Autoinflammatory

Question 1

Name a rare monogenic autoinflammatory disease

Answer 1

Familial mediterranean fever

Question 2

Pathophysiology of FMF

Answer 2

MEFV gene mutation, autosomal recessive
Gene produces pyrin-marenostrin which is expressed in neutrophils/recruits neutrophils
In FMF, there is a failure to regulate CRYoPYRIN-driven activation of neutrophils

Question 3

Symptoms of FMF

Answer 3

Swinging fevers lasting 2-4 days

Pyrin/marenostrin results in neutrophils being recruited to serous and synovial membranes, resulting in abdo pain (peritonitis), chest pain (pericarditis, pleurisy), arthritis and rash

Can also lead to nephrotic syndrome oedema

Question 4

Why do you get nephrotic syndrome in FMF?

Answer 4

Liver produces serum amyloid A as an acute phase protein, which builds up and deposits in kidneys, liver and spleen

Question 5

Mx of FMF

Answer 5

Colchicine - binds to tubulin in neutrophils and disrupts neutrophil functions
Anakinra - IL 1 receptor antagonist
Etanercept - TNFalpha inhib