Ehlers-Danlos Syndrome

Holly Clayton, B.A. (Hons.)M.A. & Neuro Grad Diploma CandidateSensorimotor Control LabDepartment of PsychologyYork University

Expected Outcomes

• Having a general understanding of what Ehlers-Danlos Syndrome is and what the symptoms are.

• Distinguishing between the 3 most prominent types of EDS.

• Understanding the heritability of EDS as a genetic disorder.

• Learning how to score a patient on the Beighton criteria to determine the degree of hypermobility.

What is Ehlers-Danlos Syndrome?

• A group of inherited connective tissue disorders.

• Defects in various genes that code collagen synthesis.

• Collagen in connective tissue helps the skin, muscles, ligaments, blood vessels and visceral organs to resist deformation.

• In EDS, collagen has increased elasticity, which results in the observed pathology.

• Severity of symptoms can range from mild to life threatening.

• It is often undiagnosed, or misdiagnosed.

a) Normal collagen fibrils

b) Collagen fibrils in EDS (classical type)

“The Joint Hypermobility Handbook”, Dr. Brad T. Tinkle (2010)

Symptoms - Hypermobility

Being able to move the joints beyond normal limits may result in chronic dislocations and joint pain. Often patients need to invest in supportive braces to limit these injuries.

Symptoms – Stretchy Skin

Stretchy skin often results in poor wound healing, extensive bruising and is velvety soft to touch.

Symptoms - Dysautonomia

Dysautonomia is the broad term to describe malfunction of the autonomic nervous system.

Less Common Symptoms

• Low bone density• Club foot• Deformities of the spine,• Chiari malformation (head & neck compression)• Functional bowel disorders • Dental issues• Nerve compression disorders • Vascular skin conditions -------------------• Blue sclera• Swan neck deformity of the fingers • Insensitivity to local anaesthetics• Premature births• Inability of blood platelets to clump• Weak muscle tone during infancy, delaying motor development• Arterial/intestinal/uterine fragility or rupture

Types of Ehlers-Danlos Syndrome

• Classical (Types 1 & 2) involves mostly skin related symptoms and limited hypermobility. It affects about 1/20,000 – 50,000

• Hypermobility (Type 3) is characterized by high hypermobility of the joints. It affects approximately 1/10,000 – 15,000

• Vascular (Type 4) is characterized by the rupturing of blood vessels and organs. It is the most severe form of EDS. Patients of this type are usually small in stature and may have fatal health issues by age 40. It affects about 1/100,000 – 200,000.

TW – Classic Type

NO – Hypermobility Type

MV – Vascular Type

Autosomal Dominant Conditions

• The 3 most common types of EDS follow the autosomal dominant pattern of inheritance.

• There is a 50% chance of a person with EDS having a child that also has EDS.

• The child will be the same type as the parent.

• They will have similar symptoms as the affected parent, but the symptoms may differ in degree of severity.

The Beighton Score

• A popular screening technique for hypermobility.

• Requires the performance of 9 maneuvers.

• A point is gained for each movement that the subject can positively perform.

• A minimum of 3 points to be considered mildly hypermobile.

• A maximum of 9 points would indicate extreme hypermobility.

• Is easy and quick to perform, even in large populations.

• Movements 1-4 are performed on both the right and left sides of the body. Total = 9 possible points

“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)

The Beighton Score

• The ability to passively extend the elbow to ≥ 10˚.

• One point is gained for performing this maneuver in each of the arms.

“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)

The Beighton Score

• The ability to passively appose the thumb to the volar aspect of the forearm.

• One point is gained for performing this maneuver in each of the hands.

“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)

The Beighton Score

• The ability to passively flex the fifth metacarpophalangeal joint to ≥ 90˚.

• One point is gained for performing this maneuver in each of the hands.

“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)

The Beighton Score

• The ability to passively hyperextend the knee to ≥ 10˚.

• One point is gained for the ability to perform this maneuver in each of the legs.

“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)

The Beighton Score

• The ability to actively place BOTH hands AND feet flat on the floor, WITHOUT bending the knees

“Hypermobility Syndrome”, Rosemary Keer & Rodney Grahame, (2003)

Summary

• EDS is an inheritable genetic disorder caused by mutation(s) in various types of collagen.

• There is a wide range of symptoms that affect connective tissues throughout the entire body.

• The 3 main types are classical, hypermobile and vascular.

• It is typically autosomal dominant.

• Hypermobility can be assessed using the Beighton Scale.

Are you Hypermobile?

• Perform each of the movements in the Beighton Scale

• Total your points on the sheet provided• A minimum score of 3 indicates mild

hypermobility.

• Additionally, please write one sentence describing what you think is the most important fact to know about EDS.