[Investigation of familial tendency of endometriosis].

Objective: To investigate the familial heritability of endometriosis and to compare the clinical characteristics of patients with or without a family history of endometriosis. Methods: From January 2020 to June 2022, 850 patients with endometriosis confirmed by laparotomy or laparoscopy in Peking University Third Hospital were included in this study. Clinical data were collected, family history was followed up, and the differences of clinical indicators between patients with and without family history of endometriosis were compared. Results: A total of 850 patients were enrolled, with an average age of (33.8±7.0) years old, 315 (37.1%, 315/850) patients in stage Ⅲ and 496 (58.4%, 496/850) patients in stage Ⅳ. There were 100 patients with family history of endometriosis, accounting for 11.8% (100/850). Most of the 113 relatives involved were mothers, daughters and sisters (76.1%, 86/113), 81.5% (22/27) of the second and third degree relatives were maternal relatives. The median ages of patients with and without family history of endometriosis were 30 and 33 years old respectively at the time of diagnosis. The unmarried rate of patients with family history was higher [42.0% (42/100) vs 26.3% (197/750)]. The percentage of dysmenorrhea patients with family history was higher [89.0% (89/100) vs 55.5% (416/750)]. The medians of dysmenorrhea score in patients with and without family history were 6 and 2, and the median durations of dysmenorrhea were 10 and 1 years. There were significant differences in age, marital status, percentage of dysmenorrhea, dysmenorrhea score and duration (all P<0.001). The median levels of serum cancer antigen (CA) 125 in patients with family history and patients without family history at the time of diagnosis were 57.5 and 46.9 kU/L respectively, with a statistically significant difference (P<0.05). However, there were no significant differences between the two groups in nationality, bady mass index, menarche age, menstrual cycle, menstrual period, menstrual volume, serum CA19-9 level, cyst location and size, stage, history of adverse pregnancy and childbirth, infertility, adenomyosis and deep infiltrating endometriosis (all P>0.05). By comparing the specific conditions of dysmenorrhea patients with and without family history of endometriosis, there were no significant differences between the two groups in terms of the age of onset of dysmenorrhea, duration of dysmenorrhea, primary and secondary dysmenorrhea, and progressive aggravation of dysmenorrhea (all P>0.05). The difference in the degree of dysmenorrhea in dysmenorrhea patients with family history of endometriosis was significant (P<0.001). Conclusions: The incidence of endometriosis has a familial tendency, and most of the involved relatives are the first degree relatives. Compared with patients without family history of endometriosis, endometriosis patients with family history are diagnosed at an earlier age, with higher percentage of dysmenorrhea, had more severe dysmenorrhea and higher serum CA125 level.目的： 调查子宫内膜异位症（内异症）发病的家族遗传特征，探讨有或无内异症家族史的内异症患者临床特征的差异。 方法： 回顾性分析自2020年1月至2022年6月于北京大学第三医院诊治且经开腹手术或腹腔镜检查证实为内异症的患者850例的临床资料，随访家族史情况，比较有或无内异症家族史的内异症患者各项临床指标有无差异。 结果： 入组内异症患者共850例，年龄为（33.8±7.0）岁；Ⅲ期（37.1%，315/850），Ⅳ期496例（58.4%，496/850）。有内异症家族史的患者100例，占比为11.8%（100/850）；多为一级亲属（包括母亲、女儿和姐妹）患病（76.1%，86/113），二级、三级亲属中有81.5%（22/27）为母系亲属。有或无内异症家族史的内异症患者诊断时的年龄中位数分别为30、33岁，有家族史患者的未婚比例更高［分别为42.0%（42/100）、26.3%（197/750）］，有家族史的患者中痛经患者占比更高［分别为89.0%（89/100）、55.5%（416/750）］，有或无家族史患者的痛经评分中位数分别为6、2分、痛经时长中位数分别为10、1年，有或无家族史患者诊断时的血清癌相关抗原（CA）125水平中位数分别为57.5、46.9 kU/L；比较有或无家族史患者的诊断时年龄、婚姻状态、痛经患者占比、痛经评分、痛经时长、血清CA125水平，差异均有统计学意义（P均<0.05）。而两者在民族、体重指数、初潮年龄、月经周期、经期、月经量、血清CA19-9水平、包块部位及大小、分期、不良孕产史、不孕症、子宫腺肌病及深部浸润型内异症方面均无显著差异（P均>0.05）。对比有或无家族史的内异症患者中痛经患者的痛经开始年龄、痛经时长、原发性及继发性痛经占比、有无痛经进行性加重均无显著差异（P均>0.05），而痛经程度两者比较，差异有统计学意义（P<0.001）。 结论： 内异症发病具有家族倾向，且多为一级亲属受累。与无内异症家族史的内异症患者对比，有家族史者诊断时的年龄更早，痛经患者占比更高，痛经程度更重，血清CA125水平更高。.