Thursday, January 10, 2013


A patient comes to your genetics clinic with a very rare autosomal dominant disease with incomplete penetrance. The patient's onset of symptoms was at 3 years. He has recurrent fevers without evidence of any viral or bacterial infection. The fevers are not cyclical, last five days to two weeks, and have no discernible trigger. Over time, the patient realizes that the attacks are accompanied by focal migratory myalgias, conjunctivitis, periorbital edema, abdominal pain, a monoarticular arthritis, and an erythematous patchy rash that spreads distally down an extremity over time. ESR and CRP spike during these attacks but remain modestly elevated during asymptomatic periods. RF and ANA are negative. You refer the patient to nephrology because 15% of patients develop secondary amyloidosis.

Challenge: What's the diagnosis?

Image shown under Creative Commons Attribution Share-Alike License.


Reflex Hammer said...

Familial Mediterranean fever

Abdillahi said...


Craig Chen said...

this one's a tough one - nice job Abdillahi!

This is TRAPS, also known as tumor necrosis factor receptor-1 associated periodic syndrome. The image shows TNF-alpha.

Sources: UpToDate; Wikipedia.