Department of Biomedical Sciences & Human Oncology, University "Aldo Moro" of Bari Medical School, Bari, Italy.
Gastrointestinal Endoscopy, "Umberto I" Hospital, Altamura, Bari, Italy.
Eur J Clin Invest. 2017 Sep;47(9):622-629. doi: 10.1111/eci.12783. Epub 2017 Aug 2.
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterised by recurrent attacks of fever and serositis (peritonitis, pleuritic or synovitis) affecting mainly populations of Mediterranean origin.
To describe a relatively new cluster of FMF subjects from Apulia and Basilicata regions (southern Italy).
Subjects were screened for FMF using the Tel-Hashomer criteria and genetic analysis. Demographic data were taken from patients' files and direct interviews. Patients were investigated about attack duration, intensity and site, body temperature, skin manifestations and overall quality of life before and after treatment with colchicine. Inflammatory parameters were also measured between these periods.
Forty-nine subjects had FMF (M : F = 26 : 23, age 38 years ± 2 SE) and followed-up up to 8 years. The age at disease onset was 22·1 years ± 1·2SE and the diagnostic delay was 15·5 years ± 1·9SE. The majority of patients (82%) suffered from abdominal pain, and 35% had undergone prior abdominal surgery or laparotomy. Severity score (ISSF) was mild in 43% of patients and intermediate in 57% of patients. Serum amyloid A (SAA) was increased in 20% of patients (16·9 ± 3·7, normal range < 6·4 mg/dL). In over 95% of patients, inflammation markers, duration and intensity of febrile painful attacks, quality of life and ISSF score improved dramatically following colchicine treatment.
The Apulia region represents a new endemic area for FMF. Clinical presentation of FMF can be misleading and requires a complete and early workup to recognise the disease and avoid unjustified surgery. Colchicine remains the gold standard therapy to prevent FMF attacks and fatal long-term complications.
家族性地中海热（FMF）是一种常染色体隐性自身炎症性疾病，其特征是反复发作的发热和浆膜炎（腹膜炎、胸膜炎或滑膜炎），主要影响地中海地区人群。
描述来自意大利南部普利亚和巴西利卡塔地区（意大利南部）的一个相对较新的 FMF 患者群体。
使用特拉维夫-哈希莫尔标准和基因分析对患者进行 FMF 筛查。从患者档案和直接访谈中获取人口统计学数据。在接受秋水仙碱治疗前后，对患者的发作持续时间、强度和部位、体温、皮肤表现和整体生活质量进行调查。在这些时期之间还测量了炎症参数。
49 名患者患有 FMF（M：F=26：23，年龄 38 岁±2 SE），随访时间长达 8 年。疾病发病年龄为 22.1 岁±1.2 SE，诊断延迟 15.5 岁±1.9 SE。大多数患者（82%）患有腹痛，35%的患者曾接受过腹部手术或剖腹手术。严重程度评分（ISSF）在 43%的患者中为轻度，在 57%的患者中为中度。20%的患者血清淀粉样蛋白 A（SAA）升高（16.9±3.7，正常范围<6.4mg/dL）。在超过 95%的患者中，在接受秋水仙碱治疗后，炎症标志物、发热性疼痛发作的持续时间和强度、生活质量和 ISSF 评分显著改善。
普利亚地区是 FMF 的一个新的地方性流行区。FMF 的临床表现可能具有误导性，需要进行全面和早期的检查，以识别疾病并避免不必要的手术。秋水仙碱仍然是预防 FMF 发作和致命性长期并发症的金标准治疗方法。
