Connective Tissue Disorders

Question 1

what is the overall prevalence of EDS?

Answer 1

1:5,000

Question 2

what are general features of EDS?

Answer 2

joint laxity, hyperextensibility of skin, poor wound healing, soft and velvety skin, easy bruising

Question 3

Classic EDS is types: _________. inheritance? features?

Answer 3

I and II

AD

soft and hyperextensible skin, easy bruising, thin atrophic scar, hypermobile joints, varicose veins, prematurity of affected newborns

Question 4

what type of EDS is hypermobile? inheritance? features?

Answer 4

Type III

hyperex of small and large joints
soft velvety skin
normal scarring

Question 5

what is Type IV EDS called? inheritance? what is true of it? features?

most concern?

gene?

Answer 5

vascular type, AD, most severe for of EDS

thin translucent skin with visible veins, easy brusing, absence of skin and joint hypermobility

rupture of arterial, bowel, and uterine

COL3A1 (abn type III collagen synthesis, secretion, or structure)

Question 6

other features seen with vascular EDS?

Answer 6

significant medical complication by age 20y
12% of neonates have clubfoot
3% congenital dislocation of the hip
inguinal hernias
70% of adults have vascular complications
25% have GI complications

Question 7

what is the dx criteria for Marfan syndrome called?

Answer 7

Ghent

Question 8

what are some of the disorders similar to Marfan syndrome?

Answer 8

Homocystinuria, MASS phenotype, Loeys-Dietz, Stickler syndrome, Congenital contractural arachnodactyly, EDS

Question 9

what are the major MSK findings in Marfan syndrome?

Answer 9

severe pectus carinatum or excavatum
arm span/height ration >1.05 or decrease upper/lower segment ration 
wrist and thumb signs
>20 degree scoliosis
<170 degree motion in elbows
pes planus

Question 10

described the thumb and wrist sign in Marfan syndrome?

Answer 10

thumb: close fingers over thumb and thumb reaches a certain point

overlap thumb and pinky when wrapped around wrist

Question 11

what are the major cardio features of Marfan syndrome? major ocular finding?

Answer 11

aortic root dilation or dissection

lens dislocation

Question 12

Marfan syndrome caused by mutations in what gene? issues with looking for variants?

Answer 12

FBN1

large size, presence of normal allele, dominant-negative effect, 25-30% de novo rate, no clear geno/phenotype correlations

only about 12% of mutations are recurring

Question 13

how should we manage the skeletal features of Marfan syndrome? heart?

Answer 13

annual eval, scoliosis tends to worsen around puberty, surgical correction of pectus deformities, feet support, loose joints

regular follow up and echo
prevent endocarditis
medical therapy (Beta blockers)
limit activity
surgical management

Question 14

what form of Marfan should be suspected in a baby with CHD and contractures? features?

unique etiology?

Answer 14

neonatal

severe form, 80% have severe cardiac defects, 84% have contractures, 14% die in 1st YOL

typically mutations are grouped in exons 23-32 - neonatal region of FBN1

Question 15

some differences btwn Homocystinuria and Marfan syndrome?

Answer 15

lens dislocation typically occurs b4 age 10y
light pigmentation hair and skin
marfanoid appearance bur true arachnodactyly is rare
DD common (greater than Marfan)
increased risk of thromboembolism and occurrence of osteoporosis
**can test for homocysteine levels in blood
responsive to pyridoxine