Heritable Disorders of the Connective Tissue Flashcards
HDCT definition and commonalitys
Affect connective tissue matrix proteins
All have joint laxity and hypermobility
Benign joint hypermobility syndrome and overlaps
Wider range of overlap syndromes with lesser seveity
Marfanoid habitus with Marfan
Stretchy skin with Ehlers-Danlos
Osteopenia with osteogenesis imperfecta
Marfans diagnostic criteria and defective gene
W/out FH, then need at least arotic dilation or ectopia lentis
Systemic score of >7 is only useful is pt has a pos FH or confirmirmed aortic dilation
FBN1/fibrillin
Marfan inheritance and therapy
Auto Dom
Beta blockers…maybe angiotensin receptor blockers
E-D classic major diagnostic and minor
Major - combination of 3 - skin hyperextneding, widened atrophic scars, joint hypermobility
Minor - one or more…smooth skin, molluscoid pseudotumors, subcutaneous spheroids, complications of hypermobility, surg complications
E-D classic genes, inheritance, therapy
Primaril COL5A1 and COL5A2
AutoDom
Vit C may help bruising
E-D vascular type major and minor
Major - arterial aneurysms, dissection, or rupture, intestinal rupture, uterine rupture during pregnancy, FH
Minor - thin, translucent skin, charactersitc facial appearance, acrogeria, carotid-cavernous sinus AV fistula, hypermobility, varicose veins
ED vascular Genetics, inheritance, therapy
COL3A1
AD
Beta-blocker
BJHS/ED hypermobile type major and minor
Major - joint hypermobility, soft skin with normal or only slightly increased extensibility, ABSENCE of fragility or ofther significant skin or soft-tissue abnormaility
Minor - FC, dislocation of joints, chronic pain, easy bruising, bowel.
BJHS/ED hypermobile type genes, inheritance, therapy
unknown
AD
Hypermobility PT
OI genes, inheritance, therapy
Mutations in COL1A1 and COL1A2
Most AD but some recessive
IV bisphosphonates
Features of OI
Fractures with minimal trauam Short stature Blue/grey sclera hue Dntinogenesis imperfecta Progressive, post-pub hearing loss Ligamentous laxity Family hisotyr
