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Rheumatology > Ehlers-Danlos syndrome > Flashcards

Ehlers-Danlos syndrome Flashcards

1
Q

What are Ehlers-Danlos syndromes (EDS)?

A

Group of heritable, CTDs characterised by:
- joint hypermobility

  • skin hyperextensibility
  • tissue fragility
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2
Q

How many subtypes of EDS are there?

A

13

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3
Q

Which body systems do most types of EDS affect?

A

Joints

Skin

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4
Q

Which additional features of EDS can vary by subtype?

A

Mucocutaneous

Vascular

Ocular

Psychological

Systemic

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5
Q

What is the range of the clinical spectrum for EDS?

A

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

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6
Q

What is the estimated prevalence of EDS?

A

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

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7
Q

Does EDS affect men or women more?

A

Women

F:M = 8:1

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8
Q

What is a common clinical feature amongst EDS patients?

A

Chronic widespread pain

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9
Q

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

A

Varying degrees of skin elasticity and fragility

Easy bruising

Scars tending to widen

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

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10
Q

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

A

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

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11
Q

What is pes planus?

A

Flat feet

Loss of the medial longitudinal arch of the foot

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12
Q

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

A

Dizziness

Palpitations

Dysautonomia

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

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13
Q

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

A

Unexplained abdo pain

IBS

Constipation

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

More prone to nausea and travel sickness

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14
Q

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

A

Herniation

Hypotonia

Delayed motor development

Kyphoscoliosis

Dental abnormalities

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15
Q

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

A

Abnormalities of the globe and cornea

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16
Q

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

A

Tinnitus - due to lax support to the ear ossicles

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17
Q

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

A

Uterocervical prolapse

Obstetric complication

18
Q

What are the obstetric complications related to EDS?

A

morning sickness

early membrane rupture

precipitate labour

perineal and vaginal trauma

PROM

In the rare vascular type pregnancy can lead to uterine rupture

19
Q

What are the systemic clinical features of EDS?

A

Tiredness

Fatiguability

Sleep disturbance

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

20
Q

What are the psychological clinical features of EDS?

A

Anxiety

Depression

21
Q

What are the dental clinical features of EDS?

A

Chronic temporomandibular dislocation

22
Q

Name the 13 subtypes of EDS

A
  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)
23
Q

What is the most common form of EDS?

A

Hypermobile EDS

24
Q

What are the main presenting features of hEDS?

A

Joint hypermobility

Stretchy (but not fragile) skin

Fatigue and MSK pain

+ve FHx

Severe widespread symptoms and chronic pain

25
Q

Which conditions are common in hEDS?

A

Rectal prolapse

Genitourinary prolapse

Heart valve abnormalities can occur

26
Q

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

A

Beighton score

A 9-point scale to assess hypermobility

27
Q

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

A

6 or above

28
Q

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

A

5 or above

29
Q

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

A

4 or more

30
Q

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

A
  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

31
Q

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

A

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

32
Q

What are piezogenic papules?

A

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

33
Q

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

A

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

34
Q

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

A

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.

35
Q

What are the prerequisites for criterion 3?

A

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

36
Q

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

A

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

37
Q

What is the requirement for criterion 2 to be met?

A

2 or more of A-C MUST be present

38
Q

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

A

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

39
Q

What is the Mx of hEDS?

A

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

40
Q

What happens to joint hypermobility during pregnancy?

A

Increases - can result in further instability and joint pain

Increased chance of early rupture of the membranes, of rapid labour and of breech presentation

Rheumatology (6 decks)

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