Familial Mediterranean Fever in Germany: Epidemiological, Clinical, and Genetic Characteristics of a Pediatric Population

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 2012 Aug 21

PMID 22903357

Citations 12

Authors

E Lainka

M Bielak

P Lohse

C Timmann

S Stojanov

R von Kries

T Niehues

U Neudorf

Affiliations

Soon will be listed here.

Abstract

Unlabelled: Familial Mediterranean fever (FMF) is an autoinflammatory disease and belongs to the heterogeneous group of hereditary recurrent fever syndromes (HRFs).

Aims: The aims of the study were to determine the incidence of FMF in Germany and to describe the spectrum of pyrin mutations and the clinical characteristics in children. A prospective surveillance of children with HRF including FMF was conducted in Germany during a time period of 3 years by the German paediatric surveillance unit for rare paediatric diseases (ESPED). Monthly inquiries were sent to 370 children's hospitals (Clinic-ESPED, n1) and to 23 laboratories (Laboratory-ESPED, n2). Inclusion criteria were children ≤ 16 years of age, disease-associated pyrin mutations, and more than three self-limiting episodes of fever >38.5 °C with increased inflammation markers. In n1, 122 patients with FMF and 225 pyrin mutations were identified. Ninety-two of 122 (75 %) children were of Turkish origin. The minimum incidence of FMF was estimated to be 3 (95 % CI: 2.48-3.54) per 10(6) person-years in the whole children population and 55 (95 % CI: 46-66) per 10(6) person-years in Turkish children living in Germany. N1 U n2 amounted to 593 asymptomatic and symptomatic carriers of 895 mutations (overlap of 73 cases with 134 mutations). p.Met694Val (45 %), p.Met680Ile (14 %), p.Val726Ala (12 %), and p.Glu148Gln (11.5 %) were the most common pyrin mutations.

Conclusions: Despite FMF being the most frequent of the HRFs, its incidence in Germany is low. Twenty-five to 50 FMF patients ≤ 16 years are newly diagnosed per year. The disease is most commonly observed in individuals of Turkish ancestry.

Citing Articles

Treat-to-target strategies for the management of familial Mediterranean Fever in children.

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Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.

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The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease.

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Chuamanochan M, Weller K, Feist E, Kallinich T, Maurer M, Kummerle-Deschner J World Allergy Organ J. 2019; 12(3):100019.

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