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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

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ehlers danlos syndromes

Ehlers-Danlos Syndromes

Emily Chang

AM report

May 18, 2009

what is it
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
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
differential diagnoses
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
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
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
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
Kyphoscoliosis Type (Type VI) Arthrochalasia Type (Type VIIA/VIIB) Dermatosparaxis Type (Type VIIC)
genetic inheritance
Genetic Inheritance
  • Primarily Autosomal Dominant
  • Kyphoscoliosis and dermatosparaxis types are inherited in Autosomal Recessive pattern
diagnosis
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
Family Tree

45 AAA

28 aortic aneurysm, aneurysm of kidney

?

69

28 AA

31 AA, cerebral hemorrhage

44

28 AA

45 ?valve replacement

13 aortic aneurysm

complications
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
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
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
Dancing . . .

SYTYCD 2008

DWTS 2009