Familial Mediterranean fever diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
Familial Mediterranean fever is primarily diagnosed based on the clinical presentation.
Diagnostic Study of Choice
Study of choice
Familial Mediterranean fever is primarily diagnosed based on the clinical presentation. There are two sets of criteria for the diagnosis of this disorder in adults, including:[1]
- Tel Hashomer criteria, which is used widely
- Livneh criteria, which is developed recently.
There is another set of criteria for the diagnosis of FMF in children. Since FMF occurs due to a mutation in MEFV gene, genetic analysis is also available for the diagnosis. However, it would not be cost-effective.
- Genetic analysis is recommended according to the following algorithm.[2]
The comparison of various diagnostic studies for familial Mediterranean fever
| Test | Sensitivity | Specificity |
|---|---|---|
| Tel Hashomer criteria | ...% | ...% |
| Livneh criteria | ...% | ...% |
[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity
The Tel Hashomer for diagnosing familial Mediterranean fever
| Type | Criteria |
|---|---|
| Major | I. Recurrent episodes of fever plus serositis
II. AA type of amyloidosis without predisposing disease III. Response to colchicine |
| Minor | I. Recurrent febrile attacks
II. Erysipelas-like erythema III. Family history in first-degree relatives |
The definitive diagnosis requires at least two major criteria or one major plus two minor criteria.
The Livneh criteria for diagnosing familial Mediterranean fever[1]
| Type | Criteria |
|---|---|
| Major | Typical attacks (1-4)
1- Generalised peritonitis 2- Unilateral pleuritis or pericarditis 3- Monoarthritis (hip, knee, ankle) 4- Fever alone 5- Incomplete abdominal attack |
| Minor | Incomplete attacks involving either or both
of the following sites 1- Chest 2- Joint 3- Exertional leg pain 4- Favorable response to colchicine |
The diagnosis of FMF is made when at least one major criterion, or at least two minor criteria, or ≥1 minor criterion plus ≥5 supportive criteria, or ≥1 minor criterion plus ≥4 of the five supportive criteria are present.
References
- ↑ 1.0 1.1 Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (October 1997). "Criteria for the diagnosis of familial Mediterranean fever". Arthritis Rheum. 40 (10): 1879–85. doi:10.1002/1529-0131(199710)40:10<1879::AID-ART23>3.0.CO;2-M. PMID 9336425.
- ↑ Ozen, Seza; Bilginer, Yelda (2013). "A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin". Nature Reviews Rheumatology. 10 (3): 135–147. doi:10.1038/nrrheum.2013.174. ISSN 1759-4790.