轻度子宫内膜异位症诊断的研究进展

doi:10.12280/gjszjk.20210610

摘要/Abstract

摘要：

子宫内膜异位症（endometriosis,EMs）是一种常见的妇科疾病,可导致盆腔疼痛和不孕。轻度EMs（Ⅰ~Ⅱ期）约占EMs的80%,其病灶常为腹膜型/浅表型,常规的超声检查常无阳性发现。患者早期症状和体征隐匿,缺乏可应用于临床的特异性生物标志物,导致大部分轻度EMs患者诊断及治疗延迟,发展成中重度EMs,因此轻度EMs的早期诊断面临着巨大挑战。腹腔镜检查是诊断EMs的金标准,但腹腔镜费用高且为有创检查,不适用于筛查。近年来,越来越多的诊断方法相继被提出,如临床症状、体征、生物标志物、影像学的组合模型,为轻度EMs的诊断提供了新的思路。这些方法展现了对轻度EMs的诊断潜力,但仍需提高诊断效能和扩大样本量进一步验证。集合临床特征、妇科检查和生物标志物等组合可能成为准确诊断轻度EMs的解决方案。

关键词: 子宫内膜异位症, 早期诊断, 诊断, 生物标记, 模型

Abstract:

Endometriosis (EMs) is a common gynecological disease that causes pelvic pain and infertility. Minimal/mild EMs (rAFs stage Ⅰ-Ⅱ) accounts for about 80% of EMs, and its lesions are usually peritoneal or superficial with the negative ultrasound findings. Because minimal/mild EMs lacks specific symptoms, imaging findings and biomarkers, most of them were delayed in the diagnosis and treatment which always lead to the moderate/severe EMs. Therefore, the early diagnosis of minimal/mild EMs is still a great challenge. Laparoscopy combined with pathology is currently the gold standard. However, it is an invasive and costly procedure with potential risks for patients, suggesting that it is not suitable for the screening for early EMs. In recent years, more and more less-invasive methods have been proposed, such as a model combined with clinical symptoms, signs, biomarkers and imaging, which provide a new idea for the early diagnosis of minimal/mild EMs. Although these methods show the promising potential in the diagnosis of minimal/mild EMs, further validation with large sample size and better diagnostic performance is still needed. The combination of clinical signs, pelvic examination and biomarkers may be the solution for the diagnosis of minimal/mild EMs.

Key words: Endometriosis, Early diagnosis, Diagnosis, Biomarkers, Model

张婕, 王菁, 侯振, 冒韵东. 轻度子宫内膜异位症诊断的研究进展[J]. 国际生殖健康/计划生育, 2022, 41(2): 151-155.

ZHANG Jie, WANG Jing, HOU Zhen, MAO Yun-dong. Research Progress of the Diagnosis of Minimal/Mild Endometriosis[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(2): 151-155.

