scholarly journals Eosinophilic Gastroenteritis and Familial Mediterranean Fever in a Child With MEFV Gene Mutation

2019 ◽  
Author(s):  
Sanaz Mehrabani ◽  
Mohammad Pornasrollah ◽  
Leila Moslemi
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Histopathological Examination ◽  
Mefv Gene ◽  
Eosinophilic Gastroenteritis ◽  
Inflammatory Disorder ◽  
Medical Sciences ◽  
Exact Etiology ◽  
Mediterranean Fever

Eosinophilic gastroenteritis (EG) is a rare inflammatory disorder affecting both children and adults. The exact etiology of the disease is not clear. A child presented with episodic generalized abdominal pain since a year ago without fever at first. After endoscopic and colonoscopic examinations, histopathological examination showed an increased number of eosinophils and diagnosis of EG was made. After elimination of dairy products from his regimen, abdominal pain attacks was reduced, but he got a fever. Familial Mediterranean Fever (FMF) diagnosis was made by genetic evaluation which showed MEV gene mutation. Symptoms were resolved with the treatment of colchicine which confirmed FMF diagnosis. © 2019 Tehran University of Medical Sciences. All rights reserved. Acta Med Iran 2019;57(5):328-331.

scholarly journals Familial Mediterranean Fever: an unusual cause of liver disease

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Maria Cristina Maggio ◽  
Maria Castiglia ◽  
Giovanni Corsello
Keyword(s):  
Abdominal Pain ◽  
Liver Disease ◽  
Familial Mediterranean Fever ◽  
Serum Amyloid A ◽  
Mefv Gene ◽  
Serum Amyloid ◽  
Aphthous Stomatitis ◽  
Homozygous Mutation ◽  
Amyloid A ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean Fever is an autoinflammatory disease typically expressed with recurrent attacks of fever, serositis, aphthous stomatitis, rash. Only a few reports describe the association with hepatic involvement. Case presentation We describe the clinical case of a child affected, since the age of 1 year, by recurrent fever, aphthous stomatitis, rash, arthralgia, associated with abdominal pain, vomiting, lymphadenopathy. The diagnosis of Familial Mediterranean Fever was confirmed by the genetic study of MEFV gene; the homozygous mutation M694 V in exon was documented. A partial control of attacks was obtained with colchicine. The child continued to manifest only recurrent episodes of abdominal pain without fever, however serum amyloid A persisted high, in association with enhanced levels of CRP, AST and ALT (1.5 x n.v.). The dosage of colchicine was increased step by step and the patient achieved a better control of symptoms and biochemical parameters. However, the patient frequently needed an increase in the dose of colchicine, suggesting the possible usefulness of anti-interleukin-1 beta treatment. Conclusions The unusual presentation of Familial Mediterranean Fever with liver disease suggests the role of inflammasome in hepatic inflammation. Colchicine controls systemic inflammation in most of the patients; however, subclinical inflammation can persist in some of them and can manifest with increased levels of CRP, ESR, serum amyloid A also in attack-free intervals.

Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever

Rheumatology ◽  
2021 ◽  
Author(s):  
Irit Tirosh ◽  
Yonatan Yacobi ◽  
Asaf Vivante ◽  
Ortal Barel ◽  
Yishay Ben-Moshe ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Significance ◽  
Mefv Gene ◽  
Clinical Manifestations ◽  
Leg Pain ◽  
Compound Heterozygous ◽  
Phenotype Correlation ◽  
Heterozygous Variant ◽  
Mediterranean Fever

