Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center
Until now, the diagnosis of familial Mediterranean fever (FMF) was based on validated subsets of clinical criteria, but recently new Eurofever/PRINTO classification criteria concerning genetic analyses were proposed. The study aimed to compare the performances of three validated diagnostic criteria...
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| Veröffentlicht in: | Rheumatology international 2020, Vol.40 (1), p.21-27 |
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| creator | Tanatar, Ayşe Sönmez, Hafize Emine Karadağ, Şerife Gül Çakmak, Figen Çakan, Mustafa Demir, Ferhat Sözeri, Betül Ayaz, Nuray Aktay |
| description | Until now, the diagnosis of familial Mediterranean fever (FMF) was based on validated subsets of clinical criteria, but recently new Eurofever/PRINTO classification criteria concerning genetic analyses were proposed. The study aimed to compare the performances of three validated diagnostic criteria (Tel-Hashomer, Livneh, pediatric criteria) and new Eurofever/PRINTO classification criteria. The medical charts of study and control groups were reviewed retrospectively. Patients were evaluated for three diagnostic criteria and new Eurofever/PRINTO classification criteria. Control group consists of patients with other autoinflammatory diseases. A total of 1291 patients were classified into three groups according to their mutations: group 1: 447 patients with homozygous mutations; group 2: 429 patients with compound heterozygous mutations; and group 3: 415 patients with one heterozygous mutation. Similar diagnostic utility was found according to Livneh criteria between groups. But, proportion of patients fulfilling Tel-Hashomer and pediatric criteria was higher in groups 1 and 2. According to Eurofever/PRINTO criteria, 98.2% of patients with homozygous mutations, 94.2% of patients with compound heterozygous mutations and 80.2% of patients with heterozygous mutations were classified as FMF. In control group, 99.2% of them fulfilled the Livneh criteria, 66.9% met the pediatric criteria and 0.8% satisfied the Tel-Hashomer criteria, while none of control patients met the Eurofever/PRINTO classification criteria. Performances of three validated diagnostic criteria and new Eurofever/PRINTO classification criteria for FMF were similar and provide high utility in diagnosing/classifying patients with homozygous and compound heterozygous mutations. However, both Eurofever/PRINTO classification criteria and Tel-Hashomer criteria had significantly lower performance in heterozygous patients. |
| doi_str_mv | 10.1007/s00296-019-04463-w |
| format | Article |
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The study aimed to compare the performances of three validated diagnostic criteria (Tel-Hashomer, Livneh, pediatric criteria) and new Eurofever/PRINTO classification criteria. The medical charts of study and control groups were reviewed retrospectively. Patients were evaluated for three diagnostic criteria and new Eurofever/PRINTO classification criteria. Control group consists of patients with other autoinflammatory diseases. A total of 1291 patients were classified into three groups according to their mutations: group 1: 447 patients with homozygous mutations; group 2: 429 patients with compound heterozygous mutations; and group 3: 415 patients with one heterozygous mutation. Similar diagnostic utility was found according to Livneh criteria between groups. But, proportion of patients fulfilling Tel-Hashomer and pediatric criteria was higher in groups 1 and 2. According to Eurofever/PRINTO criteria, 98.2% of patients with homozygous mutations, 94.2% of patients with compound heterozygous mutations and 80.2% of patients with heterozygous mutations were classified as FMF. In control group, 99.2% of them fulfilled the Livneh criteria, 66.9% met the pediatric criteria and 0.8% satisfied the Tel-Hashomer criteria, while none of control patients met the Eurofever/PRINTO classification criteria. Performances of three validated diagnostic criteria and new Eurofever/PRINTO classification criteria for FMF were similar and provide high utility in diagnosing/classifying patients with homozygous and compound heterozygous mutations. However, both Eurofever/PRINTO classification criteria and Tel-Hashomer criteria had significantly lower performance in heterozygous patients.