Ehlers-Danlos Syndrome

Ehlers-Danlos Syndromes  A group of separate conditions  You cannot pass on a type you don’t have  Currently 7 types recognised  Some types due to abnormal collagen, but not all  Symptoms very variable even within the same type or same family

Hypermobility EDS (III)  Most common type of EDS  Prevalence not known; estimate between 1/ /30 > NOT RARE!  Hypermobility, joint pain, subluxations/ dislocations, minor skin symptoms  Also linked with PoTS, gastric symptoms, and other multi-systemic problems

Classical EDS (I & II)  Second most common type, affects approx. 1/20,000  Skin hyperextensible (stretchy), ‘cigarette paper’ scarring, slow/poor healing, easy scarring, easy bruising  Hypermobility, joint pain, subluxations/dislocations  Can be diagnosed by genetic test or skin biopsy

Vascular EDS (IV)  Thought to affect around 1/250,000  Thin skin, easy bruising, poor healing, fragile blood vessels and organs, characteristic facial features  Life-limiting due to vascular aneurysm rupture or organ rupture

Rare types  Kyphoscoliotic EDS (VI) –severe progressive kyphoscoliosis from birth, hypermobility, stretchy skin, muscle hypotonia  Arthrochalasia EDS (VII A&B) –Severe hypermobility with dislocations, bilateral hip dysplasia, muscle hypotonia, dysmorphic features  Dermatosparaxis EDS (VII C) –severe skin fragility, saggy redundant skin, easy bruising, hernias, normal healing and scarring  Tenascin X deficient EDS –hyperelastic skin, easy bruising, joint hypermobility, normal scarring

Brighton Criteria

PoTS (Postural Tachycardia Syndrome)  Type of autonomic dysfunction  Common co-morbidity with EDS-HT  Fast heart rate, palpitations, temperature dysregulation, high respiration rate (breathing too fast), dizziness and fainting  First line treatment physio/behavioural/diet changes  In some cases medication may be used  Diagnosed by tilt table test/active stand test

Chiari/Cranio-Cervical Instability  New area of research in EDS; very little research so far so show how often they are related to EDS  Current evidence show it might be related to EDS-HT  Chiari Malformation – the hindbrain herniates through the bottom of the skull.  Cranio-Cervical Instability - the two first vertebrae are unstable/hypermobile against each other.

Mast Cell Activation Disorder  Mast cells (part of the immune system) are activated at a lower threshold than normal, leading to a variety of multi- systemic symptoms  A lot of the symptoms crossover with PoTS/EDS symptoms  Treatment is anti-histamines as well as identifying and avoiding triggers

Gastrointestinal issues  Most common GI issues are IBS-like symptoms (cramping, diarrhoea/vomiting, nausea, constipation, bloating, etc.)  Constipation, nausea and other symptoms can also be caused or exacerbated by many pain killers used in EDS  However, a small subset of patients with EDS have much more severe GI problems including gastroparesis and intestinal failure  Also recently linked with reactive hypoglycaemia