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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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== Overview ==
== Overview ==
[[Familial Mediterranean fever]] is primarily diagnosed based on the clinical presentation.
[[Familial Mediterranean fever]] is primarily [[Diagnosis|diagnosed]] based on the clinical presentation.


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==
=== 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:<ref name="pmid9336425">{{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=Arthritis Rheum. |volume=40 |issue=10 |pages=1879–85 |date=October 1997 |pmid=9336425 |doi=10.1002/1529-0131(199710)40:10<1879::AID-ART23>3.0.CO;2-M |url=}}</ref>
*[[Familial Mediterranean fever]] is primarily [[Diagnose|diagnosed]] based on the clinical presentation. There are two sets of criteria for the diagnosis of this disorder in adults, including:<ref name="pmid9336425">{{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=Arthritis Rheum. |volume=40 |issue=10 |pages=1879–85 |date=October 1997 |pmid=9336425 |doi=10.1002/1529-0131(199710)40:10<1879::AID-ART23>3.0.CO;2-M |url=}}</ref>
*Tel Hashomer criteria, which is used widely
**Tel Hashomer criteria, which is used widely
* Livneh criteria, which is developed recently.
** Livneh criteria, which is developed recently.
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.
 
*Genetic analysis is recommended according to the following algorithm.<ref name="OzenBilginer2013">{{cite journal|last1=Ozen|first1=Seza|last2=Bilginer|first2=Yelda|title=A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin|journal=Nature Reviews Rheumatology|volume=10|issue=3|year=2013|pages=135–147|issn=1759-4790|doi=10.1038/nrrheum.2013.174}}</ref>
* 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 comparison of various diagnostic studies for familial Mediterranean fever====
 
{|
'''The Tel Hashomer for [[Diagnosis|diagnosing]] [[Familial mediterranean fever|familial Mediterranean fever]]''' :
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
{| class="wikitable"
! 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
| align="center" style="background: #4479BA; color: #FFFFFF |'''Major criteria'''
|-
|1. Recurrent episodes of [[fever]] plus [[serositis]]
|-
|2. AA type of [[amyloidosis]] without predisposing [[disease]]
|-
|3. Response to [[colchicine]]
|-
|+
! style="background: #4479BA; color: #FFFFFF |'''Minor criteria'''
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Tel Hashomer criteria
|1. Recurrent febrile attacks
| 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
|2. [[Erysipelas]]-like [[erythema]]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
==== The Tel Hashomer for diagnosing familial Mediterranean fever====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Type
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Criteria
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Major
|3. Family history in first-degree relatives
| style="background: #DCDCDC; padding: 5px; text-align: left;" |I. Recurrent episodes of fever plus serositis
 
II. AA type of amyloidosis without predisposing disease
 
III. Response to colchicine
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Minor
|}
| style="background: #DCDCDC; padding: 5px; text-align: left;" |I. Recurrent febrile attacks
* The definitive [[diagnosis]] requires at least two major criteria or one major plus two minor criteria.<ref name="pmid9336425" />
 