</description><identifier>ISSN: 0172-8172</identifier><identifier>EISSN: 1437-160X</identifier><identifier>DOI: 10.1007/s00296-019-04463-w</identifier><identifier>PMID: 31646357</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adolescent ; Arthritis - physiopathology ; Case-Control Studies ; Casualties ; Chest Pain - physiopathology ; Child ; Child, Preschool ; Classification ; Classification Criteria ; Colchicine - therapeutic use ; Consanguinity ; Decades ; Drug Resistance ; Exons - genetics ; Familial Mediterranean Fever - classification ; Familial Mediterranean Fever - diagnosis ; Familial Mediterranean Fever - genetics ; Familial Mediterranean Fever - physiopathology ; Female ; Hereditary Autoinflammatory Diseases - classification ; Hereditary Autoinflammatory Diseases - diagnosis ; Heterozygote ; Homozygote ; Humans ; Male ; Medicine ; Medicine & Public Health ; Mutation ; Pediatrics ; Pyrin - genetics ; Reproducibility of Results ; Retrospective Studies ; Rheumatology ; Severity of Illness Index ; Tubulin Modulators - therapeutic use</subject><ispartof>Rheumatology international, 2020, Vol.40 (1), p.21-27</ispartof><rights>Springer-Verlag GmbH Germany, part of Springer Nature 2019</rights><rights>Rheumatology International is a copyright of Springer, (2019). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-17019d56926a26a530c2b016945417a2512c3613f1dd890090bbc4485c367f633</citedby><cites>FETCH-LOGICAL-c375t-17019d56926a26a530c2b016945417a2512c3613f1dd890090bbc4485c367f633</cites><orcidid>0000-0002-9186-3068 ; 0000-0001-9801-925X ; 0000-0002-3232-0055 ; 0000-0002-5079-5644 ; 0000-0003-3594-7387 ; 0000-0002-1386-4575 ; 0000-0002-1034-6406 ; 0000-0002-1667-2480</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00296-019-04463-w$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00296-019-04463-w$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31646357$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tanatar, Ayşe</creatorcontrib><creatorcontrib>Sönmez, Hafize Emine</creatorcontrib><creatorcontrib>Karadağ, Şerife Gül</creatorcontrib><creatorcontrib>Çakmak, Figen</creatorcontrib><creatorcontrib>Çakan, Mustafa</creatorcontrib><creatorcontrib>Demir, Ferhat</creatorcontrib><creatorcontrib>Sözeri, Betül</creatorcontrib><creatorcontrib>Ayaz, Nuray Aktay</creatorcontrib><title>Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center</title><title>Rheumatology international</title><addtitle>Rheumatol Int</addtitle><addtitle>Rheumatol Int</addtitle><description>Until now, the diagnosis of familial Mediterranean fever (FMF) was based on validated subsets of clinical criteria, but recently new Eurofever/PRINTO classification criteria concerning genetic analyses were proposed. The study aimed to compare the performances of three validated diagnostic criteria (Tel-Hashomer, Livneh, pediatric criteria) and new Eurofever/PRINTO classification criteria. The medical charts of study and control groups were reviewed retrospectively. Patients were evaluated for three diagnostic criteria and new Eurofever/PRINTO classification criteria. Control group consists of patients with other autoinflammatory diseases. A total of 1291 patients were classified into three groups according to their mutations: group 1: 447 patients with homozygous mutations; group 2: 429 patients with compound heterozygous mutations; and group 3: 415 patients with one heterozygous mutation. Similar diagnostic utility was found according to Livneh criteria between groups. But, proportion of patients fulfilling Tel-Hashomer and pediatric criteria was higher in groups 1 and 2. According to Eurofever/PRINTO criteria, 98.2% of patients with homozygous mutations, 94.2% of patients with compound heterozygous mutations and 80.2% of patients with heterozygous mutations were classified as FMF. In control group, 99.2% of them fulfilled the Livneh criteria, 66.9% met the pediatric criteria and 0.8% satisfied the Tel-Hashomer criteria, while none of control patients met the Eurofever/PRINTO classification criteria. Performances of three validated diagnostic criteria and new Eurofever/PRINTO classification criteria for FMF were similar and provide high utility in diagnosing/classifying patients with homozygous and compound heterozygous mutations. However, both Eurofever/PRINTO classification criteria and Tel-Hashomer criteria had significantly lower performance in heterozygous patients.</description><subject>Adolescent</subject><subject>Arthritis - physiopathology</subject><subject>Case-Control Studies</subject><subject>Casualties</subject><subject>Chest Pain - physiopathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Classification</subject><subject>Classification Criteria</subject><subject>Colchicine - therapeutic use</subject><subject>Consanguinity</subject><subject>Decades</subject><subject>Drug Resistance</subject><subject>Exons - genetics</subject><subject>Familial Mediterranean Fever - classification</subject><subject>Familial Mediterranean Fever - diagnosis</subject><subject>Familial Mediterranean Fever - genetics</subject><subject>Familial Mediterranean Fever - physiopathology</subject><subject>Female</subject><subject>Hereditary Autoinflammatory Diseases - classification</subject><subject>Hereditary Autoinflammatory Diseases - diagnosis</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Pediatrics</subject><subject>Pyrin - genetics</subject><subject>Reproducibility of Results</subject><subject>Retrospective Studies</subject><subject>Rheumatology</subject><subject>Severity of Illness Index</subject><subject>Tubulin Modulators - therapeutic