Familial Mediterranean Fever - Baumgarten Flashcards
1
Q
What is the etiology of FMF?
What are the most common mutations?
A
Mutated FMF- MEFV gene
MEFV encodes Pyrin, which is produced in neutrophils and other cells and downregulates inflammation, so when it is mutated there is increased inflammation
M694V is the most severe mutation, more amyloidosis
Others: V726A, E148Q, M680I, M694I, etc.
