Ehlers-Danlos Syndromes

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Ehlers-Danlos Syndromes

• Emily Chang
• AM report
• May 18, 2009

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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)

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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

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Joint and Skin Findings

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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

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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

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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

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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

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Kyphoscoliosis Type (Type VI) Arthrochalasia
Type (Type VIIA/VIIB) Dermatosparaxis Type
(Type VIIC)
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Genetic Inheritance

• Primarily Autosomal Dominant
• Kyphoscoliosis and dermatosparaxis types are
  inherited in Autosomal Recessive pattern

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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

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Family Tree
28 aortic aneurysm, aneurysm of kidney
45 AAA
?
69
28 AA
31 AA, cerebral hemorrhage
44
28 AA
45 ?valve replacement
13 aortic aneurysm
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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)

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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

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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

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Dancing . . .
SYTYCD 2008
DWTS 2009