FMF

Question 1

A 18-years old man presented with a 3- day history of fever, diffuse abdominal and chest pain. These symptoms have occurred several times over several years and his past medical history included exploratory laparotomy 2 years ago, he was no drug history and history of travelling to Turkey 6 weeks ago. On examination temperature was 38.5°C and there were signs of peritonitis with normal ultrasound and plain erect X ray.
a)

Answer 1

What is the most likely diagnosis of this case?
FMF
ليه؟
Young man with recurrent fever and serositis (manifesting as diffuse abdominal and chest pain).

Signs of peritonitis, but normal imaging (ultrasound and X-ray), which is typical in FMF attacks.

History of travel to Turkey—FMF is common in individuals of Mediterranean origin (including Turks, Arabs, Armenians, and Sephardic Jews).

Prior exploratory laparotomy suggests past misdiagnosis of an acute abdomen (a common scenario in FMF).

Question 2

b) What is the most important investigation?

Answer 2

Genetic testing for MEFV gene mutations

Confirms diagnosis of FMF.

Elevated serum amyloid A (SAA) during attacks can also support the diagnosis.

ESR and CRP may be elevated during attacks, but they are nonspecific.

Question 3

c) What is the treatment of Choice in this case?

Answer 3

Colchicine tab
*Adults: up to 3mg up to 6 tablets 0.5mg.
* Children: up to 2mg up to 4 tablets 0.5mg.

Question 4

Diagnostic criteria of FMF

Answer 4

Tel Hashomer Criteria

Major Criteria: RAF

1. Recurrent febrile episodes with serositis (peritonitis, pleuritis, or synovitis)
2. Amyloidosis of AA type without predisposing disease
3. Favorable response to continuous colchicine treatment
   Minor Criteria:(REF)
4. Recurrent febrile episodes
5. Erysipelas-like erythema
6. FMF in a first-degree relative
   *Definite FMF: 2 major criteria, or 1 major + 2 minor
   *Probable FMF: 1 major + 1 minor