Abstract Objectives Familial Mediterranean Fever (FMF) results from mutations in the Mediterranean fever (MEFV) gene. The p.E148Q is one of the most frequent protein alternations in the MEFV gene, yet the exact E148Q genotype–phenotype correlation remains unclear. The aim of this study was to examine clinical significance of heterozygous E148Q variant in a paediatric FMF cohort. Methods We compared the clinical manifestations and disease severity score of four genetic sub-groups: (1) patients harboring a single heterozygous p.E148Q variant (n = 6); (2) patients harboring a single p.M694V heterozygous variant (n = 88); (3) patients harboring compound heterozygous p.M694V and p.E148Q variants (n = 36) and (4) homozygotes for p.M694V variant (n = 160). Results Of 646 FMF children from our centre, only 1% (6 patients) of our genetically characterized FMF cohort had a single E148Q variant, most presenting with recurrent fevers and abdominal pain. None of the participants were found to harbor homozygous E148Q. Overall, M694V/E148Q compound heterozygosity did not exhibit a more severe phenotype compared to patients with a single M694V variant. The former group were less likely to have abdominal pain and exertional leg pain (p < 0.004 and p < 0.001 respectively) and more likely to have chest pain (P < 0.01). Both sub-groups showed milder clinical phenotype compared to patients with M694V homozygosity. Conclusion Our findings demonstrate that a single heterozygous E148Q variant is unlikely to cause FMF in children and that E148Q/M694V is clinically indistinguishable from a single M694V variant. Thus, E148Q heterozygosity does not result in clinically meaningful phenotype in children.

scholarly journals Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

2021 ◽  
Vol 48 (3) ◽  
pp. 2025-2033
Author(s):  
Abdullah Arpacı ◽  
Serdar Doğan ◽  
Hazal Fatma Erdoğan ◽  
Çiğdem El ◽  
Sibel Elmacıoğlu Cura
Keyword(s):  
Familial Mediterranean Fever ◽  
Ethnic Groups ◽  
Gene Mutation ◽  
Mefv Gene ◽  
Gene Mutations ◽  
University Hospital ◽  
New Mutation ◽  
Exon 2 ◽  
Mediterranean Fever ◽  
Mefv Gene Mutation

AbstractFamilial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.

scholarly journals Familial Mediterranean Fever in Iran: A Report from FMF Registration Center

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Farhad Salehzadeh
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Positive Family History ◽  
Gene Mutations ◽  
Skin Lesions ◽  
Common Mutation ◽  
Clinical Criteria ◽  
Mediterranean Fever ◽  
The Mean

Background. Familial Mediterranean fever (FMF) is a periodic AR autoinflammatory disorder. This comprehensive study describes FMF in Iran as a country near Mediterranean area.Materials and Methods. From the country FMF registration center 403 patients according to Tel-Hashomer criteria enrolled this study, 239 patients had MEFV gene mutations analyses. Data, if needed, was analyzed by SPSS v20.Results. 175 patients (43.4%) were female and 228 patients (56.6%) were male. The mean age was 21.3 years. Abdominal pain was in 93.3% patients and 88.1% had fever. Abdominal pain was the main complaint of patients in (49.6%). The mean interval between attacks was36.5±29.6days and the mean duration of every episodes was43.3±34.5hours. 15.1% of patients had positive family history and 12.7% had previous surgery; in 52.3% of patients delay in diagnosis was more than three years. 12 common MEFV gene mutations were analyzed, 21.33% were without mutations, 39.7% had compound heterozygote, 25.52% showed heterozygous, and 13.38% showed homozygous results. The most common compound genotype was M694V-V726A (% 10.46) and in alleles M694V (% 20.9) and V726A (% 12.7) were the most frequent mutations, respectively.Conclusion. M694V was the most common mutation, and the most common compound genotype was M694V-V726A. Our genotype results are similar to Arabs and in some way to Armenians, erysipelas-like skin lesions are not common in this area, and clinical criteria are the preferred methods in diagnosis of FMF.

scholarly journals The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

2016 ◽  
Vol 19 (2) ◽  
pp. 23-28 ◽  
Author(s):  
F Battal ◽  
F Silan ◽  
N Topaloğlu ◽  
H Aylanç ◽  
Ş Yıldırım ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Familial Mediterranean Fever ◽  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Correct Diagnosis ◽  
Mefv Gene ◽  
Pathogenic Variants ◽  
Spin Column ◽  
Mediterranean Fever ◽  
Genotype Correlation

