Comparison of early versus late onset familial Mediterranean fever

Bilge, Nazife Şule Yaşar; Sarı, İ̇smail; Solmaz, Dilek; Şenel, Soner; Emmüngil, Hakan; Kılıç, Levent; Öner, Setenay; Yıldız, Fatih; Yılmaz, Sedat; Bozkırlı, Duygu Ersözlü; Tufan, Müge Aydın; Yılmaz, Sema; Yazısız, Veli; Pehlıvan, Yavuz; Beş, Cemal; Çetin, Gözde Yıldırım; Erten, Şükran; Gönüllü, Emel; Şahin, Fezan; Akar, Servet; Aksu, Kenan; Kalyoncu, Umut; Direşkeneli, Haner; Erken, Eren; Sayarlıoğlu, Mehmet; Çınar, M.; Kaşifoğlu, Timuçin

doi:10.1111/1756-185x.13259

Cited by 27 publications

(23 citation statements)

References 11 publications

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“…About 90% of patients experience their attacks before the age of 20 years. 15 Researchers have detected a high frequency of MEFV mutation carriers in distinct regions of Iran, Turkey, and Armenia. 2,16…”

Section: Discussionmentioning

confidence: 99%

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

et al. 2019

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BACKGROUND: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia. OBJECTIVE: Determine the distributions of MEFV mutations and their relationship with clinical manifestations. DESIGN: Retrospective, descriptive. SETTING: Turkish community. SUBJECTS AND METHODS: The study included patients with complaints related to FMF who were admitted to the research hospital of Cumhuriyet University between 2005 and 2017. FMF was diagnosed by physical examination using the Tel-Hashomer criteria. MEFV mutations were detected by reverse hybridization strip assay and pyrosequencing. MAIN OUTCOME MEASURE: The prevalence of specific MEFV gene mutations in a large cohort of Middle Anatolia. SAMPLE SIZE: 10 033 patients admitted, 1223 with confirmed mutations. RESULTS: Of 1684 patients diagnosed by Tel-Hashomer criteria, mutation screening confirmed that 1223 patients (72.6%) had FMF. Male/ female ratio of the FMF patients was 1.3:1. One or more FMF mutations were found in 4497 patients (44.8%). 3262 had heterozygous or carrier mutations, 821 had compound heterozygous mutation, 381 had homozygous mutations, and 21 had triple mutations. Sixty-six percent had a family history of the disease and 13.7% of the patients had parental consanguinity. Main symptoms found in the patients were abdominal pain (85.2%), fever (84%), chest pain (30.2%), arthralgia (28.6%), rash or erysipelas-like erythema (8.2%). The most common mutation in this population was M694V (39%) of 5753 alleles. CONCLUSION: M694V was the most frequent mutation in our population (Middle Anatolia, Turkey) and cause severe forms of the disease. Patients with E148Q, V726A and R761H mutations may have milder FMF symptoms. There was a high rate of carriers in our study group. LIMITATIONS: Amyloidosis, an important complication of the disease, needs to be analyzed. CONFLICT OF INTEREST: None.

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Section: Discussionmentioning

confidence: 99%

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

et al. 2019

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“…Furthermore, our patient’s symptoms developed at older age than is typical of FMF. There are cases of late-onset FMF described,8 which raises the possibility that there may be environmental triggers contributing towards the development of FMF.…”

Section: Discussionmentioning

confidence: 99%

Symptomatic patients with P369S–R408Q mutations: familial Mediterranean fever or mixed auto-inflammatory syndrome?

Davies¹,

Lonergan

Patel

et al. 2019

BMJ Case Rep

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A 51-year-old South African female of Ashkenazi Jewish descent was admitted with acute pleuritic chest pain, shortness of breath, fatigue and fever. She experienced vague abdominal and calf pains for 30 years. Her monozygotic twin was investigated independently for recurrent abdominal pain. Despite initially responding to antibiotics, treating suspected pneumonia, she developed recurrent fevers and pleuritic chest pain. After thorough investigation without significant findings, she re-attended days after discharge with similar symptoms. Familial Mediterranean fever (FMF) was suggested as she met diagnostic criteria and responded to colchicine, though FMF normally presents before 20 years old. Genetic testing showed no pathogenic mutations but heterozygous P369S and R408Q mutations. The significance of these mutations remains unclear, as they are found in asymptomatic patients, suggesting incomplete penetrance. She remains well, with full symptom resolution, but mixed auto-inflammatory syndrome may be a more appropriate diagnosis in symptomatic patients with both P369S and R408Q mutations.

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“…Familial Mediterranean fever (FMF) is characterized by recurrent episodes of polyserositis [1]. Until the diagnosis, the patients often get medical advice frequently from different specialities due to the variable clinical features of the disease [2]. Nevertheless, diagnostic delay is still not infrequent.…”

Section: Dear Editormentioning

confidence: 99%

Pre-diagnostical Knowledge Did Not Provide Early Diagnosis in a Single-Center Turkish Familial Mediterranean Fever Cohort

Tezcan

Avcı

2020

SN Compr. Clin. Med.

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Early diagnosis of familial Mediterranean fever (FMF) is crucial for preventing both recurrent attacks of polyserositis and complications in the course of the disease such as amyloidosis. Pre-diagnostical knowledge about the disease may assist early diagnosis. In this study, we evaluated the importance of pre-diagnostical knowledge about FMF for early diagnosis. We enrolled 138 FMF patients to the study. Then, the patients were dichotomized according to the patients' FMF knowledge before diagnosis. We found that 40 (28.9%) of the patients were informed of the disease before diagnosis. Thirty-six of those patients got the data from their family members with FMF. Both demographic and disease-related features were similar between the groups. Furthermore, pre-diagnostic knowledge about FMF did not assist for early diagnosis of FMF. Interestingly, only half of the patients with history of FMF in family members were informed of the disease before diagnosis. Therefore, genetic consultation and patient education with questioning the patients for family history during medical evaluation may help early diagnosis in FMF.

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Comparison of early versus late onset familial Mediterranean fever

Abstract: Patients with FMF whose symptoms start before 20 years of age seem to have severe symptoms and M694V mutation may be responsible for the early expression of the disease.

Cited by 27 publications

References 11 publications

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia

Symptomatic patients with P369S–R408Q mutations: familial Mediterranean fever or mixed auto-inflammatory syndrome?

Pre-diagnostical Knowledge Did Not Provide Early Diagnosis in a Single-Center Turkish Familial Mediterranean Fever Cohort

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