参考文献 35

[1]	Zondervan KT, Becker CM, Missmer SA. Endometriosis[J]. N Engl J Med, 2020, 382(13):1244-1256. doi: 10.1056/NEJMra1810764. doi: 10.1056/NEJMra1810764 URL
[2]	Pirtea P, de Ziegler D, Ayoubi JM. Effects of endometriosis on assisted reproductive technology: gone with the wind[J]. Fertil Steril, 2021, 115(2):321-322. doi: 10.1016/j.fertnstert.2020.08.1431. doi: 10.1016/j.fertnstert.2020.08.1431 pmid: 33039125
[3]	Whitaker L, Doust A, Stephen J, et al. Laparoscopic treatment of isolated superficial peritoneal endometriosis for managing chronic pelvic pain in women: study protocol for a randomised controlled feasibility trial (ESPriT1)[J]. Pilot Feasibility Stud, 2021, 7(1):19. doi: 10.1186/s40814-020-00740-9. doi: 10.1186/s40814-020-00740-9 pmid: 33413677
[4]	Reis FM, Santulli P, Marcellin L, et al. Superficial Peritoneal Endometriosis: Clinical Characteristics of 203 Confirmed Cases and 1292 Endometriosis-Free Controls[J]. Reprod Sci, 2020, 27(1):309-315. doi: 10.1007/s43032-019-00028-1. doi: 10.1007/s43032-019-00028-1 URL
[5]	Pessoa de Farias Rodrigues M, Lima Vilarino F, de Souza Barbeiro Munhoz A, et al. Clinical aspects and the quality of life among women with endometriosis and infertility: a cross-sectional study[J]. BMC Womens Health, 2020, 20(1):124. doi: 10.1186/s12905-020-00987-7. doi: 10.1186/s12905-020-00987-7 pmid: 32532273
[6]	阿米娜古丽·买买提托合提, 米娜瓦尔·麦丁, 高桂芹. 青春期子宫内膜异位症临床特点及诊治进展[J]. 国际生殖健康/计划生育杂志, 2019, 38(2):170-176. doi: 10.3969/j.issn.1674-1889. 2019.02.020. doi: 10.3969/j.issn.1674-1889. 2019.02.020
[7]	Sinaii N, Plumb K, Cotton L, et al. Differences in characteristics among 1,000 women with endometriosis based on extent of disease[J]. Fertil Steril, 2008, 89(3):538-545. doi: 10.1016/j.fertnstert.2007.03.069. doi: 10.1016/j.fertnstert.2007.03.069 pmid: 17498711
[8]	Yu H, Li B, Li T, et al. Combination of noninvasive methods in diagnosis of infertile women with minimal or mild endometriosis, a retrospective study in China[J]. Medicine(Baltimore), 2019, 98(31):e16695. doi: 10.1097/MD.0000000000016695. doi: 10.1097/MD.0000000000016695
[9]	van Poll M, van Barneveld E, Aerts L, et al. Endometriosis and Sexual Quality of Life[J]. Sex Med, 2020, 8(3):532-544. doi: 10.1016/j.esxm.2020.06.004. doi: 10.1016/j.esxm.2020.06.004
[10]	Guo Z, Feng P, Chen X, et al. Developing Preoperative Nomograms to Predict Any-Stage and Stage III-IV Endometriosis in Infertile Women[J]. Front Med (Lausanne), 2020, 7:570483. doi: 10.3389/fmed.2020.570483. doi: 10.3389/fmed.2020.570483
[11]	Ouazana M, Kerbage Y, Chauvet P, et al. Prophylactic procedures associated with gynecological surgery for the management of superficial endometriosis and adhesions. Clinical practice guidelines from the French College of Gynecologists and Obstetricians (CNGOF)?[J]. J Gynecol Obstet Hum Reprod, 2021, 50(10):102206. doi: 10.1016/j.jogoh.2021.102206. doi: 10.1016/j.jogoh.2021.102206 URL
[12]	Santulli P, Lamau MC, Marcellin L, et al. Endometriosis-related infertility: ovarian endometrioma per se is not associated with presentation for infertility[J]. Hum Reprod, 2016, 31(8):1765-1775. doi: 10.1093/humrep/dew093. doi: 10.1093/humrep/dew093 URL
[13]	Meuleman C, Vandenabeele B, Fieuws S, et al. High prevalence of endometriosis in infertile women with normal ovulation and normospermic partners[J]. Fertil Steril, 2009, 92(1):68-74. doi: 10.1016/j.fertnstert.2008.04.056. doi: 10.1016/j.fertnstert.2008.04.056 URL
[14]	Chowdary P, Stone K, Ma T, et al. Multicentre retrospective study to assess diagnostic accuracy of ultrasound for superficial endometriosis-Are we any closer?[J]. Aust N Z J Obstet Gynaecol, 2019, 59(2):279-284. doi: 10.1111/ajo.12911. doi: 10.1111/ajo.12911 URL
[15]	Nisenblat V, Bossuyt PM, Shaikh R, et al. Blood biomarkers for the non-invasive diagnosis of endometriosis[J]. Cochrane Database Syst Rev, 2016, 2016(5):CD012179. doi: 10.1002/14651858.CD012179. doi: 10.1002/14651858.CD012179
[16]	Kimber-Trojnar Ż, Pilszyk A, Niebrzydowska M, et al. The Potential of Non-Invasive Biomarkers for Early Diagnosis of Asymptomatic Patients with Endometriosis[J]. J Clin Med, 2021, 10(13):2762. doi: 10.3390/jcm10132762. doi: 10.3390/jcm10132762 URL
[17]	Martínez S, Garrido N, Coperias JL, et al. Serum interleukin-6 levels are elevated in women with minimal-mild endometriosis[J]. Hum Reprod, 2007, 22(3):836-842. doi: 10.1093/humrep/del419. doi: 10.1093/humrep/del419 pmid: 17062580
