Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia
Clinical and genetic findings of familial Mediterranean fever (FMF) may be variable in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients who were treated in a single re...
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| Veröffentlicht in: | Rheumatology international 2010-05, Vol.30 (7), p.911-915 |
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| creator | Üreten, Kemal Gönülalan, Gülsüm Akbal, Erdem Güneş, Fahri Akyürek, Ömer Özbek, Mustafa Öztürk, M. Akif |
| description | Clinical and genetic findings of familial Mediterranean fever (FMF) may be variable in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients who were treated in a single reference hospital in Turkey. Two hundred and sixty patients (169 females, 91 males, mean age 30.44 ± 10.29 years) were included in this study. All patients were evaluated regarding MEFV gene mutations. The mean age of disease onset was 17.21 ± 8.66 years (range 2–40 years). The mean duration between the disease onset and diagnosis was 9.39 ± 8.92 years. Seventy percent of patients had symptoms before 20 years of age (early onset FMF). Arthritis and erysipelas like erythema (ELE) were more common, and the mean duration between the disease onset and diagnosis was longer in early onset FMF patients. The frequency of attacks per year, and disease severity score (DSS) was higher in early onset patients. Homozygote mutation of M694V was detected in 37 (20.2%) and 4 (5.2%) patients in early onset FMF and adult onset FMF groups, respectively (
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| doi_str_mv | 10.1007/s00296-009-1073-6 |
| format | Article |
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p
< 0.05). Histological diagnosis of amyloidosis was established in 7 patients (2.7%). The age of disease onset was earlier, and arthritis and ELE were more frequent, and DSS was higher in patients with M694V/M694V mutation. In conclusion, mean delay to diagnosis in our FMF population is quite high. Early and adult onset forms may differ regarding some clinical, molecular and prognostic characteristics. Disease activity was higher in patients with homozygote mutation of M694V.</description><identifier>ISSN: 0172-8172</identifier><identifier>EISSN: 1437-160X</identifier><identifier>DOI: 10.1007/s00296-009-1073-6</identifier><identifier>PMID: 19641922</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Adolescent ; Adult ; Age of Onset ; Aged ; Amyloidosis - diagnosis ; Amyloidosis - genetics ; Arthritis - epidemiology ; Child ; Disease Progression ; DNA Mutational Analysis ; Early Diagnosis ; Erysipelas - epidemiology ; Familial Mediterranean Fever - diagnosis ; Familial Mediterranean Fever - epidemiology ; Familial Mediterranean Fever - genetics ; Female ; Genetic Predisposition to Disease - genetics ; Genetic Testing ; Genotype ; Homozygote ; Humans ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Mutation - genetics ; Original Article ; Rheumatology ; Severity of Illness Index ; Time Factors ; Turkey - epidemiology ; Young Adult</subject><ispartof>Rheumatology international, 2010-05, Vol.30 (7), p.911-915</ispartof><rights>Springer-Verlag 2009</rights><rights>Springer-Verlag 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c436t-62e3e3435b7111bdb9ddab555d3ac0c3729fc1e855697e8f6229de593294ceb23</citedby><cites>FETCH-LOGICAL-c436t-62e3e3435b7111bdb9ddab555d3ac0c3729fc1e855697e8f6229de593294ceb23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00296-009-1073-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00296-009-1073-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27923,27924,41487,42556,51318</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19641922$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Üreten, Kemal</creatorcontrib><creatorcontrib>Gönülalan, Gülsüm</creatorcontrib><creatorcontrib>Akbal, Erdem</creatorcontrib><creatorcontrib>Güneş, Fahri</creatorcontrib><creatorcontrib>Akyürek, Ömer</creatorcontrib><creatorcontrib>Özbek, Mustafa</creatorcontrib><creatorcontrib>Öztürk, M. Akif</creatorcontrib><title>Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia</title><title>Rheumatology international</title><addtitle>Rheumatol Int</addtitle><addtitle>Rheumatol Int</addtitle><description>Clinical and genetic findings of familial Mediterranean fever (FMF) may be variable in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients who were treated in a single reference hospital in Turkey. Two hundred and sixty patients (169 females, 91 males, mean age 30.44 ± 10.29 years) were included in this study. All patients were evaluated regarding MEFV gene mutations. The mean age of disease onset was 17.21 ± 8.66 years (range 2–40 years). The mean duration between the disease onset and diagnosis was 9.39 ± 8.92 years. Seventy percent of patients had symptoms before 20 years of age (early onset FMF). Arthritis and erysipelas like erythema (ELE) were more common, and the mean duration between the disease onset and diagnosis was longer in early onset FMF patients. The frequency of attacks per year, and disease severity score (DSS) was higher in early onset patients. Homozygote mutation of M694V was detected in 37 (20.2%) and 4 (5.2%) patients in early onset FMF and adult onset FMF groups, respectively (
