Clues to revising the conventional diagnostic algorithm for endometriosis.
anamnesis
biomarkers
clinical examination
endometriosis diagnosis
magnetic resonance imaging
ultrasound
Journal
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
ISSN: 1879-3479
Titre abrégé: Int J Gynaecol Obstet
Pays: United States
ID NLM: 0210174
Informations de publication
Date de publication:
20 Aug 2024
20 Aug 2024
Historique:
revised:
03
06
2024
received:
04
01
2024
accepted:
20
07
2024
medline:
20
8
2024
pubmed:
20
8
2024
entrez:
20
8
2024
Statut:
aheadofprint
Résumé
Endometriosis is a complex gynecologic disorder characterized primarily by symptoms of pelvic pain, infertility, and altered quality of life. National and international guidelines highlight the diagnostic difficulties and lack of conclusive diagnostic tools for endometriosis. Furthermore, guidelines are becoming questionable at an increasingly rapid rate as new diagnostic techniques emerge. This work aims to provide a knowledge synthesis of the relevance of various diagnostic tools and to assess areas of improvement of conventional algorithms. MEDLINE and Cochrane Library databases were searched from January 2021 to December 2023 using relevant key words. Articles evaluating the diagnostic relevance and performance of various tools were included and independently reviewed by the authors for eligibility. Included studies were assessed using the GRADE and QUADAS-2 tools. Of the 4204 retrieved articles, 26 were included. While anamnesis and clinical examination do contribute to diagnostic accuracy, their level of evidence and impact on the diagnostic process remains limited. Although imaging techniques are recommended to investigate endometriosis, ultrasonography remains highly operator dependent. Magnetic resonance imaging appears to exhibit higher sensitivities than ultrasound. However, concerns persist with regards to the terminology, anatomical definition of lesions, and accuracies of both ultrasound and magnetic resonance imaging. Recently, several biological markers have been studied and cumulative evidence supports the contribution of noncoding RNAs to the diagnosis of endometriosis. Marginal improvements have been suggested for anamnesis, clinical examination, and imaging examinations. Conversely, some biomarkers, including the saliva microRNA signature for endometriosis, have emerged as diagnostic tools which inspire reflection on the revision of conventional diagnostic algorithms.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 International Federation of Gynecology and Obstetrics.
Références
Zondervan KT, Becker CM, Missmer SA. Endometriosis. N Engl J Med. 2020;382(13):1244‐1256. doi:10.1056/NEJMra1810764
Brandes I, Kleine‐Budde K, Heinze N, et al. Cross‐sectional study for derivation of a cut‐off value for identification of an early versus delayed diagnosis of endometriosis based on analytical and descriptive research methods. BMC Womens Health. 2022;22,1(1):521. doi:10.1186/s12905-022-02044-x
Becker CM, Bokor A, Heikinheimo O, et al. ESHRE guideline: endometriosis. Human Reprod Open. 2022;2022(2):hoac009. doi:10.1093/hropen/hoac009
Kuznetsov L, Dworzynski K, Davies M, Overton C, Guideline Committee. Diagnosis and management of endometriosis: summary of NICE guidance. BMJ (Clinical Rresearch Eed). 2017;358:j3935. doi:10.1136/bmj.j3935
Haute Autorité de Santé (HAS). College Nationale de Gynécologues et Obstétriciens Français (CNGOF). Prise en charge de l'endométriose. https://www.has‐sante.fr/upload/docs/application/pdf/2018‐01/prise_en_charge_de_lendiometriose_‐_messages_cles_destines_au_medecin_generaliste.pdf
