Ehlers-Danlos Syndromes

What is it?
A group of inherited disorders with wide
phenotypic variability but that involve
primarily connective tissues
Often involved are skin, joints, and blood
vessel walls
Defects are caused by genetic mutations
affecting collagen production
There are 6 major types (but LOTS of
variability)
General Symptoms
Stretchy skin
Flexible joints with hypermobility
Hernias
Abnormal wound healing/stretching scars
Joint dislocations
Easy bruising
Muscle weakness
Heart and vascular problems such as
aneurysms, MVP, aortic root dilatation
Uterine and intestinal rupture
Joint and Skin Findings

Differential Diagnoses
Marfan Syndrome
Benign Hypermobility Joint Syndrome
Diagnosed by Beighton score, Beighton criteria
Loeys-Dietz Syndrome
Stickler Syndrome
Williams Syndrome
Aarskog-Scott Syndrome
Fragile X Syndrome
Achondroplasia, hypochondroplasia
Classical Type (Types I & II)
Generalized hyperextensibility of joints
and skin
Easy bruising, hemarthroses
Poor wound healing and retention of
sutures
Congenital dislocation of hips
Scoliosis
MVP

Hypermobility Type (Type III)
Most common type (1 in 10-15,000)
Joint hyperextensibility
Chronic degenerative joint disease
Less skin involvement
Advanced premature OA with pain
MVP

Vascular Type (Type IV)
Most serious type (1 in 250,000)
Prone to ruptured/dissected arteries and
aneurysms, intestinal and uterine rupture
Easy bruising
Visible veins beneath thin, translucent skin
Protruding eyes, thin nose/lips, sunken cheeks,
small chin
Joint involvement variable
Relative deficiency in type III collagen
Kyphoscoliosis Type (Type VI)
Arthrochalasia Type (Type
VIIA/VIIB)
Dermatosparaxis Type (Type
VIIC)

Genetic Inheritance
Primarily Autosomal Dominant
Kyphoscoliosis and dermatosparaxis types
are inherited in Autosomal Recessive
pattern
Diagnosis
Family History/Pedigree
Physical Exam/History
ECHO
DEXA
Skin biopsy for vascular type
Urine test for kyphoscoliosis type
Genetic testing for classical, vascular,
kyphoscoliosis and arthrochalasis types
Can do prenatal and pre-implantation testing
Family Tree
?
13 aortic
aneurysm
44
69
28 aortic
aneurysm,
aneurysm of
kidney
28
AA
28
AA
31 AA, cerebral
hemorrhage
45
AAA
45 ?valve
replacement
Complications
Scarring (molluscoid pseudotumors)
Difficulty healing surgical wounds and
sutures that tear out
Chronic joint pain and joint dislocations
Eye problems globe rupture
Premature rupture of membranes
Rupture/dissection of major vessels or
organs (uterine, intestinal, aortic)
Treatment
Managing sx and preventing complications
Rehabilitation PT/OT, aquatic therapy
Patient education
Body mechanics
NSAIDs, chronic pain management
Orthopedics and possible role for braces
Antibiotic prophylaxis if MVP
Minimize trauma and meticulous hemostasis
during surgery
Genetic counseling

References
Klippel, John. Primer on the Rheumatic Diseases.
Edition 12. Atlanta, GA: Arthritis Foundation; 2001:
584-586.
www.utdol.com
www.mayoclinic.com
Ramanath VS, Oh JK, Sundt III TM, Eagle KA. Acute
Aortic Syndromes and Thoracic Aortic Aneurysm. Mayo
Clinic Proceedings. 2009; 84(5):465-479.
Beighton P, DePaepe A, Steinmann B, Tsipouras
P and Wenstrup RJ. Ehlers-Danlos Syndromes:
Revised Nosology, Villefranche, 1977. Am J Med Gen
1998; 77: 31-37
http://www.ncbi.nlm.nih.gov