diagnosis has been termed‘ the diagnostic odyssey’. 31
An Australian survey of 152 women with hEDS noted a delay of 15 years from initial presentation to diagnosis. 10 This further highlights the importance and need for medical education on hEDS and HCTDs more broadly in the Australian context
10, 15, 31
.
There is great value in diagnosing hEDS for both the patient and the diagnosing clinician. It is a complex, chronic and debilitating syndrome, and diagnosis can lead to care that is more coordinated and comprehensive, allowing better health outcomes and increased accessibility to assistive and supportive services. Reducing the‘ odyssey’ means the potential for much greater and active participation in all domains of life for people living with the condition.
References on request from kate. kelso @ adg. com. au