Lei Y, du X, Chen D, Gao Y, Lian H. Quality evaluation of endometriosis guidelines using AGREE II. Medicine. 2022;101(43):e31331. doi:10.1097/MD.0000000000031331
Nisenblat V, Bossuyt PMM, Farquhar C, Johnson N, Hull ML, Cochrane Gynaecology and Fertility Group. Imaging modalities for the non‐invasive diagnosis of endometriosis. The Cochrane Database of Systematic Reviews. 2016;2:CD009591. doi:10.1002/14651858.CD009591.pub2
Pascoal E, Wessels JM, Aas‐Eng MK, et al. Strengths and limitations of diagnostic tools for endometriosis and relevance in diagnostic test accuracy research. Ultrasound Obstetrics Ggynecol. 2022;60(3):309‐327. doi:10.1002/uog.24892
Pereira A, Herrero‐Trujillano M, Vaquero G, et al. Clinical Management of Chronic Pelvic Pain in endometriosis unresponsive to conventional therapy. J Personal Med. 2022;12(1):101. doi:10.3390/jpm12010101
I Chuang. The dynamism of clinical knowledge. How Can we Meet clinicians' Knowledge Needs in a Rapidly Evolving Medical World? Elsevier Clinical Solutions. 2021. https://www.elsevier.com/connect/the‐dynamism‐of‐clinical‐knowledge
Tricco AC, Antony J, Zarin W, et al. A scoping review of rapid review methods. BMC Med. 2015;13:224. doi:10.1186/s12916-015-0465-6
Schünemann HJ, Oxman AD, Brozek J, et al. Grading quality of evidence and strength of recommendations for diagnostic tests and strategies. BMJ (Clinical Rresearch Eed). 2008;336(7653):1106‐1110. doi:10.1136/bmj.39500.677199.AE
Atkins D, Best D, Briss PA, et al. Grading quality of evidence and strength of recommendations. BMJ (Clinical Rresearch Eed). 2004;328(7454):1490. doi:10.1136/bmj.328.7454.1490
Whiting PF et al. QUADAS‐2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann Intern Med. 2011;155(8):529‐536. doi:10.7326/0003-4819-155-8-201110180-00009
Cumpston M, Li T, Page MJ, et al. Updated guidance for trusted systematic reviews: a new edition of the Cochrane handbook for systematic reviews of interventions. The Cochrane Database of Systematic Reviews. 2019;10(10):ED000142. doi:10.1002/14651858.ED000142
Baker A, Young K, Potter J, Madan I. A review of grading systems for evidence‐based guidelines produced by medical specialties. Clini Med. 2010;10(4):358‐363. doi:10.7861/clinmedicine.10-4-358
Tempest N, Hill CJ, Whelan A, et al. Symptomatology and serum nuclear magnetic resonance metabolomics; do they predict endometriosis in fertile women undergoing laparoscopic sterilisation? A prospective cross‐sectional study. Reprod Sci. 2021;28(12):3480‐3490. doi:10.1007/s43032-021-00725-w
Shafrir AL, Wise LA, Palmer JR, et al. Validity of self‐reported endometriosis: a comparison across four cohorts. Hum Reprod. 2021;36(5):1268‐1278. doi:10.1093/humrep/deab012
Bendifallah S, Puchar A, Suisse S, et al. Machine learning algorithms as new screening approach for patients with endometriosis. Sci Rep. 2022;12:639. doi:10.1038/s41598-021-04637-2
Chapron C, Lafay‐Pillet M‐C, Santulli P, et al. A new validated screening method for endometriosis diagnosis based on patient questionnaires. EClinicalMedicine. 2022;44:101263. doi:10.1016/j.eclinm.2021.101263
Singh B, Berry J, Volovsky M, et al. The utility and impact of the painful periods screening tool (PPST) to improve healthcare delivery for people with symptoms of pelvic pain. Reprod Sci. 2023;30(5):1676‐1683. doi:10.1007/s43032-022-01119-2
Roditis A, Florin M, Rousset P, et al. Accuracy of combined physical examination, transvaginal ultrasonography, and magnetic resonance imaging to diagnose deep endometriosis. Fertil Steril. 2023;119(4):634‐643. doi:10.1016/j.fertnstert.2022.12.025
