Malek Abdolreza, Zeraati Tina, Sadr-Nabavi Ariane, Vakili Niloofar, Abbaszadegan Mohammad Reza
Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Case Rep Rheumatol. 2022 Feb 7;2022:8334375. doi: 10.1155/2022/8334375. eCollection 2022.
Familial Mediterranean fever (FMF) typically presents with recurrent attacks of fever and serosal inflammation with peritoneum, pleura, and synovium. We usually do not expect pericardial involvement at the early stages. FMF is an autoinflammatory disease, usually inherited with an autosomal recessive pattern. The patients typically have biallelic mutations in the MEFV gene, located on chromosome 16. Colchicine is the first-line treatment of FMF, which not only plays a crucial prophylactic role regarding the attack episodes, but also prevents amyloidosis. Colchicine resistance and intolerance in FMF patients have been rarely reported. Alternative anti-inflammatory agents are understood to be helpful in such cases. We describe a 13-year-old boy referred to our pediatric department complaining of chest pain, dyspnea, and tachycardia. Due to the massive pericardial and pleural effusion, a pericardiocentesis was performed, and a chest tube was inserted. Cardiac tamponade was considered as the initial diagnosis. After a month, he faced another episode of pleuritic chest pain, fever, tachycardia, and pleural and pericardial effusion. Evaluation for probable differential diagnoses including infection, malignancy, and collagen vascular disease showed no remarkable results. Finally, the mutation found by whole exome sequencing was confirmed by direct Sanger sequencing revealing a heterozygote c.44G > C (p.Glu148Gln) mutation in exon 2, confirming the clinical diagnosis of familial Mediterranean fever. Since he seemed to be nonresponsive to the maximum standard dose of colchicine, 100 mg of daily dapsone was added to his treatment regimen, which controlled the attack episodes well. FMF, while rarely initiated with cardiac manifestation, should be considered in patients with any early signs and symptoms of cardiovascular involvement.
家族性地中海热（FMF）通常表现为发热以及腹膜、胸膜和滑膜浆膜炎症的反复发作。在疾病早期，我们通常不会预期会出现心包受累情况。FMF是一种自身炎症性疾病，通常以常染色体隐性模式遗传。患者通常在位于16号染色体上的MEFV基因存在双等位基因突变。秋水仙碱是FMF的一线治疗药物，它不仅对发作期具有关键的预防作用，还能预防淀粉样变性。关于FMF患者秋水仙碱耐药和不耐受的情况鲜有报道。据了解，在这类病例中使用其他抗炎药物会有帮助。我们描述了一名13岁男孩，他因胸痛、呼吸困难和心动过速被转诊至我们的儿科。由于大量心包和胸腔积液，进行了心包穿刺，并插入了胸管。最初诊断为心脏压塞。一个月后，他再次出现胸膜炎性胸痛、发热、心动过速以及胸膜和心包积液。对包括感染、恶性肿瘤和胶原血管病等可能的鉴别诊断评估未得出显著结果。最后，通过全外显子组测序发现的突变经直接桑格测序得以确认，显示外显子2存在杂合子c.44G＞C（p.Glu148Gln）突变，从而确诊为家族性地中海热。由于他似乎对最大标准剂量的秋水仙碱无反应，遂在其治疗方案中添加了每日100毫克的氨苯砜，这很好地控制了发作期。FMF虽然很少以心脏表现起病，但对于有任何心血管受累早期体征和症状的患者都应予以考虑。
