Ehlers-Danlos syndrome

Question 1

What are Ehlers-Danlos syndromes (EDS)?

Answer 1

Group of heritable, CTDs characterised by:
- joint hypermobility

• skin hyperextensibility
• tissue fragility

Question 2

How many subtypes of EDS are there?

Answer 2

13

Question 3

Which body systems do most types of EDS affect?

Answer 3

Joints

Skin

Question 4

Which additional features of EDS can vary by subtype?

Answer 4

Mucocutaneous

Vascular

Ocular

Psychological

Systemic

Question 5

What is the range of the clinical spectrum for EDS?

Answer 5

Mild joint hypermobility to severe morbidity and disability, with life threatening (mainly vascular) complications (esp. the vascular subtype)

Question 6

What is the estimated prevalence of EDS?

Answer 6

1:5,000 to 1:250,000 births

Question 7

Does EDS affect men or women more?

Answer 7

Women

F:M = 8:1

Question 8

What is a common clinical feature amongst EDS patients?

Answer 8

Chronic widespread pain

Question 9

What are the clinical features relating to the skin in EDS patients?

Answer 9

Varying degrees of skin elasticity and fragility

Easy bruising

Scars tending to widen

Easy splitting of skin (esp. forehead, knees and elbows)

Question 10

What are the clinical features relating to the joints in EDS patients?

Answer 10

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

Question 11

What is pes planus?

Answer 11

Flat feet

Loss of the medial longitudinal arch of the foot

Question 12

What are the clinical features relating to the cardiovascular system in EDS patients?

Answer 12

Dizziness

Palpitations

Dysautonomia

Occasional heart valve abnormalities (in the rare vascular subtypes major vascular rupture is life-threatening)

Question 13

What are the clinical features relating to the GI system in EDS patients?

Answer 13

Unexplained abdo pain

IBS

Constipation

In some types:
- diverticulae
- constipation or rupture
- rectal prolapse

More prone to nausea and travel sickness

Question 14

What are the clinical features relating to the musculoskeletal system in EDS patients?

Answer 14

Herniation

Hypotonia

Delayed motor development

Kyphoscoliosis

Dental abnormalities

Question 15

What are the clinical features relating to the ocular system in EDS patients?

Answer 15

Abnormalities of the globe and cornea

Question 16

What are the clinical features relating to the vestibulocochlear system in EDS patients?

Answer 16

Tinnitus - due to lax support to the ear ossicles

Question 17

What are the clinical features relating to the urogynaecological system in EDS patients?

Answer 17

Uterocervical prolapse

Obstetric complication

Question 18

What are the obstetric complications related to EDS?

Answer 18

morning sickness

early membrane rupture

precipitate labour

perineal and vaginal trauma

PROM

In the rare vascular type pregnancy can lead to uterine rupture

Question 19

What are the systemic clinical features of EDS?

Answer 19

Tiredness

Fatiguability

Sleep disturbance

N.B., although these symptoms are not required for diagnosis they are often dominant and can be debilitating

Question 20

What are the psychological clinical features of EDS?

Answer 20

Anxiety

Depression

Question 21

What are the dental clinical features of EDS?

Answer 21

Chronic temporomandibular dislocation

Question 22

Name the 13 subtypes of EDS

Answer 22

1. Classical EDS (cEDS)
2. Classical-like EDS (clEDS)
3. Cardiac-valvular (cvEDS)
4. Vascular EDS (vEDS)
5. Hypermobile EDS (hEDS)
6. Arthrochalasia EDS (aEDS)
7. Dermatosparaxis EDS (dEDS)
8. Kyphoscoliotic EDS (kEDS)
9. Brittle cornea syndrome (BCS)
10. Spondylodysplastic EDS (spEDS)
11. Musculocontractural EDS (mcEDS)
12. Myopathic EDS (mEDS)
13. Periodontal EDS (pEDS)

Question 23

What is the most common form of EDS?

Answer 23

Hypermobile EDS

Question 24

What are the main presenting features of hEDS?

Answer 24

Joint hypermobility

Stretchy (but not fragile) skin

Fatigue and MSK pain

+ve FHx

Severe widespread symptoms and chronic pain

Question 25

Which conditions are common in hEDS?

Answer 25

Rectal prolapse Genitourinary prolapse Heart valve abnormalities can occur

Question 26

What is the main tool used to assess generalised joint hypermobility (GJH)? (part of criterion 1)

Answer 26

Beighton score A 9-point scale to assess hypermobility

Question 27

What is the Beighton score cut off for GJH in children? (part of criterion 1)

Answer 27

6 or above

Question 28

What is the Beighton score cut off for GJH in adults aged up to 50 years? (part of criterion 1)

Answer 28

5 or above

Question 29

What is the Beighton score cut off for GJH in adults older than 50 years? (part of criterion 1)

Answer 29

4 or more

Question 30

What are the questions of the 5-point questionnaire used to assess hypermobility?

Answer 30

1. Can you now, or could you ever, place your hands flat on the floor without bending your knees? 2. Can you now, or could you ever bend your thumb to touch your forearm? 3. As a child, did you amuse your friends by contorting your body into strange shapes, or could you do the splits? 4. As a child or teenager, did your shoulder or kneecap dislocate on more than one occasion? 5. 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

Question 31

What are the feature A systemic manifestations of EDS? (part of criterion 2)

Answer 31

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

Question 32

What are piezogenic papules?

Answer 32

Painful or asymptomatic papules of the feet and wrists that result from herniation of fat through the dermis

Question 33

What are the feature B features of EDS? (part of criterion 2)

Answer 33

+ve FHx - with one or more 1st degree relatives independently meeting the current Dx criteria for EDS

Question 34

What are the feature C features of EDS? (part of criterion 2)

Answer 34

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.

Question 35

What are the prerequisites for criterion 3?

Answer 35

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

Question 36

Which of the criteria must be met before a diagnosis of hEDS can be made?

Answer 36

They should meet all of criterion 1, 2, and 3

Question 37

What is the requirement for criterion 2 to be met?

Answer 37

2 or more of A-C MUST be present

Question 38

What other features are described in hEDS but not specific or sensitive enough to form part of the formal diagnostic criteria?

Answer 38

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

Question 39

What is the Mx of hEDS?

Answer 39

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

Question 40

What happens to joint hypermobility during pregnancy?

Answer 40

Increases - can result in further instability and joint pain Increased chance of early rupture of the membranes, of rapid labour and of breech presentation