Abrao MS, Andres MP, Gingold JA, et al. Preoperative ultrasound scoring of endometriosis by AAGL 2021 endometriosis classification is concordant with laparoscopic surgical findings and distinguishes early from advanced stages. J Minim Invasive Gynecol. 2023;30(5):363‐373. doi:10.1016/j.jmig.2022.11.003
Martire FG, Russo C, Selntigia A, et al. Early noninvasive diagnosis of endometriosis: dysmenorrhea and specific ultrasound findings are important indicators in young women. Fertil Steril. 2023;119(3):455‐464. doi:10.1016/j.fertnstert.2022.12.004
Ros C, de Guirior C, Mension E, et al. Transvaginal ultrasound for diagnosis of deep endometriosis involving uterosacral ligaments, torus uterinus and posterior vaginal fornix: prospective study. Ultrasound Obstetrics Ggynecol. 2021;58(6):926‐932. doi:10.1002/uog.23696
Goncalves MO, Siufi Neto J, Andres MP, Siufi D, de Mattos LA, Abrao MS. Systematic evaluation of endometriosis by transvaginal ultrasound can accurately replace diagnostic laparoscopy, mainly for deep and ovarian endometriosis. Hum Reprod. 2021;36(6):1492‐1500. doi:10.1093/humrep/deab085
Leonardi M, Rocha R, Tun‐Ismail AN, Robledo KP, Armour M, Condous G. Assessing the knowledge of endometriosis diagnostic tools in a large, international lay population: an online survey. BJOG. 2021;128(13):2084‐2090. doi:10.1111/1471-0528.16865
Bailey F, Gaughran J, Mitchell S, Ovadia C, Holland TK. Diagnosis of superficial endometriosis on transvaginal ultrasound by visualization of peritoneum of pouch of Douglas. Ultrasound Obstet Gynecol. 2024;63(1):105‐112. doi:10.1002/uog.27529
Bazot M, Daraï E, Benagiano GP, et al. ENDO_STAGE magnetic resonance imaging: classification to screen endometriosis. J Clin Med. 2022;11(9):2443. doi:10.3390/jcm11092443
Rousset P, Florin M, Bharwani N, et al. Deep pelvic infiltrating endometriosis: MRI consensus lexicon and compartment‐based approach from the ENDOVALIRM group. Diagn Interv Imaging. 2023;104(3):95‐112. doi:10.1016/j.diii.2022.09.004
Bendifallah S, Dabi Y, Suisse S, et al. MicroRNome analysis generates a blood‐based signature for endometriosis. Sci Rep. 2022;12(1):4051. doi:10.1038/s41598-022-07771-7
Bendifallah S, Suisse S, Puchar A, et al. Salivary MicroRNA signature for diagnosis of endometriosis. J Clin Med. 2022;11(3):612. doi:10.3390/jcm11030612
Bendifallah S, Dabi Y, Suisse S, Delbos L,, Spiers A,, Poilblanc M,, Golfier F,, Jornea L,, Bouteiller D,, Fernandez H,, Madar A,, Petit E,, Perotte F,, Fauvet R,, Benjoar M,, Akladios C,, Lavoué V,, Darnaud T,, Merlot B,, Roman H, … Descamps P. Validation of a salivary miRNA signature of endometriosis ‐ interim data. NEJM Evidence [Internet]. 2023;2(7):EVIDoa2200282. doi:10.1056/EVIDoa2200282
Lin C, Zeng S, Li M. miR‐424‐5p combined with miR‐17‐5p has high diagnostic efficacy for endometriosis. Arch Gynecol Obstet. 2023;307(1):169‐177. doi:10.1007/s00404-022-06492-6
Shan S, Yang Y, Jiang J, et al. Extracellular vesicle‐derived long non‐coding RNA as circulating biomarkers for endometriosis. Reprod Biomed Online. 2022;44(5):923‐933. doi:10.1016/j.rbmo.2021.11.019
Svensson A, Roth B, Kronvall L, Ohlsson B. TSH receptor antibodies (TRAb) ‐ a potential new biomarker for endometriosis. Eur J Obstet Gynecol Reprod Biol. 2022;278:115‐121. doi:10.1016/j.ejogrb.2022.09.013
Sasamoto N, Ngo L, Vitonis AF, et al. Plasma proteomic profiles of pain subtypes in adolescents and young adults with endometriosis. Hum Reprod. 2023;38(8):1509‐1519. doi:10.1093/humrep/dead099