II. Erysipelas-like erythema


III. Family history in first-degree relatives
==== The Livneh criteria for diagnosing [[Familial mediterranean fever|familial Mediterranean fever]]====
|}
The definitive diagnosis requires at least two major criteria or one major plus two minor criteria.
==== The Livneh criteria for diagnosing familial Mediterranean fever<ref name="pmid9336425">{{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=Arthritis Rheum. |volume=40 |issue=10 |pages=1879–85 |date=October 1997 |pmid=9336425 |doi=10.1002/1529-0131(199710)40:10<1879::AID-ART23>3.0.CO;2-M |url=}}</ref>====
{| class="wikitable"
{| class="wikitable"
|+
|+
|-
|-
| align="center" style="background:#f0f0f0;" |'''Major criteria'''
| align="center" style="background: #4479BA; color: #FFFFFF |'''Major criteria'''
|-
|-
|Typical attacks (recurrent (≥3 of the same type), febrile rectal temperature ≥38 °C lasting 12 h and 3 days)
|Typical attacks (recurrent (≥3 of the same type), febrile rectal temperature ≥38 °C lasting 12 h and 3 days)
|-
|-
|Peritonitis (generalized)
|[[Peritonitis]] (generalized)
|-
|-
|Pleuritis (unilateral) or pericarditis
|[[Pleuritis]] ([[unilateral]]) or [[pericarditis]]
|-
|-
|Monoarthritis (hip, knee, ankle)
|[[Monoarthritis]] (hip, knee, ankle)
|-
|-
|Fever alone
|[[Fever]] alone
|-
|-
|+
|+
!Minor criteria
! style="background: #4479BA; color: #FFFFFF |'''Minor criteria'''
|-
|-
|Incomplete attacks involving one or more of the following sites (1–3)
|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 specifi ed (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 specifi ed
|[[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
|1.Abdomen
Line 79: Line 67:
|3.Joint
|3.Joint
|-
|-
|4.Exertional leg pain
|4.Exertional [[leg pain]]
|-
|-
|5. Favorable response to colchicine
|5. Favorable response to [[colchicine]]
|-
|-
|+
|+
!Supportive criteria
! style="background: #4479BA; color: #FFFFFF |'''Supportive criteria'''
|-
|-
|1. Family history of FMF
|1. [[Family history]] of [[FMF]]
|-
|-
|2. Appropriate ethnic origin
|2. Appropriate ethnic origin
|-
|-
|3. Age <20 years at disease onset
|3. Age <20 years at [[disease]] onset
|-
|-
|Features of attack (4–7)
|Features of attack (4–7)
Line 98: Line 86:
|5. Spontaneous remission
|5. Spontaneous remission
|-
|-
|6. Symptom-free interval
|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
|7. Transient [[inflammatory]] response with one or more test result(s) for [[white blood cell count]], [[ESR]], [[SAA2|SAA]], and/or [[fibrinogen]]
|-
|-
|8. Episodic proteinuria/hematuria
|8. Episodic [[proteinuria]]/[[hematuria]]
|-
|-
|9. Unproductive laparatomy or removal of white appendix
|9. Unproductive laparatomy or removal of white appendix
Line 109: Line 97:
|-
|-
|}
|}
The diagnosis of FMF is made if 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
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 [[Diagnosis|diagnosing]] [[Familial mediterranean fever|familial Mediterranean fever]] in children ====
*Also known as Turkish criteria:<ref name="YalçınkayaÖzen2009">{{cite journal|last1=Yalçınkaya|first1=Fatoş|last2=Özen|first2=Seza|last3=Özçakar|first3=Zeynep Birsin|last4=Aktay|first4=Nuray|last5=Çakar|first5=Nilgün|last6=Düzova|first6=Ali|last7=Kasapçopur|first7=Özgür|last8=Elhan|first8=Atilla H.|last9=Doğanay|first9=Beyza|last10=Ekim|first10=Mesiha|last11=Kara|first11=Nazlı|last12=Uncu|first12=Nermin|last13=Bakkaloğlu|first13=Ayşin|title=A new set of criteria for the diagnosis of familial Mediterranean fever in childhood|journal=Rheumatology|volume=48|issue=4|year=2009|pages=395–398|issn=1462-0332|doi=10.1093/rheumatology/ken509}}</ref>
{| class="wikitable"
|+
|-
| align="center"  style="background: #4479BA; color: #FFFFFF |'''Criteria'''
| style="background: #4479BA; color: #FFFFFF |'''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<ref name="DemirkayaSaglam2016">{{cite journal|last1=Demirkaya|first1=Erkan|last2=Saglam|first2=Celal|last3=Turker|first3=Turker|last4=Koné-Paut|first4=Isabelle|last5=Woo|first5=Pat|last6=Doglio|first6=Matteo|last7=Amaryan|first7=Gayane|last8=Frenkel|first8=Joost|last9=Uziel|first9=Yosef|last10=Insalaco|first10=Antonella|last11=Cantarini|first11=Luca|last12=Hofer|first12=Michael|last13=Boiu|first13=Sorina|last14=Duzova|first14=Ali|last15=Modesto|first15=Consuelo|last16=Bryant|first16=Annette|last17=Rigante|first17=Donato|last18=Papadopoulou-Alataki|first18=Efimia|last19=Guillaume-Czitrom|first19=Severine|last20=Kuemmerle-Deschner|first20=Jasmine|last21=Neven|first21=Bénédicte|last22=Lachmann|first22=Helen|last23=Martini|first23=Alberto|last24=Ruperto|first24=Nicolino|last25=Gattorno|first25=Marco|last26=Ozen|first26=Seza|title=Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry|journal=The Journal of Rheumatology|volume=43|issue=1|year=2016|pages=154–160|issn=0315-162X|doi=10.3899/jrheum.141249}}</ref>
 
==== The comparison of various [[diagnostic]] studies for [[Familial mediterranean fever|familial Mediterranean fever]] in children ====
{|
|- 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;" |45%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |97.2%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Livneh criteria
| style="background: #DCDCDC; padding: 5px; text-align: center;" |77.3%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |41.1%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Turkish criteria
| style="background: #DCDCDC; padding: 5px; text-align: center;" |87.4%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |40.7%
|-
|}
 
==Genetic analysis==
[[Genetic analysis]] is recommended according to the following algorithm: <ref name="pmid24247370">{{cite journal |vauthors=Ozen S, Bilginer Y |title=A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin |journal=Nat Rev Rheumatol |volume=10 |issue=3 |pages=135–47 |date=March 2014 |pmid=24247370 |doi=10.1038/nrrheum.2013.174 |url=}}</ref>
 
{{familytree/start |summary}}
{{familytree | | | B01 | | B02 | | |B01=An individual with '''unexplained [[fever]] + High [[CRP]]'''|B02=Those who '''meet [[diagnostic criteria]]'''<br>(Attack duration <3 days)}}
{{familytree | | | |!| | | |!| | | | }}
{{familytree | | | |`| E04 |'| |E04='''Ask for accompanying features:'''<br>1.Any skin rash other than [[erysipelas]]-like [[erythema]]<br>2.Oral ulcers, [[psoriasis]], panniculitis<br>3.Exudative [[pharyngitis]] during attacks}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | E05 | | |E05=None of the above}}
{{familytree | | | | | |!| | | | }}
{{familytree | | | | | E05 | | |E05='''[[MEFV]] [[gene]] analysis recommended'''}}
{|
! style="background:#DCDCDC;" align="center" + |The above algorithm adopted from Nature review rheumatology.
!
|}


==References==
==:References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 19:40, 31 October 2019

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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.

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.

:References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
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