Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene: Report on two Northern European Caucasians relatives in France - 11/02/20

Doi : 10.1016/j.jbspin.2020.01.005

Ines Elhani ^a, Anael Dumont ^a, Samuel Deshayes ^a, Sophie Georgin-Lavialle ^b, Irina Giurgea ^c, Achille Aouba ^a,⁎
^a Normandie University, UNICAEN, service de médecine interne et immunologie clinique, CHU de Caen Normandie, 14000 Caen, France
^b Service de médecine interne, Sorbonne Université, UPMC University Paris 06, hôpital Tenon, AP–HP, 75020 Paris, France
^c Service de génétique et d’embryologie médicale, Sorbonne Université, UPMC University Paris 06, hôpital Trousseau, AP–HP, 75012 Paris, France

^⁎Corresponding author.

Sous presse. Épreuves corrigées par l'auteur. Disponible en ligne depuis le Tuesday 11 February 2020
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Abstract

Introduction

Familial Mediterranean fever is the most frequent monogenic auto-inflammatory disorder that mostly affects Mediterranean population. Although this auto-inflammatory disease has historically been described as a recessive genetic disorder with homozygous or compound heterozygous mutations in the MEFV gene, an increasing number of cases are described with the detection of new single MEFV gene heterozygous mutations with modern molecular techniques.

Case description

We report the cases of Caucasian French descent father and daughter who exhibited joint and abdominal inflammatory attacks resembling Familial Mediterranean Fever. Genetic studies revealed in both a heterozygous mutation p.T577N in exon 8 of MEFV gene, and in which colchicine was effective for preventing the attacks.

Conclusion

Single heterozygous mutation of MEFV can be responsible for typical Familial Mediterranean Fever clinical pattern and, what is more, in non-Mediterranean ethnic background patients.

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Keywords : Familial Mediterranean Fever, Autoinflammatory disease, Colchicine, p.T577N, MEFV