AbstractThe aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. TheMEFVgene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p.Met694Val (20.0%), p.Glu148Gln (13.3%), p.Met680 Ile (11.7%) and p.Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of theMEFVgene is needed to establish the correct diagnosis of FMF in children and other family members.

scholarly journals A Very Rare Cause of Pleuritic Chest Pain: Bilateral Pleuritis as a First Sign of Familial Mediterranean Fever

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Sevket Ozkaya ◽  
Saliha E. Butun ◽  
Serhat Findik ◽  
Atilla Atici ◽  
Adem Dirican
Keyword(s):  
Abdominal Pain ◽  
Chest Pain ◽  
Pleural Effusion ◽  
Familial Mediterranean Fever ◽  
Gene Mutation ◽  
Colchicine Treatment ◽  
Pleuritic Chest Pain ◽  
Mediterranean Fever ◽  
Recurrent Pleural Effusion ◽  
Gene Mutation Analysis

The familial Mediterranean fever (FMF), also called recurrent polyserositis, is characterized by reccurrent episodes of serositis at pleura, peritoneum, and synovial membrane and fever. We present a patient with recurrent bilateral pleural effusion due to serositis attacks as a first sign of FMF. A 59-year-old Turkish man suffered from recurrent pleuritic chest pain due to pleural effusion and atelectasis. The etiology was not found, and his symptoms were spontaneously recovered during several weeks. The pleuritic chest pain was associated with abdominal pain in the last attack. The gene mutation analysis revealed the homozygosity of FMF (F479L) gene mutation in both our patient and his grandchild. After the colchicine treatment, the attack has not developed. In conclusion, recurrent pleural effusion and pleuritic chest pain may be the first signs of the FMF.

E148Q of the MEFV Gene Causes Amyloidosis in Familial Mediterranean Fever Patients

PEDIATRICS ◽  
2001 ◽  
Vol 108 (1) ◽  
pp. 215-215 ◽  
Author(s):  
N. Akar ◽  
E. Akar ◽  
F. Yalcinkaya; ◽  
G. J. Halpern ◽  
A. Mimouni ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Mediterranean Fever

scholarly journals Toll-like receptor-4 gene variations in Egyptian children with familial Mediterranean fever

2021 ◽  
Vol 48 (1) ◽  
Author(s):  
Yomna Farag ◽  
Samia Salah ◽  
Hanan Tawfik ◽  
Mai Hamed ◽  
Huda Marzouk
Keyword(s):  
Familial Mediterranean Fever ◽  
Disease Severity ◽  
Gene Mutation ◽  
Rflp Analysis ◽  
Gene Variants ◽  
Gene Variant ◽  
Toll Like Receptor ◽  
Toll Like Receptor 4 ◽  
Egyptian Children ◽  
Mediterranean Fever

Abstract Background Familial Mediterranean fever (FMF) is an autosomal recessive disorder affecting people in the region of the Mediterranean Sea. It is usually associated with mutation in Mediterranean fever (MEFV) gene that encodes the pyrin protein, which affects the innate inflammatory response. Toll-like receptors (TLR) are a family of pattern recognition receptors that recognize pathogenic microbes and activate antimicrobial defense mechanisms. Toll-like receptor 4 (TLR-4) is concerned with recognition of gram-negative organisms. There is growing clinical evidence suggesting a role for expression of TLRs in the immune pathogenesis of FMF. Thus, the aim of the current study was to evaluate the presence of TLR-4 (p.Asp299Gly) and TLR-4 (p.Thr399Ile) gene variants in association with Egyptian children having FMF, furthermore, its effect on disease course and severity. Results Seventy Egyptian children diagnosed as having FMF, together with 50 age and gender-matched controls were enrolled in the study. The TLR-4 (p.Asp299Gly) and (Thr399Ile) gene variants were determined by PCR-RFLP analysis for all studied patients and controls. TLR-4 p.Asp299Gly gene variant was detected in 1 (1.4%) of the patients and p.Thr399Ile gene variant was detected in 2 (2%). None of the controls had any of the two tested gene variants. All found variations were heterozygous. We could not find a statistically significant association with disease severity in cases with or without TLR-4 gene variants (P = 0.568). Patients with M694V gene mutation showed a higher disease severity (P = 0.035). Conclusion TLR-4 (p.Asp299Gly) and (p.Thr399Ile) gene variants were not found to have a link with the occurrence, the clinical picture of FMF, its severity, and response to colchicine treatment in Egyptian children. M694V gene mutation seems to be associated with higher disease severity. Further larger studies are needed to verify these results.