Višnić A, Barišić D, Jurešić GČ, Klarić M, & Šepić TS. Concentration of total proteins in urine as a non‐invasive biomarker of endometriosis. JBRA Assist Reprod. 2023;27(4):624‐628. Advance online publication. https://doi.org/10.5935/1518‐0557.20230028
Janša V, Pušić Novak M, Ban Frangež H, Rižner TL. TGFBI as a candidate biomarker for non‐invasive diagnosis of early‐stage endometriosis. Hum Reprod. 2023;38(7):1284‐1296. doi:10.1093/humrep/dead091
Pan HY, Wan J. Serum HSF1 is upregulated in endometriosis patients and serves as a potential diagnostic biomarker. Kaohsiung J Med Sci. 2023;39(10):1045‐1051. doi:10.1002/kjm2.12723
She J, Su D, Diao R, Wang L. A joint model of random Forest and artificial neural network for the diagnosis of endometriosis. Front Genet. 2022;13:848116. doi:10.3389/fgene.2022.848116
Huang L, Liu B, Liu Z, et al. Gut microbiota exceeds cervical microbiota for early diagnosis of endometriosis. Front Cell Infect Microbiol. 2021;11:788836. doi:10.3389/fcimb.2021.788836
Allaire C, Bedaiwy MA, Yong PJ. Diagnosis and management of endometriosis. CMAJ. 2023;195(10):E363‐E371. doi:10.1503/cmaj.220637
Csákvári T, Pónusz‐Kovács D, Kajos LF, et al. Prevalence and annual health insurance cost of endometriosis in Hungary‐a Nationwide study based on routinely collected, real‐world health insurance claims data. Healthcare (Basel, Switzerland). 2023;11(10):1448. doi:10.3390/healthcare11101448
Ilschner S, Neeman T, Parker M, Phillips C. Communicating endometriosis pain in France and Australia: an interview study. Front Global Women's Health. 2022;3:765762. doi:10.3389/fgwh.2022.765762
Arena A, Degli Esposti E, Orsini B, et al. Endometriosis in the time of internet: how web navigation affects women with endometriosis. Ann Med. 2023;55(1):2215537. doi:10.1080/07853890.2023.2215537
Fernandez H, Agostini A, Baffet H, et al. Update on the management of endometriosis‐associated pain in France. Journal of Gynecology Obstetrics and Human Reproduction. 2023;52(9):102664. doi:10.1016/j.jogoh.2023.102664
Quesada J, Härmä K, Reid S, et al. Endometriosis: A multimodal imaging review. Eur J Radiol. 2023;158:110610. doi:10.1016/j.ejrad.2022.110610
Saunders PTK, Horne AW. Endometriosis: etiology, pathobiology, and therapeutic prospects. Cell. 2021;184(11):2807‐2824. doi:10.1016/j.cell.2021.04.041
Koninckx PR, Oosterlynck D, D'Hooghe T, Meuleman C. Deeply infiltrating endometriosis is a disease whereas mild endometriosis could be considered a non‐disease. Ann N Y Acad Sci. 1994;734:333‐341. doi:10.1111/j.1749-6632.1994.tb21763.x
Pedrassani M, Guerriero S, Pascual MÁ, et al. Superficial endometriosis at ultrasound examination‐a diagnostic criteria proposal. Diagnostics (Basel, Switzerland). 2023;13(11):1876. doi:10.3390/diagnostics13111876
Djokovic D, Pinto P, van Herendael BJ, Laganà AS, Thomas V, Keckstein J. Structured report for dynamic ultrasonography in patients with suspected or known endometriosis: recommendations of the International Society for Gynecologic Endoscopy (ISGE). Eur J Obstet Gynecol Reprod Biol. 2021;263:252‐260. doi:10.1016/j.ejogrb.2021.06.035
Zhou Y, Su Y, Liu H, Wu H, Xu J, Dong F. Accuracy of transvaginal ultrasound for diagnosis of deep infiltrating endometriosis in the uterosacral ligaments: systematic review and meta‐analysis. Journal of Gynecology Obstetrics and Human Reproduction. 2021;50(3):101953. doi:10.1016/j.jogoh.2020.101953
