La fièvre méditerranéenne familiale

Georgin-Lavialle, S.; Hentgen, Véronique; Stojanovic, Katia Stankovic; Bachmeyer, Claude; Rodrigues, F.; Savey, Léa; Abbara, S.; Conan, P.L.; Fraisse, Thibault; Delplanque, Marion; Rouet, Albert; Sbeih, N.; Koné‐Paut, Isabelle; Grateau, Gilles

doi:10.1016/j.revmed.2018.02.005

Cited by 30 publications

(14 citation statements)

References 115 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Les accès durent un à trois jours. La principale complication est l'amylose rénale qui est le facteur pronostic majeur [1]. Le risque de décès par l'amylose est corrélé à la précocité de début de la maladie [7].…”

Section: Discussionunclassified

See 1 more Smart Citation

Apport des signes cutanés sur le diagnostic précoce d'une maladie périodique: à propos d'un cas

Diadié¹,

Sow²,

Ndiaye³

et al. 2019

Pan Afr Med J

View full text Add to dashboard Cite

show abstract

Section: Discussionunclassified

“…La fièvre méditerranéenne familiale (FMF) ou maladie périodique (MP) est une fièvre récurrente héréditaire à transmission autosomique récessive associée à une mutation du gène MEFV. Elle touche les populations originaires du pourtour de la méditerranée [1]. Elle n'est pas décrite en Afrique subsaharienne.…”

Section: Introductionunclassified

Apport des signes cutanés sur le diagnostic précoce d'une maladie périodique: à propos d'un cas

Diadié¹,

Sow²,

Ndiaye³

et al. 2019

Pan Afr Med J

View full text Add to dashboard Cite

show abstract

“…Familial Mediterranean fever (FMF), the most frequent monogenic auto‐inflammatory disease (AID), is associated with MEFV mutations encoding pyrin 1 . FMF is characterized by recurrent episodes of fever with serositis, arthritis and elevation of inflammatory markers (C‐reactive protein (CRP), and serum amyloid A protein (SAA)).…”

Section: Introductionmentioning

confidence: 99%

“Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france”

et al. 2021

Self Cite

View full text Add to dashboard Cite

Introduction Familial Mediterranean Fever (FMF), the most common monogenic auto‐inflammatory disease, is characterized by recurrent febrile abdominal pain. Helicobacter pylori infection (HPI), one of the most frequent infections worldwide, can mimic an FMF attack. Objectives Identify FMF patients with HPI in a cohort of French FMF patients and the literature and identify features allowing to distinguish HPI from an FMF attack. Methods A retrospective study of all HPI cases was performed on the cohort of FMF patients fulfilling the Livneh criteria from the French Reference Center for rare Auto‐Inflammatory Diseases and Amyloidosis (CEREMAIA). A systematic literature review of HPI in FMF patients was conducted according to the PRISMA guidelines. Results Eight French patients developed HPI, whose symptoms of epigastralgia, diarrhea, anorexia/weight loss, and nausea/vomiting differed from their typical abdominal FMF attacks. A total of 112 FMF patients with HPI have been described in the literature, including 61 adults. Diagnosis of HPI was made by gastroscopy (n = 43), labelled urea test (n = 55) or IgG serology by ELISA (n = 12). When performed, C‐reactive protein was always elevated. Ten cases of interaction between colchicine and antibiotic therapy for HPI (clarithromycin (n = 9) and azithromycin (n = 1)) were reported. Conclusion We described a total of 120 patients with typical FMF and HPI. When FMF patients develop atypical abdominal symptoms, upper gastrointestinal endoscopy with biopsies is essential to eliminate underlying HPI. Untreated HPI can lead to misdiagnosis of colchicine resistance with inappropriate prescription of an interleukin‐1 inhibitor at a non‐negligible cost.

show abstract

“…Familial Mediterranean Fever is an autosomal recessive inherited inflammatory disease [1–3] (however, it has been observed that a substantial number of patients with clinical FMF possess only one demonstrable MEFV mutation [4, 5]) that is principally seen in different countries [6–10]. However, patients from different ethnicities (such as Japan) are being increasingly recognized [2, 11], and the carrier frequency for MEFV genetic variants in the population in the Mediterranean basin is about 8% [12].…”

Section: Introductionmentioning

confidence: 99%

“…However, patients from different ethnicities (such as Japan) are being increasingly recognized [2, 11], and the carrier frequency for MEFV genetic variants in the population in the Mediterranean basin is about 8% [12]. Most cases of FMF usually present with acute abdominal pain and fever [1, 3, 7], both of which are also the main causes of referral in the emergency department [13]. All these factors may help in medical treatment.…”

Section: Introductionmentioning

confidence: 99%

Novel Deleterious nsSNPs withinMEFVGene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial Mediterranean Fever: Using Bioinformatics Analysis

Mustafa

Abdelrhman

et al. 2019

Advances in Bioinformatics

View full text Add to dashboard Cite

Background. Familial Mediterranean Fever (FMF) is the most common autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. We aimed to identify the pathogenic SNPs in MEFV by computational analysis software. Methods. We carried out in silico prediction of structural effect of each SNP using different bioinformatics tools to predict substitution influence on protein structure and function. Result. 23 novel mutations out of 857 nsSNPs are found to have deleterious effect on the MEFV structure and function. Conclusion. This is the first in silico analysis of MEFV gene to prioritize SNPs for further genetic mapping studies. After using multiple bioinformatics tools to compare and rely on the results predicted, we found 23 novel mutations that may cause FMF disease and it could be used as diagnostic markers for Mediterranean basin populations.

show abstract

La fièvre méditerranéenne familiale

Cited by 30 publications

References 115 publications

Apport des signes cutanés sur le diagnostic précoce d'une maladie périodique: à propos d'un cas

Apport des signes cutanés sur le diagnostic précoce d'une maladie périodique: à propos d'un cas

“Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france”

Novel Deleterious nsSNPs withinMEFVGene that Could Be Used as Diagnostic Markers to Predict Hereditary Familial Mediterranean Fever: Using Bioinformatics Analysis

Contact Info

Product

Resources

About