Ehlers-Danlos syndrome Flashcards
What are Ehlers-Danlos syndromes (EDS)?
Group of heritable, CTDs characterised by:
- joint hypermobility
- skin hyperextensibility
- tissue fragility
How many subtypes of EDS are there?
13
Which body systems do most types of EDS affect?
Joints
Skin
Which additional features of EDS can vary by subtype?
Mucocutaneous
Vascular
Ocular
Psychological
Systemic
What is the range of the clinical spectrum for EDS?
Mild joint hypermobility to severe morbidity and disability, with life threatening (mainly vascular) complications (esp. the vascular subtype)
What is the estimated prevalence of EDS?
1:5,000 to 1:250,000 births
Does EDS affect men or women more?
Women
F:M = 8:1
What is a common clinical feature amongst EDS patients?
Chronic widespread pain
What are the clinical features relating to the skin in EDS patients?
Varying degrees of skin elasticity and fragility
Easy bruising
Scars tending to widen
Easy splitting of skin (esp. forehead, knees and elbows)
What are the clinical features relating to the joints in EDS patients?
Laxity
Hypermobility
Pes planus
Spontaneous dislocations and subluxations - most often in fingers, elbows, shoulders and patellae
N.B., for spontaneous dislocations, reduction is usually easy and patients can do it themselves
What is pes planus?
Flat feet
Loss of the medial longitudinal arch of the foot
What are the clinical features relating to the cardiovascular system in EDS patients?
Dizziness
Palpitations
Dysautonomia
Occasional heart valve abnormalities (in the rare vascular subtypes major vascular rupture is life-threatening)
What are the clinical features relating to the GI system in EDS patients?
Unexplained abdo pain
IBS
Constipation
In some types:
- diverticulae
- constipation or rupture
- rectal prolapse
More prone to nausea and travel sickness
What are the clinical features relating to the musculoskeletal system in EDS patients?
Herniation
Hypotonia
Delayed motor development
Kyphoscoliosis
Dental abnormalities
What are the clinical features relating to the ocular system in EDS patients?
Abnormalities of the globe and cornea
What are the clinical features relating to the vestibulocochlear system in EDS patients?
Tinnitus - due to lax support to the ear ossicles
What are the clinical features relating to the urogynaecological system in EDS patients?
Uterocervical prolapse
Obstetric complication
What are the obstetric complications related to EDS?
morning sickness
early membrane rupture
precipitate labour
perineal and vaginal trauma
PROM
In the rare vascular type pregnancy can lead to uterine rupture
What are the systemic clinical features of EDS?
Tiredness
Fatiguability
Sleep disturbance
N.B., although these symptoms are not required for diagnosis they are often dominant and can be debilitating
What are the psychological clinical features of EDS?
Anxiety
Depression
What are the dental clinical features of EDS?
Chronic temporomandibular dislocation
Name the 13 subtypes of EDS
- Classical EDS (cEDS)
- Classical-like EDS (clEDS)
- Cardiac-valvular (cvEDS)
- Vascular EDS (vEDS)
- Hypermobile EDS (hEDS)
- Arthrochalasia EDS (aEDS)
- Dermatosparaxis EDS (dEDS)
- Kyphoscoliotic EDS (kEDS)
- Brittle cornea syndrome (BCS)
- Spondylodysplastic EDS (spEDS)
- Musculocontractural EDS (mcEDS)
- Myopathic EDS (mEDS)
- Periodontal EDS (pEDS)
What is the most common form of EDS?
Hypermobile EDS
What are the main presenting features of hEDS?
Joint hypermobility
Stretchy (but not fragile) skin
Fatigue and MSK pain
+ve FHx
Severe widespread symptoms and chronic pain
Which conditions are common in hEDS?
