Ehlers-Danlos Syndrome
The Hypermobility Syndromes
Major EDS Types
Critical Must-Knows
- Hypermobile EDS: Most common. Joint instability, chronic pain.
- Vascular EDS: COL3A1 mutation. Arterial rupture risk.
- Beighton Score: Quantifies hypermobility (greater than 4/9).
- Skin: Hyperextensible, easy bruising, poor healing.
- Surgery Caution: Poor tissue healing.
Examiner's Pearls
- "Beighton score for hypermobility
- "Vascular EDS is dangerous
- "Surgery has poor healing
- "Chronic pain is common
Clinical Imaging
Imaging Gallery
Vascular EDS
Vascular EDS (COL3A1 mutation) is DANGEROUS.
- Risk of arterial rupture, bowel perforation.
- AVOID invasive procedures if possible.
- Median life expectancy reduced (40-50 years).
- Genetic testing before major surgery.
EDS Types
| Type | Gene/Inheritance | Key Features |
|---|---|---|
| Unknown gene/AD | Most common, joint instability, pain | |
| COL5A1/AD | Skin hyperextensibility, scarring | |
| COL3A1/AD | Arterial rupture, thin skin | |
| PLOD1/AR | Severe scoliosis, hypotonia |
Beighton Score
Memory Hook:PTEKF - Pinky, Thumb, Elbow, Knee, Forward flex. Total 9 points.
EDS Features
Memory Hook:HSPD - Hypermobility, Skin, Pain, Dislocations.
Vascular EDS Red Flags
Memory Hook:TRAP - Thin skin, Rupture, Avoid surgery, Poor prognosis.
CAREEDS Surgical Precautions
Memory Hook:Take CARE with EDS patients - surgery outcomes are less predictable!
Overview/Epidemiology
Ehlers-Danlos Syndrome (EDS) is a group of connective tissue disorders.
- Genetics: Multiple types with different genes. Most autosomal dominant.
- Prevalence: 1 in 5,000 (hEDS more common).
- Pathophysiology: Defects in collagen or proteins that interact with collagen.
Anatomy and Pathomechanics
Collagen Abnormalities
- Different types affect different collagen genes.
- Leads to weak ligaments, skin, blood vessels.
Why Joint Instability Occurs
- Ligaments are lax and cannot stabilize joints.
- Recurrent subluxations and dislocations.
- Chronic pain from microtrauma and joint damage.
Classification Systems
Hypermobile EDS (hEDS)
- Most common type.
- Unknown gene (clinical diagnosis).
- Generalized joint hypermobility (Beighton greater than 4/9 in adults or 5/9 in children).
- Chronic pain, fatigue.
- Joint instability, dislocations.
Clinical Assessment
History:
- Joint dislocations/subluxations.
- Chronic pain, fatigue.
- Easy bruising.
- Wound healing problems.
- Family history.
Physical Exam:
- Beighton Score: Assess hypermobility.
- Skin: Hyperextensibility, texture, scars.
- Joints: Instability, signs of previous dislocations.
Investigations
Clinical Diagnosis:
- hEDS is diagnosed clinically (no genetic test available).
Genetic Testing:
- Classical, Vascular, and other types can be confirmed genetically.
- Consider vascular EDS testing before major surgery if suspected.
Management Algorithm
Conservative Management
- Physiotherapy: Strengthen muscles around joints to provide stability.
- Pain Management: Multimodal approach.
- Activity Modification: Avoid hyperextension, high-impact activities.
- Bracing: For unstable joints.
Surgical Techniques
Joint Stabilization
Indications: Recurrent dislocations (shoulder, patella).
Technique: Standard stabilization procedures (Bankart, MPFL, etc.).
Considerations: Use stronger fixation, cautious tissue handling. Expect higher recurrence. Prolonged immobilization may help.
Complications
| Complication | Context | Management |
|---|---|---|
| Wound Dehiscence | Poor healing | Meticulous closure, sutures longer |
| Recurrent Instability | Surgery failure | Accept higher failure rate |
| Chronic Pain | Disease-related | Multimodal pain management |
| Arterial Rupture | Vascular EDS | Avoid procedures |
Postoperative Care
- Extended Immobilization: Tissues need longer to heal.
- Careful Suturing: Leave sutures longer.
- Physiotherapy: Gradual, cautious.
Outcomes/Prognosis
- hEDS: Normal lifespan but chronic symptoms.
- Vascular EDS: Reduced life expectancy (arterial rupture).
- Surgical Outcomes: Higher failure rate than general population.