Maple S, Chalmers KJ, Bezak E, Henry K, Parange N. Ultrasound characteristics and scanning techniques of uterosacral ligaments for the diagnosis of endometriosis: a systematic review. J Ultrasound Med. 2023;42(6):1193‐1209. doi:10.1002/jum.16129
Thomassin‐Naggara I, Monroc M, Chauveau B, et al. Multicenter external validation of the deep pelvic endometriosis index magnetic resonance imaging score. JAMA Netw Open. 2023;6(5):e2311686. doi:10.1001/jamanetworkopen.2023.11686
Gerges B, Li W, Leonardi M, Mol BW, Condous G. Meta‐analysis and systematic review to determine the optimal imaging modality for the detection of uterosacral ligaments/torus uterinus, rectovaginal septum and vaginal deep endometriosis. Human Reprod Open. 2021;4:hoab041. doi:10.1093/hropen/hoab041
Howard FM. An evidence‐based medicine approach to the treatment of endometriosis‐associated chronic pelvic pain: placebo‐controlled studies. J Am Assoc Gynecol Laparosc. 2000;7(4):477‐488. doi:10.1016/s1074-3804(05)60360-x
Guo S‐W. Recurrence of endometriosis and its control. Hum Reprod Update. 2009;15(4):441‐461. doi:10.1093/humupd/dmp007
Brown J, Crawford TJ, Allen C, Hopewell S, Prentice A, Cochrane Gynaecology and Fertility Group. Nonsteroidal anti‐inflammatory drugs for pain in women with endometriosis. The Cochrane Database of Systematic Reviews. 2017;1(1):CD004753. doi:10.1002/14651858.CD004753.pub4
Ahn SH, Singh V, Tayade C. Biomarkers in endometriosis: challenges and opportunities. Fertil Steril. 2017;107(3):523‐532. doi:10.1016/j.fertnstert.2017.01.009
Sims OT, Gupta J, Missmer SA, Aninye IO. Stigma and endometriosis: a brief overview and recommendations to improve psychosocial well‐being and diagnostic delay. Int J Environ Res Public Health. 2021;18(15):8210. doi:10.3390/ijerph18158210
Eisenberg VH, Weil C, Chodick G, Shalev V. Epidemiology of endometriosis: a large population‐based database study from a healthcare provider with 2 million members. BJOG. 2018;125(1):55‐62. doi:10.1111/1471-0528.14711
Mahini SM, Younesi M, Mortazavi G, et al. Non‐invasive diagnosis of endometriosis: immunologic and genetic markers. Clinica Chimica Acta; Intern J Clini Chem. 2023;538:70‐86. doi:10.1016/j.cca.2022.11.013
Chen Q, Jiao Y, Yin Z, et al. Establishment of a novel glycolysis‐immune‐related diagnosis gene signature for endometriosis by machine learning. J Assist Reprod Genet. 2023;40(5):1147‐1161. doi:10.1007/s10815-023-02769-0
Wang X, Zhao X, Wang J, et al. Cross‐talk between N6‐Methyladenosine and their related RNAs defined a signature and confirmed m6A regulators for diagnosis of endometriosis. Int J Mol Sci. 2023;24(2):1665. doi:10.3390/ijms24021665
Vanhie A, Peterse D, Beckers A, et al. Plasma miRNAs as biomarkers for endometriosis. Hum Reprod. 2019;34(9):1650‐1660. doi:10.1093/humrep/dez116
Moustafa S, Burn M, Mamillapalli R, Nematian S, Flores V, Taylor HS. Accurate diagnosis of endometriosis using serum microRNAs. Am J Obstet Gynecol. 2020;223(4):557.e1‐557.e11. doi:10.1016/j.ajog.2020.02.050
Monnaka VU et al. Overview of miRNAs for the Non‐invasive Diagnosis of Endometriosis: Evidence, Challenges and Strategies. A Systematic Review. Einstein (Sao Paulo, Brazil). 2021;19:eRW5704. doi:10.31744/einstein_journal/2021RW5704
Ghasemi F, Alemzadeh E, Allahqoli L, et al. MicroRNAs dysregulation as potential biomarkers for early diagnosis of endometriosis. Biomedicine. 2022;10(10):2558. doi:10.3390/biomedicines10102558
Ferrier C, Bendifallah S, Suisse S, et al. Saliva microRNA signature to diagnose endometriosis: a cost‐effectiveness evaluation of the Endotest®. BJOG. 2023;130(4):396‐406. doi:10.1111/1471-0528.17348