Ehlers-Danlos Syndrome. Ehlers-Danlos Syndromes A group of separate conditions You cannot pass on...

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 1/1000 - 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