Transcript Helpline advice on EDS

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
Beighton
score
Give yourself 1 point
for each of the manoeuvres you can do,
up to a maximum
t
of 9 points
Can you bend
your knee backwards?
g
Registered Charity 1014641
Can you bend your thumb back
onto the front of your forearm?
Can you put your
hands fla
o on the
flor wi th y our
knees
straight?
Can you bend your
elbow backwards?
Can you bend your little finer
up at 90º (right angles) to
the back of your hand?
www.ehlers-danlos.org
T: 020 8736 5604
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 multisystemic 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