Familial Mediterranean fever in the pediatric population

Abstract

Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disorder characterized by short, repeated, and self-limiting crises of fever and serositis. The disease was described as autosomal recessive hereditary transmission secondary to variants of the MEFV (MEditerranean FeVer) gene, even though a variable proportion of patients only present a heterozygous variant. FMF is very common in certain ethnic groups (Turkish, Armenian, Arab, and Jewish), even though it has been described throughout the Mediterranean and elsewhere in the world. The clinical manifestations are variable, with secondary amyloidosis being the most serious complication of the disorder. Treatment and prophylaxis are mainly based on the administration of colchicine, which prevents the crises and avoids complications in most cases. This study reviews the course of seven pediatric patients diagnosed with FMF during the period 2010–2018 at a district hospital. Most of the patients were of Caucasian origin, with onset at an early age in the form of fever as the main symptom, and some patients moreover presented less frequent manifestations (pericardial effusion, sensorineural hearing loss). Two cases presented plasmatic amyloid A protein elevation that subsided with the treatment. All the patients initially received colchicine, and one of them required prescription of anakinra, which was replaced by canakinumab due to a serious adverse reaction. There were no cases of consanguinity, and all the patients were of Mediterranean origin. The subjects showed a favorable course over the years, which was attributed to the early diagnosis and treatment provided.

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

“…Although estimating the worldwide prevalence of MEFV mutations is difficult, a meta-analysis of the genetic population of FMF in 14 different affected Mediterranean populations described the mean overall carrier rate as 0.186 [45]. Different mutations, such as M694V, E148Q, K695R, and M680I, have been described in the Spanish population with FMF [16,19,22]. Hence, a greater number of admissions could be expected in the provinces where the M694V mutation was more prevalent.…”

“…Aldea et al, who studied FMF in a cohort of 55 patients with the objective of ascertaining their clinical and genetic characteristics, described a carrier frequency of 2.5% and a prevalence of 1: 60,000-120,000 [19]. In addition, isolated cases of patients with FMF have been reported in different regions of Spain [15,[20][21][22].…”