1. Three complex overlapping conditions
Hypermobile Ehlers-Danlos
Autonomic Dysfunction
Mast Cell Activation
Poorly understood. I am presenting observed features correlated with these conditions, though we don’t truly understand why yet. Lack of research.
Three complex overlapping conditions

2. hypermobileEDS/HSD
Hereditary Connective Tissue Disorder affecting collagen
Characterised by joint laxity
Autosomal Dominant inheritance (variable symptoms) No gene identified No test
Criteria-based diagnosis for hEDS, remainder Hypermobility Spectrum Disorder
Differential diagnosis
Other rarer EDS subtypes
Other rare connective tissue disorders such as Marfan’s
Autoimmune rheumatological conditions
Managed with physiotherapy and by symptom

3. Features associated with hEDS/HSD Numerous & Vague
Focal or generalised joint pains or fibromyalgia, including joint dislocations, ‘Growing pains’, Complex Regional Pain Syndrome
Gastrointestinal disorders like IBS, reflux, disordered gut motility
Fatigue, muscle spasms, muscle weakness, restless legs, migraines
Disorders of pelvic floor/bladder/menstruation
Poor sleep, anxiety, symptoms of vitamin & mineral deficiencies
Fragile/stretchy skin, hernias, easy bruising, poor wound healing
Flat feet, varicose veins, piezogenic papules, scoliosis

4. Mast Cell Activation Syndrome
Hypersensitive Mast Cells
“Master regulators" of the immune system
De-granulate releasing multiple cytokines when triggered
Inflammatory & allergic symptoms
Diagnosis
Symptoms of MCA
(Mast cell mediators elevated), biopsies?
Improve with mast cell mediating medications
1-17% prevalence (NIH study – 5% Familial Tryptasaemia)
Stepwise worsening with ‘stressors’

5. Features associated with MCAS Numerous & VaguE
Gastrointestinal
IBS, leaky gut, malabsorption, nausea, vomiting, disordered gut motility
Swallowing problems, throat tightness, globus
Cardiovascular
Light-headedness, pre-syncope, syncope, labile BP
Tachycardia or POTS
Dermatological/Haematological
Flushing, itch, urticaria
Easy bruising/clotting disorders
Psychological & Neurological
Brain fog, short term memory dysfunction
Headaches, migraines, vertigo, tics, tremors
Autistic Spectrum Disorders(?) ADHD(?)
Respiratory
Congestion, coughing
Asthma (may be poorly controlled)
Vision/Eyes
Ocular discomfort, allergic conjunctivitis
Constitutional
Fatigue, fibromyalgia-type pain, Complex Regional Pain Syndrome(?)
Weight loss/gain
Multiple food, drug, and chemical intolerances (especially fragrances)
Autoimmune conditions
Musculoskeletal
Osteoporosis/osteopenia or osteosclerosis
ANAPHYLAXIS
Features associated with MCAS Numerous & VaguE

6. POTS & Autonomic Dysfunction
Orthostatic Intolerance with sustained rise in pulse on standing
No prevalence data – ‘frequently seen’ in specialist clinics
Can be highly debilitating
Diagnosis by tilt table or active stand test
Triggers – pubertal growth spurt, viral illness
Autonomic dysfunction can be secondary to other conditions
Effective treatments are available
Fluids, salt, exercise and sometimes medication
POTS & Autonomic Dysfunction

7. Features associated with POTS Numerous & Vague
Palpitations, pre-syncope
Brain-fog – poor memory, poor concentration, word-finding difficulties
Fatigue & exercise intolerance
Tremulousness
Headaches/migraines
Lack of vasoconstriction
Temperature dysregulation
Poor sleep
Anxiety

8. PUTTING IT ALL TOGETHER
Fatigue
Low BP and PoTS
IBS-like symptoms, indigestion
Poor healing
Stretchy skin Bruising
Allergies
Autoimmunity
Hypermobile joints,
Dislocations Sprains
Anxiety
Poor sleep
Family history
Chronic pain
‘Medically unexplained symptoms’
Weak pelvic floor
Migraine