Evidence Base
- 2017 International Classification of EDS
- 13 subtypes defined
- Diagnostic criteria updated
- hEDS diagnostic criteria
- Three criteria required
- Clinical diagnosis
- Vascular EDS natural history
- High mortality from arterial rupture
- Median survival 40-50 years
- Musculoskeletal manifestations in hEDS
- Chronic pain common
- Physiotherapy helpful
- Hypermobile EDS diagnostic criteria
- Beighton score cutoffs defined
- Excludes other heritable CTDs
Viva Scenarios
Practice these scenarios to excel in your viva examination
Recurrent Shoulder Dislocations
"20-year-old female with recurrent anterior shoulder dislocations. Beighton score 8/9. Easy bruising. How do you manage?"
This patient likely has **hypermobile EDS** given the high Beighton score and easy bruising. Management: First-line is **conservative** - physiotherapy to strengthen rotator cuff and scapular stabilizers, activity modification, bracing. If surgery is needed, I would counsel about **higher failure rates** due to poor tissue quality. I would use stronger fixation techniques and prolonged post-op immobilization. I would also consider genetic testing to exclude vascular EDS before surgery.
Vascular EDS Screening
"Same patient mentions her mother died of arterial rupture at age 45. What do you do now?"
This raises concern for **vascular EDS** (COL3A1 mutation), which has autosomal dominant inheritance. Arterial rupture is a major feature. I would **not proceed with elective surgery** until this is excluded. I would refer for **genetic testing** for vascular EDS. If confirmed, invasive procedures should be avoided if possible. The patient would need regular surveillance and genetic counseling.
Beighton Score
"How do you assess the Beighton Score?"
The **Beighton Score** assesses generalized joint hypermobility. It has **9 points**: (1) Little finger extension over 90° - 1 point each side. (2) Thumb to forearm - 1 point each side. (3) Elbow hyperextension over 10° - 1 point each side. (4) Knee hyperextension over 10° - 1 point each side. (5) Palms flat on floor with knees straight - 1 point. Score **over 4/9 in adults** (or over 5/9 in children) indicates generalized hypermobility.
MCQ Practice Points
Type MCQ
Q: Which EDS type is most common? A: Hypermobile EDS (hEDS).
Dangerous MCQ
Q: Which EDS type has the highest mortality? A: Vascular EDS (COL3A1) - arterial rupture.
Assessment MCQ
Q: What score assesses hypermobility? A: Beighton Score (over 4/9 in adults).
Surgery MCQ
Q: What is a concern with surgery in EDS? A: Poor tissue healing, higher recurrence rates.
Genetics Pearl
Q: What gene is mutated in vascular EDS? A: COL3A1 (Type III collagen). This causes arterial rupture, bowel perforation, and thin translucent skin.
Diagnosis Pearl
Q: How is hEDS different from other EDS types for diagnosis? A: hEDS has no genetic test - it is diagnosed clinically. All other EDS types can be confirmed with genetic testing.
Australian Context
- Genetic Testing: Available for most EDS types except hEDS.
- Support: EDS Australia.
- Multidisciplinary Care: Genetics, rheumatology, physiotherapy.
- Pain Services: Often needed for chronic pain management.
EHLERS-DANLOS SYNDROME
High-Yield Exam Summary
TYPES
- •hEDS: Most common
- •Classical: Skin
- •Vascular: Dangerous
- •Kyphoscoliotic: Scoliosis
FEATURES
- •Hypermobility
- •Skin hyperextensibility
- •Dislocations
- •Chronic pain
BEIGHTON SCORE
- •Pinky, Thumb, Elbow
- •Knee, Forward flex
- •9 points total
- •greater than 4/9 = positive
SURGERY
- •Higher failure
- •Poor healing
- •Avoid in vascular EDS
- •Conservative first
VASCULAR EDS
- •COL3A1 mutation
- •Arterial rupture
- •Bowel perforation
- •Median survival 40-50 years
KEY GENES
- •hEDS: Unknown
- •Classical: COL5A1
- •Vascular: COL3A1
- •Kyphoscoliotic: PLOD1
Self-Assessment Quiz
Differential Diagnosis
Hypermobility Spectrum Disorders:
| Condition | Key Features | Differentiator |
|---|---|---|
| Hypermobile EDS | Joint instability, pain | Beighton positive, clinical dx |
| Benign Joint Hypermobility | Hypermobility only | No systemic features |
| Marfan Syndrome | Tall, aortic root | FBN1 mutation, lens UP |
| Loeys-Dietz | Bifid uvula | TGFBR1/2 |
| Osteogenesis Imperfecta | Fragile bones | COL1A1/2, blue sclerae |
Key Distinguishing Points:
- EDS: Skin AND joint involvement, chronic pain
- Marfan: Cardiovascular focus, tall thin habitus
- OI: Bone fragility primary (fractures)
- Benign hypermobility: Hypermobility only, no pain syndrome