Evaluation of the current disease severity scores in paediatric FMF: is it necessary to develop a new one?

Kalkan, Gökhan; Demirkaya, Erkan; Açıkel, Cengiz Han; Polat, Adem; Peru, Harun; Karaoğlu, Abdülbaki; Sarı, Erkan; Dursun, İsmail; Gök, Faysal; Özen, Seza

doi:10.1093/rheumatology/ker421

Cited by 26 publications

(21 citation statements)

References 20 publications

(51 reference statements)

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“…Additionally, Kalkan et al (25) reported that a new disease severity scoring system must be developed for children with FMF to facilitate assessment of daily care performance or individual patient prognosis and guide care. …”

Section: Disease Severity Scorementioning

confidence: 99%

Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever

Özlü¹,

Ergüven²,

HAMZAH³

2015

Turkish J Pediatr Dis

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Objective: The aim of this study was to review the demographic, clinical, and laboratory data of pediatric familial Mediterranean fever (FMF) patients, and to investigate whether there is a correlation between phenotype and genotype in this population. Material and Methods:The medical records of 192 children (106 male and 86 female) with FMF who were followed at Department of Rheumatology-İstanbul Göztepe Training and Research Hospital, were retrospectively evaluated. The patients were divided into four groups according to the most common mutations of M680I, M694V, and V726A as follows: group 1: M694V heterozygote; group 2: M694V/M694V homozygote; group 3: compound heterozygote (M694V/M680I or M694V/V726A); group 4: group with no mutation. These groups were compared to each other according to age, gender, age at disease onset, age at diagnosis, fever, abdominal pain, arthralgia-arthritis, chest pain, erysipelas-like erythema, disease severity score, amyloidosis and family history. Results:The disease severity score was higher in the M694V homozygote and compound heterozygote groups than in the group with no mutation, but there was no difference between the M694V homozygote and M694V heterozygote groups.conclusion: Although the patient population was small and few mutations were detected in the present study, we conclude that the patients that were homozygous for M694V mutations were prone to severe disease.Key Words: Children, Familial Mediterranean fever, Genotype phenotype ÖzET Amaç: Çalışmada "Ailevi Akdeniz Ateşi (AAA)" tanısı olan çocuk hastaların demografik, klinik ve laboratuvar özelliklerinin incelenmesi ve ayrıca gen mutasyonlarının hastalık ağırlık skorlaması üzerine etkisinin araştırılması amaçlanmıştır. Gereç ve Yöntemler:İstanbul Göztepe Eğitim ve Araştırma Hastanesi, Çocuk Romatoloji polikliniğinde AAA tanısı ile izlenen 192 çocuk hastanın (106 erkek, 86 kız) dosyaları geriye dönük olarak incelendi. Hastalar, en sık rastlanan mutasyonlar olan M694V, M680I ve V726A mutasyonlarının varlığına göre dört gruba ayrıldı: grup 1:M694V heterozigot mutasyonu olanlar; grup 2: M694V/M694V homozigot mutasyonu olanlar; grup3: birleşik heterozigot mutasyonu olanlar (M694V/M680I veya M694V/V726A); grup 4: mutasyonu olmayanlar. Bu gruplar yaş, cinsiyet, aile öyküsü, hastalığın başlangıç yaşı, tanı yaşı, ateş, karın ağrısı, artrit-artralji, göğüs ağrısı, erizipel benzeri eritem, amiloi doz varlığı ve hastalık ağırlık skorlaması açısından karşılaştırıldı. Bulgular:Hastalık ağırlık skorlaması M694V homozigot olan grupta ve birleşik heterozigot olan grupta mutasyon taşımayan gruba göre anlamlı olarak daha yüksek saptandı. M694V mutasyonu homozigot ve heterozigot olan iki grup arasında ise hastalık ağırlık skorlaması açısından istatistiksel anlamda fark saptanmadı.Sonuç: Çalışmada hasta sayısı ve çalışılan mutasyon sayısının az olmasına karşın, homozigot M694V mutasyonu saptanan hastaların daha ağır hastalığa eğilimli oldukları görülmektedir.

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Section: Disease Severity Scorementioning

confidence: 99%

Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever

Özlü¹,

Ergüven²,

HAMZAH³

2015

Turkish J Pediatr Dis

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“…The particu lar muta tions mentioned by Kalkan et al 2 were found in only 38% of Turkish children with amyloidosis, the proto typical severe manifestation of the disease; the major ity of this cohort carried other mutations usually found in patients with mild disease. 5 In another study of 102 Turkish children, neither er ysipelaslike erythema (ELE) nor pleuri tic chest pain were associated with specific geno types, despite being pheno typic markers of increased disease severity.…”

Section: Papermentioning

confidence: 58%

“…This conclusion should, however, be care fully evaluated in light of some limitations in the methodology of the Kalkan et al 2 …”

mentioning

confidence: 98%

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Severity scoring system for paediatric FMF

Livneh

2012

Nat Rev Rheumatol

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“…However, the performance of the two modifi ed sets did not correlate with each other, giving the impression that a well-performing pediatric score tool needs to be created [ 8 , 29 ]. Therefore, another severity score is currently being established, this time, by an international consortium consisting of experts across the Mediterranean basin, with extensive clinical experience in FMF [ 29 ]. The goal of the project was to develop widely accepted international severity score for children and adult patients with FMF that can be easily applied in research and clinical practice.…”

Section: Severity Scoring Systemsmentioning

confidence: 99%

Evaluation of the Current Disease Scoring Systems in Familial Mediterranean Fever

Demirkaya¹,

Livneh

2015

Rare Diseases of the Immune System

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Evaluation of the current disease severity scores in paediatric FMF: is it necessary to develop a new one?

Abstract: The inconsistency of the two scoring systems and lack of correlation between the scoring systems and mutation groups raises concerns about the reliability of these scoring systems in children. There is a need to develop a scoring system in children based on a prospective registry.

Cited by 26 publications

References 20 publications

Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever

Genotype and Phenotype Correlations in Children with Familial Mediterranean Fever

Severity scoring system for paediatric FMF

Evaluation of the Current Disease Scoring Systems in Familial Mediterranean Fever

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