Familial mediterranean fever diagnostic study of choice: Difference between revisions
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(/* The Livneh criteria for diagnosing familial Mediterranean fever{{cite journal |vauthors=Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M |title=Criteria for the diagnosis of familial Mediterranean fever |journal=Art...) |
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There is another set of criteria for the diagnosis of [[FMF]] in children. | 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. | 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 | ==== The Tel Hashomer for [[Diagnosis|diagnosing]] [[Familial mediterranean fever|familial Mediterranean fever]]==== | ||
{| | {| class="wikitable" | ||
|- | |+ | ||
|- | |||
| align="center" style="background:#f0f0f0;" |'''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 | |||
3. | |||
|- | |- | ||
|} | |} | ||
The definitive [[diagnosis]] requires at least two major criteria or one major plus two minor criteria. | The definitive [[diagnosis]] requires at least two major criteria or one major plus two minor criteria. | ||
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*≥1 minor criterion plus ≥5 supportive criteria | *≥1 minor criterion plus ≥5 supportive criteria | ||
*≥1 minor criterion plus ≥4 of the five supportive criteria | *≥1 minor criterion plus ≥4 of the five supportive criteria | ||
==== The comparison of various [[diagnostic]] studies for [[Familial mediterranean fever|familial Mediterranean fever]]==== | |||
{| | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity | |||
|- | |||
! style="background: #696969; color: #FFFFFF; text-align: center;" |Tel Hashomer criteria | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |% | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |% | |||
|- | |||
! style="background: #696969; color: #FFFFFF; text-align: center;" |Livneh criteria | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |% | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |% | |||
|} | |||
==Genetic analysis== | ==Genetic analysis== | ||
Revision as of 23:23, 4 June 2019
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Familial Mediterranean Fever Microchapters |
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Differentiating Familial Mediterranean Fever from other Diseases |
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Diagnosis |
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Treatment |
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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.
The Livneh criteria for diagnosing familial Mediterranean fever[1]
| 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 comparison of various diagnostic studies for familial Mediterranean fever
| Test | Sensitivity | Specificity |
|---|---|---|
| Tel Hashomer criteria | % | % |
| Livneh criteria | % | % |
Genetic analysis
Genetic analysis is recommended according to the following algorithm.
| 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 [2] |
|---|
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 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.