Ehlers-Danlos Syndromes

Emily Chang
AM report
May 18, 2009
 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
45 28 aortic
AAA aneurysm,
aneurysm of
kidney

? 69 28 31 AA, cerebral
AA hemorrhage

44

45 ?valve 28
replacement AA

13 aortic
aneurysm
 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
 Dancing . . .

SYTYCD 2008

DWTS 2009