[18]	Tang T, Lai H, Huang X, et al. Application of serum markers in diagnosis and staging of ovarian endometriosis[J]. J Obstet Gynaecol Res, 2021, 47(4):1441-1450. doi: 10.1111/jog.14654. doi: 10.1111/jog.14654 URL
[19]	Kokot I, Piwowar A, Jędryka M, et al. Diagnostic Significance of Selected Serum Inflammatory Markers in Women with Advanced Endometriosis[J]. Int J Mol Sci, 2021, 22(5):2295. doi: 10.3390/ijms22052295. doi: 10.3390/ijms22052295 URL
[20]	Thubert T, Santulli P, Marcellin L, et al. Measurement of hs-CRP is irrelevant to diagnose and stage endometriosis: prospective study of 834 patients[J]. Am J Obstet Gynecol, 2014, 210(6):533.e1-533.e10. doi: 10.1016/j.ajog.2014.01.022. doi: 10.1016/j.ajog.2014.01.022
[21]	Vodolazkaia A, Yesilyurt BT, Kyama CM, et al. Vascular endothelial growth factor pathway in endometriosis: genetic variants and plasma biomarkers[J]. Fertil Steril, 2016, 105(4):988-996. doi: 10.1016/j.fertnstert.2015.12.016. doi: 10.1016/j.fertnstert.2015.12.016 pmid: 26773192
[22]	Babah OA, Ojewunmi OO, Osuntoki AA, et al. Genetic polymorphisms of Vascular Endothelial Growth Factor (VEGF) associated with endometriosis in Nigerian women[J]. Hum Genomics, 2021, 15(1):64. doi: 10.1186/s40246-021-00364-x. doi: 10.1186/s40246-021-00364-x URL
[23]	Anastasiu CV, Moga MA, Elena Neculau A, et al. Biomarkers for the Noninvasive Diagnosis of Endometriosis: State of the Art and Future Perspectives[J]. Int J Mol Sci, 2020, 21(5):1750. doi: 10.3390/ijms21051750. doi: 10.3390/ijms21051750 URL
[24]	Filipchiuk C, Laganà AS, Beteli R, et al. BIRC5/Survivin Expression as a Non-Invasive Biomarker of Endometriosis[J]. Diagnostics (Basel), 2020, 10(8):533. doi: 10.3390/diagnostics10080533. doi: 10.3390/diagnostics10080533
[25]	Rekker K, Saare M, Roost AM, et al. Circulating miR-200-family micro-RNAs have altered plasma levels in patients with endometriosis and vary with blood collection time[J]. Fertil Steril, 2015, 104(4):938-946.e2.
[26]	Haikalis ME, Wessels JM, Leyland NA, et al. MicroRNA expression pattern differs depending on endometriosis lesion type[J]. Biol Reprod, 2018, 98(5):623-633. doi: 10.1093/biolre/ioy019. doi: 10.1093/biolre/ioy019 pmid: 29385395
[27]	Liu H, Lang JH. Is abnormal eutopic endometrium the cause of endometriosis? The role of eutopic endometrium in pathogenesis of endometriosis [J]. Med Sci Monit, 2011, 17(4):Ra92-99.
[28]	Bokor A, Kyama CM, Vercruysse L, et al. Density of small diameter sensory nerve fibres in endometrium: a semi-invasive diagnostic test for minimal to mild endometriosis[J]. Hum Reprod, 2009, 24(12):3025-3032. doi: 10.1093/humrep/dep283. doi: 10.1093/humrep/dep283 URL
[29]	Li J, Guan L, Zhang H, et al. Endometrium metabolomic profiling reveals potential biomarkers for diagnosis of endometriosis at minimal-mild stages[J]. Reprod Biol Endocrinol, 2018, 16(1):42. doi: 10.1186/s12958-018-0360-z. doi: 10.1186/s12958-018-0360-z URL
[30]	Foti PV, Farina R, Palmucci S, et al. Endometriosis: clinical features, MR imaging findings and pathologic correlation[J]. Insights Imaging, 2018, 9(2):149-172. doi: 10.1007/s13244-017-0591-0. doi: 10.1007/s13244-017-0591-0 URL
[31]	Gui B, Valentini AL, Ninivaggi V, et al. Deep pelvic endometriosis: don′t forget round ligaments. Review of anatomy, clinical characteristics, and MR imaging features[J]. Abdom Imaging, 2014, 39(3):622-632. doi: 10.1007/s00261-014-0091-3. doi: 10.1007/s00261-014-0091-3 URL
[32]	Mihalyi A, Gevaert O, Kyama CM, et al. Non-invasive diagnosis of endometriosis based on a combined analysis of six plasma biomarkers[J]. Hum Reprod, 2010, 25(3):654-664. doi: 10.1093/humrep/dep425. doi: 10.1093/humrep/dep425 URL
[33]	Vodolazkaia A, El-Aalamat Y, Popovic D, et al. Evaluation of a panel of 28 biomarkers for the non-invasive diagnosis of endometriosis[J]. Hum Reprod, 2012, 27(9):2698-2711. doi: 10.1093/humrep/des234. doi: 10.1093/humrep/des234 URL
[34]	Vanhie A, O D, Peterse D, et al. Plasma miRNAs as biomarkers for endometriosis[J]. Hum Reprod, 2019, 34(9):1650-1660. doi: 10.1093/humrep/dez116. doi: 10.1093/humrep/dez116
[35]	Gajbhiye R, Bendigeri T, Ghuge A, et al. Panel of Autoimmune Markers for Noninvasive Diagnosis of Minimal-Mild Endometriosis[J]. Reprod Sci, 2017, 24(3):413-420. doi: 10.1177/1933719116657190. doi: 10.1177/1933719116657190 pmid: 27485360