Sunday, May 23, 2021

Ehler-Danlos Syndrome (EDS) - High yield only

Hi! So let's learn EDS together. I've tabled a list of high-yield points of all the types of EDS. It requires little bit of revision but once you get a pictorial familiarity you should be able to recall them all. 

Have fun!

So, how to remember?

Step 1. Divide the table into 2 halves. Sl no. 1,2,3 have in common a lot of features:
  • They are all Autosomal Dominant. 
  • They have common Clinical features - skin HYPERelasticity, joint HYPERmobility and HYPER (easy) bruising. 
  • Go serially, Classical has the first 2, Type I and II and HYPERmobile is III and lastly Vascular is type I
  • Vascular type has additionally - arterial & uterine rupture.
Step 2. Now the second section Sl no. 4,5,6
  • EDS types with enzyme defects are Autosomal Recessive. So, 4 and 6 are AR. 
  • Kyphoscoliotic EDS is Type VI (K rearranged is a V and I)
  • For the last 2, mnemonic is ABCD😛 Arthrochalasia VII a, b and VII c is Dermatosparaxis.
  • KyphoSCOLIOTIC EDS - defective lysyl hydroxylase (=> abnormal cross linking of collagen or KOLLAGEN => think of bones ðŸĶī => congenital SCOLIOSIS)
  • ARTHROchalasia is COL IA (1st letter is A) and hence presents with severe JOINT hyper mobility.
  • DERMATospARaxis is AR and a defective Procollagen-N-peptidase and presents with CUTIS laxa. (Cuties are Pros ;)

Step 2. For the Gene types, come down in descending order: 5 4 3 2 1


Step 3. Remember Type V - DOEST NOT EXIST. 

Step 4. Revise again 😉

That's it! Stay safe ðŸŒļ
- Anagha :)

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