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Ehlers-Danlos Syndrome
By Annaliese Patten
What is this?
genetic defect with the collagen in the connective
tissue
Classified as a structural problem
6 major types:
Hypermobility- hyperextensible, joints, dislocations, bruising, chronic pain
Classical- hyperelastic skin, hernias, severe scarring, muscle movement delay
Vascular (lethal)- thin skin, certain facial problems, arterial/intestinal/uterine fragility
Kyphoscoliosis- joint laxity, weak muscle tone, scoliosis, tissue fragility=scarring, bruising
Arthrochalasia- congenital hip dislocation, skin elastic, skin fragility
Dermatosparaxis- severe skin fragility, skin texture-soft, sagging, redundant, large hernias
How is each one Diagnosed?
Hypermobility
dominant, no identifying collagen marker
Classical
dominant, abnormal electrophoretic mobility of the proa1(V) or proa2(V) = COL5A1, COL5A2
Vascular
skin biopsy, dominant, structural defects - proa1(III) chain of collagen type III = encoded COL3A1
Kyphoscoliosis
urine test, recessive, deficiency of PLOD1 (collagen-modifying enzyme)
Where is this located?
ADAMTS2 (chr5), COL1A1 (chr17), COL1A2 (chr7), COL3A1 (chr2), COL5A1
(chr9), COL5A2 (chr2), PLOD1 (chr1), TNXB (chr6) genes
instructions for proteins used to assemble different types of collagen
COL1A1, COL1A2, COL3A1, COL5A1, COL5A2
instructions for proteins = process/interact with collagen
ADAMTS2, PLOD1, TNXB
How does this Impact a family?
No cure
medications, therapy = help with certain symptoms
When puberty starts for the individual
Can be either autosomal dominant or recessive
Genetic Counselor recommended - all types except H
Need to have the specific gene marker to pass on type
Why can EDS cause someone to have a lethal variation
while another person can have a non-lethal variation?
Vascular- arterial/intestinal/uterine rupture, tendon and muscle rupture, collapsed
lung, opening between artery and vein
proa1(III) chain of collagen type III - encoded COL3A1 (assemble different types)
Where the collagen marker is
Bibliography
http://ednf.org/
http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
http://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
http://ghr.nlm.nih.gov/gene/COL3A1
http://librarianinblack.net/librarianinblack/annual-reminder-of-ehlers-danlos-syndrome-awareness-month/
http://rhrealitycheck.org/article/2014/04/08/virginias-conscience-clause-genetic-counselors-set-nationalprecedent/
http://www.medscape.com/viewarticle/585001_2