一个典型的家族性地中海热的战争幸存者与创伤后应激障碍的高加索血统与标准秋水仙碱治疗

R. Sethi, F. Khan, Mohammad Foorquan Hashmi, Marlyn Susan George
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摘要

目的:本文报道了一例罕见的FMF病例,其不典型表现为持续7天的发热发作,主要表现在战争后。通常,FMF发作持续3-4天,但我们患者的不寻常表现导致最初误诊为创伤后应激障碍(PTSD)。患者和方法:一位38岁的亚美尼亚前士兵参加了与阿塞拜疆长达44天的战争,他表现出反复发烧的症状,胸部和腹部疼痛仅在左侧疑病症区、腰椎和腹股沟区突出。实验室检查变化不显著。各种诊断测试,如x光、CT和MRI,都没有结论。结果:5年后MEFV基因分子基因检测阳性,确诊。患者给予秋水仙碱1 mg/kg/天,减轻了发作的严重程度和频率。结论:FMF的不典型表现为持续发热达7天,无家族史,战后创伤,仅左侧疼痛,可排除FMF的鉴别诊断。当他的血液分析显示急性期反应物在7天后恢复正常时,怀疑FMF。他开始接受秋水仙碱治疗,并显示出积极的反应,导致诊断为FMF。MEFV基因检测阳性证实了诊断。临床医生不应排除未出现3至4天典型发热发作期的患者发生FMF的可能性。
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A Typical Case of Familial Mediterranean fever in a War Survivor with Post-Traumatic Stress Disorder of Caucasian Descent Treated with Standard Colchicine Therapy
Objective: A rare case of FMF with atypical presentation of fever attacks lasting 7 days predominantly evident after the war has been described. Usually, the FMF bouts last for 3-4 days but the unusual presentation of our patient led to the initial misdiagnosis of PTSD (Post traumatic stress disorder). Patient and Method: A case of a 38-year-old former Armenian soldier who participated in a 44-day long war with Azerbaijan showing symptoms of recurrent fever, thoracic and abdominal pain predominant only on the left hypochondriac, lumbar and inguinal region. The changes in the laboratory examination were not significant. A wide range of diagnostic tests like X-Ray, CT, and MRI performed all of which were inconclusive. Result: The diagnosis was confirmed after 5 years by positive molecular genetic testing for the MEFV gene. The patient was given colchicine 1 mg/kg/day which reduced the severity and frequency of attacks. Conclusion: The atypical presentation of FMF with prolonged fever lasting up to 7 days, no familial history, post-war trauma, and pain only on the left side led to the differential diagnosis excluding FMF.FMF was suspected when his blood analysis showed acute phase reactants returned to normal after the 7-day attack period. He was started on colchicine therapy and showed a positive response which led to the diagnosis of FMF. The positive MEFV genetic testing confirmed the diagnosis. Clinicians should not exclude the possibility of FMF in patients who do not show the classic fever attack period of 3 to 4 days.
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