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.
The Tel Hashomer for diagnosing familial Mediterranean fever :
| Major criteria |
| 1. Recurrent episodes of fever plus serositis |
| 2. AA type of amyloidosis without predisposing disease |
| 3. Response to colchicine |
| Minor criteria |
|---|
| 1. Recurrent febrile attacks |
| 2. Erysipelas-like erythema |
| 3. Family history in first-degree relatives |
- The definitive diagnosis requires at least two major criteria or one major plus two minor criteria.[1]
The Livneh criteria for diagnosing familial Mediterranean fever
| Major criteria |
| Typical attacks (recurrent (≥3 of the same type), febrile rectal temperature ≥38 °C lasting 12 h and 3 days) |
| Peritonitis (generalized) |
| Pleuritis (unilateral) or pericarditis |
| Monoarthritis (hip, knee, ankle) |
| Fever alone |
| Minor criteria |
|---|
| Incomplete attacks involving one or more of the following sites (1–3) |
| Painful/recurrent attacks that differ from typical attacks in one or two features: (a) the temperature is normal or lower than 38 °C; (b) the attacks are longer or shorter than specified (but not shorter than 6 h or longer than a week);(c) no signs of peritonitis are recorded during the abdominal attacks; (d) the abdominal attacks are localized; and (e) the arthritis is in joints other than those specified |
| 1.Abdomen |
| 2.Chest |
| 3.Joint |
| 4.Exertional leg pain |
| 5. Favorable response to colchicine |
| Supportive criteria |
| 1. Family history of FMF |
| 2. Appropriate ethnic origin |
| 3. Age <20 years at disease onset |
| Features of attack (4–7) |
| 4. Severe requiring bed rest |
| 5. Spontaneous remission |
| 6. Symptom-free interval |
| 7. Transient inflammatory response with one or more test result(s) for white blood cell count, ESR, SAA, and/or fibrinogen |
| 8. Episodic proteinuria/hematuria |
| 9. Unproductive laparatomy or removal of white appendix |
| 10. Consanguinity of parents |
The diagnosis of FMF is made in case of
- At least one major criterion
- At least two minor criteria
- ≥1 minor criterion plus ≥5 supportive criteria
- ≥1 minor criterion plus ≥4 of the five supportive criteria
The criteria for diagnosing familial Mediterranean fever in children
- Also known as Turkish criteria:[2]
| Criteria | Description |
| Fever | Axillary temperature of >38 °C, 6–72 h of duration, ≥3 attacks |
| Abdominal pain | 6–72 h of duration, ≥3 attacks |
| Chest pain | 6–72 h of duration, ≥3 attacks |
| Arthritis | 6–72 h of duration, ≥3 attacks, oligoarthritis |
| Family history of FMF |
- The definitive diagnosis requires at least two criteria[3]
The comparison of various diagnostic studies for familial Mediterranean fever in children
| Test | Sensitivity | Specificity |
|---|---|---|
| Tel Hashomer criteria | 45% | 97.2% |
| Livneh criteria | 77.3% | 41.1% |
| Turkish criteria | 87.4% | 40.7% |
Genetic analysis
Genetic analysis is recommended according to the following algorithm: [4]
| An individual with unexplained fever + High CRP | Those who meet diagnostic criteria (Attack duration <3 days) | ||||||||||||||||||||||
| Ask for accompanying features: 1.Any skin rash other than erysipelas-like erythema 2.Oral ulcers, psoriasis, panniculitis 3.Exudative pharyngitis during attacks | |||||||||||||||||||||||
| None of the above | |||||||||||||||||||||||
| MEFV gene analysis recommended | |||||||||||||||||||||||
| The above algorithm adopted from Nature review rheumatology. |
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: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.
- ↑ Yalçınkaya, Fatoş; Özen, Seza; Özçakar, Zeynep Birsin; Aktay, Nuray; Çakar, Nilgün; Düzova, Ali; Kasapçopur, Özgür; Elhan, Atilla H.; Doğanay, Beyza; Ekim, Mesiha; Kara, Nazlı; Uncu, Nermin; Bakkaloğlu, Ayşin (2009). "A new set of criteria for the diagnosis of familial Mediterranean fever in childhood". Rheumatology. 48 (4): 395–398. doi:10.1093/rheumatology/ken509. ISSN 1462-0332.
- ↑ Demirkaya, Erkan; Saglam, Celal; Turker, Turker; Koné-Paut, Isabelle; Woo, Pat; Doglio, Matteo; Amaryan, Gayane; Frenkel, Joost; Uziel, Yosef; Insalaco, Antonella; Cantarini, Luca; Hofer, Michael; Boiu, Sorina; Duzova, Ali; Modesto, Consuelo; Bryant, Annette; Rigante, Donato; Papadopoulou-Alataki, Efimia; Guillaume-Czitrom, Severine; Kuemmerle-Deschner, Jasmine; Neven, Bénédicte; Lachmann, Helen; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco; Ozen, Seza (2016). "Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry". The Journal of Rheumatology. 43 (1): 154–160. doi:10.3899/jrheum.141249. ISSN 0315-162X.
- ↑ Ozen S, Bilginer Y (March 2014). "A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin". Nat Rev Rheumatol. 10 (3): 135–47. doi:10.1038/nrrheum.2013.174. PMID 24247370.