Heritable Connective Tissue Disorders Flashcards
overview of HCTD
Genetic background for marfan syndrome
- single gene mutation (AUTOSOMAL DOMINANT) OF THE FBN1 (Fibrillin gene)
- affects MSK, ocular, cardiovascular
- life expectancy of 40-45, prognosis related to aortic complications
clinical manifestations of Marfan syndrome
how can you prevent the cardiac outcomes in someone with marfans
at the end of the day, most will live to 40-45 and die due to aortic rupture or ectopia lentis.BUT they should be on beta blockers or ARB, might need an aortic graft due to aortic root dilation.
Ehlers Danlos Syndrome is a combination of 13 genetically heterogenous types of ___ diseases.
collagen diseases with vascular involvement–median age of death is 48 years.
marfan syndrome investigations
Outline the beighton scoring scale of EDS clinical manifestations
assesses hypermobility and dislocations. points are allocated depending on how many joints are hypermobile.
most common clinical presentation in EDS.
- also, what skin features are noted in EDS?
most people are brought to the hospital due to hernias.
other clinical manifestations include piezogenic papules (fat herniations through fascia) and atrophic scarring, in addition to the stretchy fragile skin.
vascular complications of EDS
- medium arterial dissection and rupture
- GI rupture (sigmoid colon most common site)
- pregnancy-related uterine rupture
- carotid cavernous fistula.
caracterize the clinical presentations of Classic EDS, vEDS, and hEDS
investigations of EDS
Regular labs
• CBC, Cre, Lytes, liver enzymes, assess for other
autoimmune diseases (ANA, CCP, RF)
• Annual ophthalmology exam
- First screening Echo for all EDS
- If normal q5years
• CTA or MRA if abnormalities or high suspicion • Medical genetics referral for Collagen gene testing and counselling (except hypermobile EDS)
EDS treatment
- education to prevent damage or CVS complications
- life style (refined low impact exercise programs, no gymnastics)
- physiotherapy to train joint proprioception
- occupational therapy for improved QOL and function
- orthotic bracing for dislocations
- pain management (FIBROMYALGIA management)
- joint arthroplasty for early oA
If vascular EDS: need surgical intervention for any vascular bleeding, beta blockers and ARB to control HTN, as well as desmopressin.
outline the genetics behind achondroplasia
- single gene mutation (autosomal dominant) or the FGFR3 (fibroblast growth factor receptor 3 gene)
achondroplasia is due to ___ dysplasia
physeal dysplasia; abnormal growth of physis
achondroplasia pathophysiology
the mutation of the FGFR3 gene impacts Snail STAT and PP transcription factors, resulting in prevention of chondrocyte proliferation and differentiation
main causes of premature death in someone with achondroplasia
spinal cord compression and complications, and heart disease.
key pathognomonic ocular indication of marfan syndrome
ectopia lentis– diagnostic criteria, entire lens falls off to the bottom of the eye
