Ahmed Mohammed Hussien, El Henawy Omar, ElShennawy Eslam Mohamed, Mahros Aya Mohamed
Department of Hepatology, Gastroenterology, and Infectious Diseases, Faculty of Medicine, Kafrelsheikh University, Kafrelsheikh, Egypt.
Department of Clinical Pathology, Faculty of Medicine, Aswan University, Aswan, Egypt.
Prz Gastroenterol. 2022;17(3):240-244. doi: 10.5114/pg.2022.118595. Epub 2022 Aug 9.
Familial Mediterranean fever (FMF) is an autosomal recessive disease with an autoinflammatory nature. It affects mainly Turkish, Armenian, Arab, and Jewish people. The clinical presentation and the development of complication as amyloidosis. Early diagnosis and predilection of disease severity according to gene mutation facilitates adequate treatment and disease control.
To our knowledge, few studies were done to evaluate FMF in lower Egypt.
This is a prospective study that was carried out at Kafrelsheikh University Hospital Outpatient Clinic between March 2019 and February 2020. We recruited all patients who came to our outpatient clinic with symptoms suggestive of FMF (recurrent attacks of abdominal pain and fever), and diagnosis of FMF was confirmed by gene study. One hundred and nine patients were included; however, 9 patients refused to participate in the study, so final analysis was done for 100 patients only. Patients also underwent abdominal ultrasound examination for measurement of the spleen longitudinal diameter.
E148Q mutant allele was the most encountered mutation in our studied patients at Kafrelsheikh, with a frequency of 31%; the number of attacks was greater in patients with positive family history and in homozygous patients. Most patients required a dose between 1.5 and 3 mg/day.
Patients with positive family history and those with homozygous mutation have more attacks with greater severity and higher amyloid deposition. E148Q mutant allele was the most commonly encountered in the studied patients, with a frequency of 31%, followed by M6801 (G/A), which was associated with the highest amyloid A level.
家族性地中海热（FMF）是一种具有自身炎症性质的常染色体隐性疾病。它主要影响土耳其人、亚美尼亚人、阿拉伯人和犹太人。临床表现以及并发症如淀粉样变性的发展情况。根据基因突变进行早期诊断和疾病严重程度的预测有助于进行充分的治疗和疾病控制。
据我们所知，在埃及下埃及地区评估FMF的研究较少。
这是一项前瞻性研究，于2019年3月至2020年2月在卡夫尔谢赫大学医院门诊进行。我们招募了所有因疑似FMF症状（反复腹痛和发热）前来门诊的患者，并通过基因研究确诊FMF。共纳入109例患者；然而，9例患者拒绝参与研究，因此仅对100例患者进行了最终分析。患者还接受了腹部超声检查以测量脾脏纵径。
在我们卡夫尔谢赫的研究患者中，E148Q突变等位基因是最常见的突变，频率为3%;有家族史的患者和纯合子患者发作次数更多。大多数患者所需剂量为1.5至3毫克/天。
有家族史的患者和纯合子突变患者发作次数更多，病情更严重，淀粉样蛋白沉积更高。E148Q突变等位基因是研究患者中最常见的，频率为31%，其次是M6801（G/A），其与最高的淀粉样蛋白A水平相关。
