Joining The Dots - EDS
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1 Joining The Dots - EDS
2 Ehlers-Danlos Syndrome (EDS) named after physicians Ehlers and Danlos turn of 20th Century What is EDS? 2017 new classification -up to date encompasses 14 different individual genetic conditions affecting body s connective tissue Defects caused by genetic mutations affecting collagen production - by far commonest is hypermobility EDS aka h(eds) cf classical, vascular, kyphoscoliotic Hypermobility Type - affects 1 in 2,000 people - probably more as undiagnosed - possibly 1 in % people are hypermobile but they don t all run into problems Infection? Trauma? Physical Stress? Mental Stress? Genes load the gun: environment pulls the trigger 2
3 EDS - Typically think of stretchy skin, subluxating joints BUT also hernias, abnormal wound healing, stretch marks, easy bruising
4 Hypermobility Symptoms: Pain/stiffness joints and muscles - may be worse after physical activity Clicking joints Back/neck pain
5 NB THE BEIGHTON SCORE HAS ITS LIMITATIONS Does not take into account all joints eg shoulder, neck, hips, ankles Age of patient needs to be taken into account - we become progressively less bendy 5
6 NEW GUIDELINES MARCH 2017 PREVIOUSLY - perceived as a rather trivial condition with lax joints, pain, joint dislocation/subluxation, possibly OA later in life. NOW - considered an inherited, genetically determined multi-system disorder of connective tissue rendering body vulnerable to injury and mechanical failure
7 No other disease in the history of modern medicine has been neglected in such a way It is a topsy-turvy world where patients often know more about their condition than their doctors - Prof Rodney Grahame CBE
8 Timeline EDS: 1967 Musculo-skeletal pain/joint Instability 1970 Overlap with Skin/Marfanoid Habitus 1980 Uterine/Rectal Prolapse 1990 Anxiety/Phobias 2000 Chronic Pain Syndrome/ Dysautonomia/ GI Dysmotility 2010 Progressive Disability 2014 Mast Cell Activation/ Cranio-Cervical Instability/TetheredCord
9 New Guidelines March 2017
10 Challenges Inability to link the different symptoms Join the Dots As yet there is no biomarker for Hypermobility type No gene identified for Hypermobility Type Overlapping Conditions (PoTS, MCAS) Missed diagnosis for years in many cases - decompensation No joined up/holistic approach Who is to see and follow up these patients?
11 Extra-articular manifestations of EDS unexplained fatigue syncope cognitive fog palpitations breathlessness heart murmurs ( e.g. mitral valve prolapse) upper GI fibromyalgia anxiety migraine IBS endometriosis bladder disturbance (loss of sphincter control) bowel disturbance (intussusception)
12 Causes of Fatigue in EDS AUTONOMIC: PoTS PHYSICAL: low BP, gastro MCAS: histamine issues
13 PoTS: Postural Orthostatic Tachycardia Syndrome PoTS: blood pools, BP unable to compensate, HR goes up, check lying/standing for 10 mins pulse rate. If pulse increases by more than 30 beats per min from lying to standing = PoTS (40 beats in a child) Management of PoTS: increase salt, increase fluid intake, compression undergarments Specialists - neurologist/cardiologist - TILT Table Test, Autonomic Function Tests Midodrine, B blockers, fludrocortisone
14 Irritable Bowel Syndrome High rate of gastro-intestinal issues in hypermobility patients. Reflux -weak sphincter Gastro paresis - autonomic Food Intolerance - MCAS Bloating/pain - poor collagen in lining, Small Intestinal Bacterial Overgrowth (SIBO) Constipation - lax intestine, autonomic, analgesics Some evidence for FODMAP diet
15 MAST-CELL ACTIVATION SYNDROME
16 Mast Cell Activation Syndrome Weak collagen membrane of cell degranulates releasing histamine Can be cause of recurrent sinusitis, UTIs, Asthma, Respiratory Tract Infection Treat with Anti-histamines - H1 blockers - e.g. fexofenadine H2 Blockers - eg ranitidine Cromoglycate/leukotrienes
17 Migraine High incidence of Migraine in Hyper mobile patients - greater than would be expected in normal population. Why? Autonomic? Gastro paresis Musculo-skeletal - neck, cranium, TMJ Food/Alcohol - MCAS Cranio-cervical Instability
18 Neuro-developmental Disorders Higher incidence of ADHD, ASD and Tourette Disorder in the Hypermobility Spectrum Disorder Possible value in screening patients with neuordevelopmental disorders for HEDS Possible value in screening individuals with HEDS for neuro-developmental disorders
19 A Case-Study You may tell a tale that takes up residence in someone s soul, becomes their blood and self and purpose. That tale will move them and drive them and who knows what they might do because of it, because of your words. That is your role. That is your gift. ERIN MORGENSTERN, THE NIGHT CIRCUS
20 20
21 Main Aim of Treatment EDS Increase Function Decrease Disability Self-Management Complete Resolution unlikely
22 Pacing Barnes 2/3rds rule Traffic Lights Changing Rhythm of Life
23 Pain Management: What Osteopaths do best: Massage/Manipulation/ Mobilisation/Heat/Cold/NSAIDS Neuropathic: Amitriptyline/SNRIS/Pregabalin/Gabapentin CBT Exercise Sleep: Relaxation/Hypnotherapy Distraction
24 Physical Therapy Osteopathy Physiotherapy Hydrotherapy OT Pilates? Yoga?? Walking?
25 Psychology Anxiety and Depression are unsurprisingly very common in LTCs (Long Term Conditions) CBT Anxiety is future-based - learn to live in the present - Mindfulness Humour Writing Nature Acceptance Developing interests that you can do
26 Parasympathetics Engaging the parasympathetic nervous system to help with a wayward autonomic system. Vagal Nerve Stimulation Reflexology Hypnotherapy
27 PoTS Elevation Fluids Salt Compression
28 As Osteopaths Listen to the story - are you able to join the dots? You are front-line - you are seeing many of these patients. Many have given up on their GP! You can effect change by being aware of the multisystemic nature of EDS
29 The Future Is You! Increased awareness among Drs and other HCPs Increased awareness will help with raising money for research Earlier diagnosis - improved outcomes? Integrated care co-ordinated by a GPSI? Multi-systemic nature should lead to a more integrated approach
30 THANK YOU!
31
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