Case Challenge #3 presented a 19 year old white male is admitted with acute onset fever and abdominal pain. He was noted to have multiple recurrences over last 10 years, with each episode resolving in 3-4 days. On exam, he had a fever of 102.2F and peritoneal signs on exam. Labs revealed WBC 17k and a normal CTAP.
Which test is most likely to provide the diagnosis?
A) Measurement of C4 and C1 inhibitor levels
B) ANA and ENA panel
C) Colonoscopy with random biopsies
D) 24 hour urine collection for urine porphyrins
E) MEFV gene sequencing
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The diagnosis is Familial Mediterranean Fever, and the MEFV gene sequencing is most likely to provide the diagnosis.
- Autosomal recessive disorder marked by episodic febrile attacks with serositis (peritonitis, pleuritis, arthritis)
- Mutations in MEFV gene leading to ineffective pyrin regulation of inflammation
- Ethnic predisposition: Armenians, Sephardic and Ashkenazi Jews, Turks, Greeks, N. Africans
- Rx: Colchicine
Look forward to a more extensive review on Familial Mediterranean Fever!