Department of Pediatrics A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
J Rheumatol. 2010 Apr;37(4):865-9. doi: 10.3899/jrheum.090687. Epub 2010 Mar 1.
Familial Mediterranean fever (FMF) is an inherited disease characterized by attacks of febrile polyserositis. In children, attacks of fever alone, or with headache and malaise, may precede other forms of attacks. Our objective was clinical and genetic characterization of FMF and its development in pediatric patients who first presented with attacks of fever alone.
Clinical characterization and MEFV genotype of all FMF patients < 16 years of age at disease onset and first presenting with attacks of fever alone were analyzed and compared for age, sex, and disease duration with matched FMF patients presenting with serositis at the onset of the disease.
There were 814 patients with FMF in our registry. Fifty patients formed the study group and 234 patients the control group. In the study group, the first (febrile) attacks appeared at a younger age than in the control group (1.7 +/- 1.6 yrs vs 5.0 +/- 4.1 yrs, respectively; p < 0.0001), diagnosis was made earlier (4.2 +/- 2.7 yrs vs 6.7 +/- 4.1 yrs; p < 0.0001), despite a trend for a longer delay in diagnosis. In the study group, attacks were shorter (1.6 +/- 0.8 days vs 2.1 +/- 1.0 days; p = 0.023) and homozygosity to the M694V mutation was more prevalent (46% vs 31%; p = 0.03). Attack rate, colchicine dose, and the MEFV mutation carrier rates were comparable between the groups. In 40/50 (80%) of the patients with fever alone, serositis had developed over a course of 2.9 +/- 2.2 years after disease onset.
FMF in young children may begin with attacks of fever alone, but it progresses to typical FMF disease over the next 2.9 +/- 2.2 years. Our study demonstrates that clinical heterogeneity at presentation is more likely to indicate a feature of a disease in development, rather than to mark distinct phenotypes of FMF.
家族性地中海热（FMF）是一种遗传性疾病，其特征为发热性多浆膜炎发作。在儿童中，发热性发作，或伴有头痛和不适，可能先于其他形式的发作。我们的目的是对首次以单纯发热性发作表现的儿科患者进行 FMF 的临床和遗传特征及其发病情况进行研究。
分析和比较了所有在发病年龄<16 岁且首次表现为单纯发热性发作的 FMF 患者的临床特征和 MEFV 基因型，并与发病时出现浆膜炎的 FMF 患者相匹配。
在我们的登记处有 814 名 FMF 患者。50 名患者组成研究组，234 名患者组成对照组。在研究组中，首次（发热性）发作的年龄比对照组小（1.7 +/- 1.6 岁 vs 5.0 +/- 4.1 岁，p < 0.0001），诊断时间更早（4.2 +/- 2.7 岁 vs 6.7 +/- 4.1 岁，p < 0.0001），尽管诊断时间有延迟的趋势。在研究组中，发作时间更短（1.6 +/- 0.8 天 vs 2.1 +/- 1.0 天，p = 0.023），且 M694V 突变纯合子的发生率更高（46% vs 31%，p = 0.03）。两组间的发作频率、秋水仙碱剂量和 MEFV 突变携带者率均无差异。在 50 例单纯发热的患者中，40 例（80%）在发病后 2.9 +/- 2.2 年内发展为浆膜炎。
儿童期的 FMF 可能首先表现为单纯发热性发作，但在接下来的 2.9 +/- 2.2 年内会发展为典型的 FMF 疾病。我们的研究表明，首发时的临床异质性更可能表明疾病的发展特征，而不是标志着 FMF 的不同表型。