use</subject><issn>0172-8172</issn><issn>1437-160X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9UdFOHCEUJaZGt9of6END0lepF5hhdh4bY6vJVk2zJn0jLHOpmBlmC7Nu-iH9315dq29NCITDOede7mHsvYRPEqA5LQCqNQJkK6CqjBbbPTaTlW6ENPDjDZuBbJSY03bI3pZyD3Q3Bg7YoZaG-HUzY39uMIcxDy555GPgS-zFhSt344D5hC_iQ8K7E77GLropR89d6njCLT_f5DHgA-bTm--XV8tr7ntXSgzRuymOifscJ8zRcTLnwQ2xj67n38iH4OwSusSf9Dwm7njG8Aj33GMiwjHbD64v-O75PGK3X86XZxdicf318uzzQnjd1JOQDf29q02rjKNVa_BqBdK0VV3JxqlaKq-N1EF23bwFaGG18lU1rwltgtH6iH3c-a7z-GuDZbL34yYnKmmV1krNaa4tsdSO5fNYCrVq1zkOLv-2EuxjEnaXhKVu7FMSdkuiD8_Wm9WA3Yvk3-iJoHeEQk_pJ-bX2v-x_QsUFZSJ</recordid><startdate>2020</startdate><enddate>2020</enddate><creator>Tanatar, Ayşe</creator><creator>Sönmez, Hafize Emine</creator><creator>Karadağ, Şerife Gül</creator><creator>Çakmak, Figen</creator><creator>Çakan, Mustafa</creator><creator>Demir, Ferhat</creator><creator>Sözeri, Betül</creator><creator>Ayaz, Nuray Aktay</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><orcidid>https://orcid.org/0000-0002-9186-3068</orcidid><orcidid>https://orcid.org/0000-0001-9801-925X</orcidid><orcidid>https://orcid.org/0000-0002-3232-0055</orcidid><orcidid>https://orcid.org/0000-0002-5079-5644</orcidid><orcidid>https://orcid.org/0000-0003-3594-7387</orcidid><orcidid>https://orcid.org/0000-0002-1386-4575</orcidid><orcidid>https://orcid.org/0000-0002-1034-6406</orcidid><orcidid>https://orcid.org/0000-0002-1667-2480</orcidid></search><sort><creationdate>2020</creationdate><title>Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center</title><author>Tanatar, Ayşe ; 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The study aimed to compare the performances of three validated diagnostic criteria (Tel-Hashomer, Livneh, pediatric criteria) and new Eurofever/PRINTO classification criteria. The medical charts of study and control groups were reviewed retrospectively. Patients were evaluated for three diagnostic criteria and new Eurofever/PRINTO classification criteria. Control group consists of patients with other autoinflammatory diseases. A total of 1291 patients were classified into three groups according to their mutations: group 1: 447 patients with homozygous mutations; group 2: 429 patients with compound heterozygous mutations; and group 3: 415 patients with one heterozygous mutation. Similar diagnostic utility was found according to Livneh criteria between groups. But, proportion of patients fulfilling Tel-Hashomer and pediatric criteria was higher in groups 1 and 2. According to Eurofever/PRINTO criteria, 98.2% of patients with homozygous mutations, 94.2% of patients with compound heterozygous mutations and 80.2% of patients with heterozygous mutations were classified as FMF. In control group, 99.2% of them fulfilled the Livneh criteria, 66.9% met the pediatric criteria and 0.8% satisfied the Tel-Hashomer criteria, while none of control patients met the Eurofever/PRINTO classification criteria. Performances of three validated diagnostic criteria and new Eurofever/PRINTO classification criteria for FMF were similar and provide high utility in diagnosing/classifying patients with homozygous and compound heterozygous mutations. However, both Eurofever/PRINTO classification criteria and Tel-Hashomer criteria had significantly lower performance in heterozygous patients.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>31646357</pmid><doi>10.1007/s00296-019-04463-w</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-9186-3068</orcidid><orcidid>https://orcid.org/0000-0001-9801-925X</orcidid><orcidid>https://orcid.org/0000-0002-3232-0055</orcidid><orcidid>https://orcid.org/0000-0002-5079-5644</orcidid><orcidid>https://orcid.org/0000-0003-3594-7387</orcidid><orcidid>https://orcid.org/0000-0002-1386-4575</orcidid><orcidid>https://orcid.org/0000-0002-1034-6406</orcidid><orcidid>https://orcid.org/0000-0002-1667-2480</orcidid></addata></record> |
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| ispartof | Rheumatology international, 2020, Vol.40 (1), p.21-27 |
| issn | 0172-8172 1437-160X |
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| subjects | Adolescent Arthritis - physiopathology Case-Control Studies Casualties Chest Pain - physiopathology Child Child, Preschool Classification Classification Criteria Colchicine - therapeutic use Consanguinity Decades Drug Resistance Exons - genetics Familial Mediterranean Fever - classification Familial Mediterranean Fever - diagnosis Familial Mediterranean Fever - genetics Familial Mediterranean Fever - physiopathology Female Hereditary Autoinflammatory Diseases - classification Hereditary Autoinflammatory Diseases - diagnosis Heterozygote Homozygote Humans Male Medicine Medicine & Public Health Mutation Pediatrics Pyrin - genetics Reproducibility of Results Retrospective Studies Rheumatology Severity of Illness Index Tubulin Modulators - therapeutic use |
| title | Performance of Tel-Hashomer, Livneh, pediatric and new Eurofever/PRINTO classification criteria for familial Mediterranean fever in a referral center |
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