Rectal prolapse
Genitourinary prolapse
Heart valve abnormalities can occur
What is the main tool used to assess generalised joint hypermobility (GJH)? (part of criterion 1)
Beighton score
A 9-point scale to assess hypermobility
What is the Beighton score cut off for GJH in children? (part of criterion 1)
6 or above
What is the Beighton score cut off for GJH in adults aged up to 50 years? (part of criterion 1)
5 or above
What is the Beighton score cut off for GJH in adults older than 50 years? (part of criterion 1)
4 or more
What are the questions of the 5-point questionnaire used to assess hypermobility?
- Can you now, or could you ever, place your hands flat on the floor without bending your knees?
- Can you now, or could you ever bend your thumb to touch your forearm?
- As a child, did you amuse your friends by contorting your body into strange shapes, or could you do the splits?
- As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion?
- Do you consider yourself to be ‘double-jointed’?
A ‘yes’ answer to 2 or more suggests joint hypermobility
80-85% sensitivity and 80-90% specificity
What are the feature A systemic manifestations of EDS? (part of criterion 2)
A total of FIVE must be present
Unusually soft or velvety skin
Mild skin hyperextensibility
Unexplained striae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a Hx of significant gain or loss of body fat or weight
Bilateral piezogenic papules of the heel
Recurrent or multiple abdo hernias - umbilical, inguinal, crural (i.e., related to leg or the thigh)
Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS.
Pelvic floor, rectal and/or uterine prolapse in children, men or nulliparous women, without a known predisposing medical condition.
Dental crowding and high or narrow palate.
Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg’s sign) on both sides; (ii) positive thumb sign (Walker’s sign) on both sides.
Arm span-to-height ratio ≥1.05.
Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria.
Aortic root dilatation with Z-score >+2
What are piezogenic papules?
Painful or asymptomatic papules of the feet and wrists that result from herniation of fat through the dermis
What are the feature B features of EDS? (part of criterion 2)
+ve FHx - with one or more 1st degree relatives independently meeting the current Dx criteria for EDS
What are the feature C features of EDS? (part of criterion 2)
MSK complications (must have a least one):
- MSK pain in 2 or more limbs, recurring daily for at least 3 months
Chronic, widespread pain for ≥3 months
Recurrent joint dislocations or frank joint instability, in the absence of trauma (a or b):
a: three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints, occurring at different times.
b: joint instability at two or more sites not related to trauma.
What are the prerequisites for criterion 3?
No unusual skin fragility, which should prompt consideration of other types of EDS.
Exclusion of other heritable and acquired connective tissue disorders, including autoimmune rheumatological conditions.
Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity (eg, neuromuscular disorders, other HCTDs such as Marfan’s syndrome) and skeletal dysplasias
Which of the criteria must be met before a diagnosis of hEDS can be made?
They should meet all of criterion 1, 2, and 3
What is the requirement for criterion 2 to be met?
2 or more of A-C MUST be present
What other features are described in hEDS but not specific or sensitive enough to form part of the formal diagnostic criteria?
Sleep disturbance and fatigue.
Postural tachycardia syndrome (causing fast heart rate, dizziness and fainting).
Gastrointestinal disorders (unexplained abdominal pain, IBS, constipation).
Anxiety, depression, panic disorder.
Urinary dysfunction.
Tendency to nausea.
Generalised pain.
Headaches
What is the Mx of hEDS?
Regular gentle exercise
Maintain BMI within recommended range to maintain cardiovascular and muscular fitness and to keep joints mobilised and healthy
Pilates - can be beneficial in maintaining core stability and good posture
Avoid contact team sports e.g., rugby & football due to increased risk of injury
Do less high-risk activities e.g., tennis or swimming
Referral to medical specialties e.g., pain management, rheumatology, physiotherapy or OT
Periodic echocardiography advisable - look for ‘floppy’ mitral valve or aortic regurgitation
What happens to joint hypermobility during pregnancy?
Increases - can result in further instability and joint pain
Increased chance of early rupture of the membranes, of rapid labour and of breech presentation