AB0980 CASE-REVIEW ON FAMILIAL MEDITERRANEAN FEVER IN A SPECIALIZED CENTRE

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1784.1-1784
Author(s):  
R. Dos Santos Sobrín ◽  
M. Martí Masanet ◽  
B. Lopez-Montesinos ◽  
L. Lacruz Pérez ◽  
I. Calvo
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Familial Mediterranean Fever ◽  
Periodic Fever ◽  
Severe Disease ◽  
Strong Association ◽  
Mefv Gene ◽  
Systemic Juvenile Idiopathic Arthritis ◽  
Case Series ◽  
Case Review ◽  
Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder caused mostly by mutations in MEFV gene. Its inheritance is autosomal recessive and is the most frequent periodic fever syndrome. First-line treatment is based in colchicine use, so biologics (anti-IL-1) are reserved for refractory cases1, 2.Objectives:To account for clinic and treatment features of patients with FMF in a specialized center as opposed to non-referent centers.Methods:This study was developed in the Pediatric Rheumatology Service in Hospital Universitario y Politécnico La Fe de Valencia. Demographic, clinic and treatment data were collected from patients diagnosed of FMF since January 2004 to September 2019.Results:106 patients met last FMF criteria3. 55% had a pathogenic mutation in genetic analysis. 52% were female. Before 10 years old, 71% of patients had the diagnosis (51% before 4 years old). Arthralgia/myalgia (73%), periodic fever (62%) and abdominal pain (54%) were the most common symptoms. Systemic Juvenile Idiopathic Arthritis (JIA, 6), other forms of JIA (9) and vasculitis (10) were the most prevalent comorbidities. When talking about treatment, 76,4% received Colchicine (60,5% with good response), 22,6% needed a classical disease modifying antirheumatic drug (mostly Methotrexate) and 22 patients got biologic treatment (73% anti-IL-1).Conclusion:When analyzing this case-review, JIA has a strong association with our patients, so it could explain severe disease activity and more articular involvement. This could be an illustration to the higher use of Methotrexate. Also, the most relevant symptom was arthralgia while fever is the most frequent in literature. Likewise, age of diagnosis has been earlier than other case-series (this would be more frequent in other autoinflammatory syndromes, as literature relates)1, 2, 4.References:[1]Ozdogan H, Ugurlu S. Familial Mediterranean Fever. Presse Med. (2019).[2]Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75:644-651.[3]Sag E, Demirel D, Demir S, et al. Performance of the new “Eurofever/PRINTO classification criteria” in FMF patients. Semin Arthritis Rheum. 2019;19:30369-5.[4]Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol. 2004;22:S75-8.Disclosure of Interests:Raquel Dos Santos Sobrín: None declared, Miguel Martí Masanet: None declared, B Lopez-Montesinos: None declared, Lucía Lacruz Pérez: None declared, Inmaculada Calvo Grant/research support from: Bristol-Myers Squibb, Clementia, GlaxoSmithKline, Hoffman-La Roche, Merck Sharpe & Dohme, Novartis, Pfizer, Sanofi, Speakers bureau: AbbVie, GlaxoSmithKline, Hoffman-La Roche, Novartis

Sign in / Sign up

Export Citation Format

Share Document