Thursday, January 29, 2015

Study group discussion: Marfans syndrome

Today I learned that if someone has Marfans disease and they complain of a "tearing" feeling in their chest, they are probably having an aortic dissection and need surgery quick. Our patient made it to the hospital alive, but apparently it's commonly fatal.

Aortic dissection presents with pain radiating to the back. The radiation of pain hint is given in many multiple choice questions.

Marfan syndrome patient tend to have weak or bad joint... But how could they hyperextend their finger?

Because they have a defect in fibrillin synthesis. Synthesis of any structure with fibrillin is affected.

Good to know! I'll keep that in mind.

Fibrillin will form elastic connective tissue right?

Ohhh cool! Didn't know the association!

Fibrillin is a component of lots of types of connective tissue, I guess.

Yep

Mini mnemonic on Marfan: Marfan - Fibrillin - Marfibrillin (Merging words to remember!)

Marfan is associated wth ectopic lentis, right?

Yes, Marfans is associated with ectopia lentis. Another condition associated with ectopia lentis is homocystinuria.

What's ectopia lentis?

Displacement of the eye's lens.

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