Connective Tissue Disorders Flashcards
What are the criteria for the Beighton scale?
One point each side for:
1. Thumb to forearm
2. 5th digit at or past 90
3. Elbow hyperextension >10
4. Knee hyperextension >10
One point for hands flat on floor without bending knees
6 or more required for prepubertal patients
5 or more pubertal and above
What genes cause Classic I & II Ehlers Danlos Syndrome?
COL5A1 and COL5A2
(90% attributable to these genes)
What is the phenotype of Classic I & II Ehlers Danlos Syndrome?
Loose joints
Papery scars
Stretchy and fragile skin
Hypotrophic scars
Low tone
Easy bruising
Arterial dilatation (celiac trunk, abdominal aneurysms)
Constipation, megacolon
What gene causes Vascular (IV) Ehlers Danlos Syndrome?
COL3A1
What is the major criterial for Vascular (IV) Ehlers Danlos Syndrome?
Family hx of vEDS with causative variant (50% w/no family hx)
Arterial rupture at a young age
Spontaneous sigmoid colon perforation
Uterine rupture during the 3rd trimester in the absence of previous C-section
Carotid-cavernouse sinus fistula (CCSF) formation in the absence of trauma
Genetic testing
What is the phenotype of Hypermobile (III) Ehlers Danlos Syndrome?
Loose joints
Mild skin findings
Pain and disability
What gives collagen its spiral characteristic?
Glycine triplet repeat (Gly-Xaa-Yaa)
Substitutions of Glycine at this position are generally pathogenic.
What are the eight common problems in hEDS?
- Chronic pain and joint dislocations
- Temporomandibular joint dysfunction
- Autonomic dysfunction (presyncope, postural orthostatic tachycardia)
- Gastrointestinal dysfunction
- Chronic headaches
-Tension-type and migraines - Anxiety and panic disorder
- Sleeping difficulty chronic fatigue
- Bruising and bleeding*
What is the definition of Postural Orthostatic Tachycardia Syndrome?
- HR increases by 30 bpm or more, with minimal drop in blood pressure
What is the treatment of dysautonomia?
- Aerobic exercise
- 30 minutes a day, 5 days a week, 80% max target heart rate
-(Levine protocol for POTS)
-Has been shown to be as effective as beta blockers in controlling
symptoms
-Improves baroreceptor parameters– including improved resistance
-Increases blood volume - After 3 months:
-Improved physiology
-Increased quality of life
-Exercise has been shown to improve sleep, anxiety, IBS, pain
What are the findings in Marfan syndrome?
- Tall stature with disproportionate elongation of the limbs
- Lens dislocations (60%), nearsighted
- Retinal detachment
- Pectus anomalies, scoliosis
- Connective tissue laxity
- Aortic root dilatation leading to dissection
What gene causes Marfan syndrome?
FBN1 (Fibrillin-1)
What is the management of Marfan syndrome?
- Yearly echocardiograms
- Yearly eye examinations for retinal detachment
- Orthopedic management
- Losartan and/or beta blocker medication
- Teaching regarding signs/symptoms of aortic dissection and retinal detachment
What is the phenotype of Loeys Dietz Syndrome?
- Vascular findings: Aneurysms in any blood vessel. Aortic root dilatation
- Pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, club foot, cervical spine malformation and/or instability
- Widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures
- Velvety and translucent skin, easy bruising, and dystrophic scars
- Pregnancy-related complications including uterine rupture and death.
- Predisposition for allergic/inflammatory disorders
What genes cause Loeys Dietz syndrome?
Mutations in SMAD2,
SMAD3, TGFB2, TGFB3,
TGFBR1, or TGFBR2.
(Autosomal dominant)
