ehlers-danlos syndrome. ehlers-danlos syndromes a group of separate conditions you cannot pass on...

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Ehlers-Danlos Syndrome

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Page 1: 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

Ehlers-Danlos Syndrome

Page 2: 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

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

Page 3: 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

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

Page 4: 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

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

Page 5: 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

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

Page 6: 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

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

Page 7: 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
Page 8: 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

Brighton Criteria

Page 9: 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

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

Page 10: 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

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.

Page 11: 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

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

Page 12: 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

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