1 / 16

Ehlers-Danlos Syndromes

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

tavita
Download Presentation

Ehlers-Danlos Syndromes

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Ehlers-Danlos Syndromes Emily Chang AM report May 18, 2009

  2. 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)

  3. 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

  4. Joint and Skin Findings

  5. 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

  6. 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

  7. 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

  8. 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

  9. Kyphoscoliosis Type (Type VI) Arthrochalasia Type (Type VIIA/VIIB) Dermatosparaxis Type (Type VIIC)

  10. Genetic Inheritance • Primarily Autosomal Dominant • Kyphoscoliosis and dermatosparaxis types are inherited in Autosomal Recessive pattern

  11. 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

  12. 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

  13. 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)

  14. 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

  15. 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

  16. Dancing . . . SYTYCD 2008 DWTS 2009

More Related