Ehlers-Danlos Syndrome. Ehlers-Danlos Syndromes A group of separate conditions You cannot pass on...
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Transcript of Ehlers-Danlos Syndrome. Ehlers-Danlos Syndromes A group of separate conditions You cannot pass on...
![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.](https://reader036.fdocuments.us/reader036/viewer/2022062519/5697c0281a28abf838cd6b37/html5/thumbnails/1.jpg)
Ehlers-Danlos Syndrome
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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.](https://reader036.fdocuments.us/reader036/viewer/2022062519/5697c0281a28abf838cd6b37/html5/thumbnails/3.jpg)
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
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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
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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
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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
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Brighton Criteria
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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
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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.
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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
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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