p
< 0.05). Histological diagnosis of amyloidosis was established in 7 patients (2.7%). The age of disease onset was earlier, and arthritis and ELE were more frequent, and DSS was higher in patients with M694V/M694V mutation. In conclusion, mean delay to diagnosis in our FMF population is quite high. Early and adult onset forms may differ regarding some clinical, molecular and prognostic characteristics. Disease activity was higher in patients with homozygote mutation of M694V.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Amyloidosis - diagnosis</subject><subject>Amyloidosis - genetics</subject><subject>Arthritis - epidemiology</subject><subject>Child</subject><subject>Disease Progression</subject><subject>DNA Mutational Analysis</subject><subject>Early Diagnosis</subject><subject>Erysipelas - epidemiology</subject><subject>Familial Mediterranean Fever - diagnosis</subject><subject>Familial Mediterranean Fever - epidemiology</subject><subject>Familial Mediterranean Fever - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genetic Testing</subject><subject>Genotype</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mutation - genetics</subject><subject>Original Article</subject><subject>Rheumatology</subject><subject>Severity of Illness Index</subject><subject>Time Factors</subject><subject>Turkey - epidemiology</subject><subject>Young Adult</subject><issn>0172-8172</issn><issn>1437-160X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kc9OGzEQxq2qCAL0AXqprJ7Z4j-73rg3FEqLFMQlSL1ZXu9s4nTXm9peJB6E9-2EROLUi-3R_L5v5PkI-czZN85YfZ0YE1oVjOmCs1oW6gOZ8VLWBVfs90cyY7wWxRyPM3Ke0pZhrRQ7JWdcq5JrIWbk9RaGcR3tbuPdFXW9D97ZntrQ0mHKNvsxYOk2NlqXIfqUvUt07Ohqin982tDODr73yDxA65GINoANtINniHSHBhBy-k4jpKnPb0pLkw_rHqjDFkI-0AW-InrcBJtHdLskJ53tE3w63hfk6e7HavGrWD7-vF_cLAtXSpULJUCCLGXV1Jzzpm1029qmqqpWWsecrIXuHId5VSldw7xTQugWKi2FLh00Ql6QrwffXRz_TpCy2Y5TxB8nM6-5lLhlhRA_QC6OKUXozC76wcYXw5nZ52AOORjMwexzMHvNl6Px1AzQviuOi0dAHICErbCG-D75_67_ALR2lc8</recordid><startdate>20100501</startdate><enddate>20100501</enddate><creator>Üreten, Kemal</creator><creator>Gönülalan, Gülsüm</creator><creator>Akbal, Erdem</creator><creator>Güneş, Fahri</creator><creator>Akyürek, Ömer</creator><creator>Özbek, Mustafa</creator><creator>Öztürk, M. 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Akif</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia</atitle><jtitle>Rheumatology international</jtitle><stitle>Rheumatol Int</stitle><addtitle>Rheumatol Int</addtitle><date>2010-05-01</date><risdate>2010</risdate><volume>30</volume><issue>7</issue><spage>911</spage><epage>915</epage><pages>911-915</pages><issn>0172-8172</issn><eissn>1437-160X</eissn><abstract>Clinical and genetic findings of familial Mediterranean fever (FMF) may be variable in different populations. Environmental factors may also affect phenotypic features of FMF. In this study, we investigated demographic, clinical and mutational features of FMF patients who were treated in a single reference hospital in Turkey. Two hundred and sixty patients (169 females, 91 males, mean age 30.44 ± 10.29 years) were included in this study. All patients were evaluated regarding MEFV gene mutations. The mean age of disease onset was 17.21 ± 8.66 years (range 2–40 years). The mean duration between the disease onset and diagnosis was 9.39 ± 8.92 years. Seventy percent of patients had symptoms before 20 years of age (early onset FMF). Arthritis and erysipelas like erythema (ELE) were more common, and the mean duration between the disease onset and diagnosis was longer in early onset FMF patients. The frequency of attacks per year, and disease severity score (DSS) was higher in early onset patients. Homozygote mutation of M694V was detected in 37 (20.2%) and 4 (5.2%) patients in early onset FMF and adult onset FMF groups, respectively (
p
< 0.05). Histological diagnosis of amyloidosis was established in 7 patients (2.7%). The age of disease onset was earlier, and arthritis and ELE were more frequent, and DSS was higher in patients with M694V/M694V mutation. In conclusion, mean delay to diagnosis in our FMF population is quite high. Early and adult onset forms may differ regarding some clinical, molecular and prognostic characteristics. Disease activity was higher in patients with homozygote mutation of M694V.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>19641922</pmid><doi>10.1007/s00296-009-1073-6</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult Age of Onset Aged Amyloidosis - diagnosis Amyloidosis - genetics Arthritis - epidemiology Child Disease Progression DNA Mutational Analysis Early Diagnosis Erysipelas - epidemiology Familial Mediterranean Fever - diagnosis Familial Mediterranean Fever - epidemiology Familial Mediterranean Fever - genetics Female Genetic Predisposition to Disease - genetics Genetic Testing Genotype Homozygote Humans Male Medicine Medicine & Public Health Middle Aged Mutation - genetics Original Article Rheumatology Severity of Illness Index Time Factors Turkey - epidemiology Young Adult |
| title | Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia |
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