Pediatric Rheumatology Unit, Department of Pediatrics, "G. D'Annunzio" University of Chieti, Chieti, Italy.
Pediatric Clinic - Department of Pediatrics, "G. D'Annunzio" University of Chieti, Chieti, Italy.
Clin Rheumatol. 2024 Dec;43(12):3983-3992. doi: 10.1007/s10067-024-07207-9. Epub 2024 Oct 29.
Although familial Mediterranean fever (FMF) is a relevant disease in countries surrounding the Mediterranean Sea, there are still few reports from Italy.
We retrospectively evaluated patients with FMF diagnosed according to the EuroFever/PRINTO classification criteria in three pediatric rheumatology referral centers in central-southern Italy. Logistic regression analysis assessed the associations between age at disease onset and symptoms.
Overall, 48 patients were enrolled (28 females, 20 males), with a median age at onset of 3.3 [3.1] years, and a median follow-up period of 5.1 [10.8] years. The most common MEFV genotype was M694V/- (11 patients, 22.9%), followed by M694V/M694V (6 patients, 12.5%). At onset, recurrent fever was observed in 47 patients (97.9%), with a median time between attacks of 18 [11] days. Overall, recurrent fever was observed in all patients, abdominal pain in 44 (91.7%), and chest pain in 18 (37.5%). At the last follow-up visit, 24 patients were on colchicine (50%), 2 on biologic (4.2%), and 6 on both (12.5%). Canakinumab was the most used biologic drug, in 6 (12.5%) patients. MEFV genotype was associated with disease severity (p = 0.007) and the use of a biological drug (p = 0.01). FMF prevalence in the Abruzzo region was found highly than expected (at least 1:45,000). Differently, we found a relevant gap among FMF patients expected and observed in the Apulia and Sicily regions.
FMF is a relevant issue in central-southern Italy. A large epidemiologic study should be performed to better define its prevalence in the country. Key Points • Italian children with familial Mediterranean fever tend to have an early age of onset, primarily manifesting with recurrent fever and characteristic associated symptoms. • Many MEFV gene variants are present in Italian children with familial Mediterranean fever, and these patients are most often heterozygous, exhibiting a mild to moderate phenotype. • The prevalence of familial Mediterranean fever in Italy is still unknown but recently estimated to be around 1:60,000, probably higher in central and southern Italy. • According to our cohort, the prevalence of FMF in the Abruzzo region is at least 1:45,000, higher than expected. Differently, we found lower prevalence rates of the disease in Apulia and Sicily.
尽管家族性地中海热（FMF）是地中海地区国家的一种相关疾病，但意大利的相关报告仍然较少。
我们在意大利中南部的三个儿科风湿病转诊中心回顾性评估了根据 EuroFever/PRINTO 分类标准诊断为 FMF 的患者。逻辑回归分析评估了疾病发作年龄与症状之间的关联。
共有 48 名患者入组（28 名女性，20 名男性），发病年龄中位数为 3.3[3.1]岁，中位随访时间为 5.1[10.8]年。最常见的 MEFV 基因型是 M694V/-（11 例，22.9%），其次是 M694V/M694V（6 例，12.5%）。在发病时，47 名患者（97.9%）出现复发性发热，发作之间的中位时间为 18[11]天。总体而言，所有患者均出现复发性发热，44 名（91.7%）患者出现腹痛，18 名（37.5%）患者出现胸痛。在最后一次随访时，24 名患者服用秋水仙碱（50%），2 名患者服用生物制剂（4.2%），6 名患者同时服用（12.5%）。卡那单抗是使用最多的生物药物，有 6 名（12.5%）患者使用。MEFV 基因型与疾病严重程度相关（p=0.007），与使用生物制剂相关（p=0.01）。阿布鲁佐地区的 FMF 患病率明显高于预期（至少为 1:45,000）。相比之下，我们发现普利亚和西西里地区 FMF 患者的预期患病率和实际患病率之间存在较大差距。
FMF 是意大利中南部的一个重要问题。应进行大规模的流行病学研究，以更好地确定该国的患病率。
关键点
• 意大利儿童的家族性地中海热发病年龄较早，主要表现为复发性发热和特征性相关症状。
• 意大利儿童的家族性地中海热存在多种 MEFV 基因突变，这些患者多为杂合子，表现为轻度至中度表型。
• 意大利家族性地中海热的患病率仍不清楚，但最近估计约为 1:60,000，在意大利中南部可能更高。
• 根据我们的队列研究，阿布鲁佐地区的 FMF 患病率至少为 1:45,000，高于预期。相比之下，我们发现普利亚和西西里地区的 FMF 患病率较低。
