Ehlers Danlos syndrome [25/02/20]

Question 1

Which defective type of synthesis in EDS?

Answer 1

collagen

Question 2

where is collagen found?

Answer 2

Skin, ligaments, bones

Question 3

Cells produce collagen

Answer 3

Fibroblasts

Question 4

Type 1 collagen

Answer 4

Skin, tendons, organs, bones

Question 5

Type 2

Answer 5

cartilage

Question 6

Type 3 collagen

Answer 6

reticular fibres -> soft organs

Question 7

Type 4

Answer 7

basal laminar; epithelial cells sit

Question 8

type 5

Answer 8

cell surfaces, hair, placenta [as well as places type 1 is found]

Question 9

Synthesis of collagen genes

Answer 9

COL1A1, COL3A1, COL5A1, COL5A2

Question 10

Cause of EDS

Answer 10

Genetic mutation

Question 11

Classical EDS mutaion, type of inheritance

Answer 11

mutations in COLSA1, and COL5A2 -> autosomal dominant

Question 12

Vascular EDS inheritance

Answer 12

Mutation in COL3A1 -> type 3 collagen synthesis -> weakens blood vessels

Question 13

Classical-like EDS [clEDS]

Answer 13

Mutation in TNXB -> defect in tenascin-X -> role regulating production and assembly of certain types of collagen; flexibility

Question 14

Sometimes, EDS not caused by mutation in gene coding for collagen, by a gene in an enzyme that assists in synthesis of collagen. Give an example

Answer 14

• Kyphoscoliotic ehlers-danlos [kEDS] -> insufficient lysyl hydroxylase [enzyme for hydroxylation]

Question 15

Sometimes, EDS not caused by mutation in collagen. Caused by defect in collagen peptidases -> proteolytic processing

Answer 15

• musculocontractural ehlers-danlos [mcEDS]

Question 16

clEDS, kEDS and mcEDS inheritance

Answer 16

Autosomal recessive inheritance

Question 17

90% of people have what type of EDS. What genetic mutation has been identified?

Answer 17

Hypermobile EDS. And none!

Question 18

Sx of EDS

Answer 18

Areas rely heavily on collagen like skin and joints; easy bruising, fragile skin, overly flexible joints etc.

Question 19

Dx

Answer 19

Spotting characteristic Sx, examining joints and skin, DNA studies that identify mutation

Question 20

Tx

Answer 20

supportive care, physio, bracing, casting etc.