{"paper_id":"d3661ac7-2265-4c3e-bea9-e3796e7a0a5d","body_text":"British Journal of General Practice, February 2015  101\nDiagnosing endometriosis in  \nprimary care: \nclinical update\nJennifer L Johnston, Helen Reid and David Hunter\nClinical Intelligence\nINTRODUCTION\nPrompt diagnosis of endometriosis is a \nclinical imperative for general practice. \nWomen with endometriosis typically face a \ndiagnostic delay of 7–10 years, despite more \nfrequent GP and accident and emergency \nattendances than women without the \ndisease.\n1,2  Endometriosis has a relatively \nhigh prevalence (up to 10% of women in \nthe general UK population and up to 50% of \ninfertile women) and causes high morbidity \nin terms of both pain and infertility.\n2  \nDespite this, the condition remains poorly \nrecognised in practice, meaning that \npatients must often navigate misdiagnosis \nand suboptimal care. While there have been \nrecent significant advances in the evidence \nregarding pathogenesis and management, \nthis literature is largely directed towards \na secondary care audience. We present \nkey issues below from a primary care \nperspective.\nReasONs fOR DIagNOsTIC Delay \nDiversity of presenting symptoms, overlap \nwith benign conditions, and a low index of \nsuspicion in both primary and secondary \ncare all contribute to women with \nendometriosis falling between the cracks. \nOther contributors include cultural attitudes \nnormalising painful menstruation, a lack of \nclinician awareness of updated guidelines \non distinguishing normal from pathological, \nand concern over the invasive nature of \nlaparoscopy.\n1,2  Paradoxically, while women \npresenting with multiple symptoms are \nmore likely to have endometriosis, 2  frequent \nattendance with disparate symptoms may \nmake diagnosis less likely, as patients \nare dismissed as having a functional or \npsychosomatic cause.\n1 \nReCOgNIsINg eNDOmeTRIOsIs\nEndometriosis is a chronic inflammatory \ncondition, in which deposits of ectopic \nendometrial-type tissue cause cyclical \nbleeding, scarring, and adhesion formation \nthroughout the pelvis and sometimes \nbeyond. Symptoms begin as early as \nadolescence and typically settle after \nmenopause. There appears to be a genetic \nlink, with many women reporting a first-\ndegree relative with the disease.\n1\nCardinal symptoms are dysmenorrhoea, \ndyspareunia, and chronic (non-menstrual) \npelvic pain. Bowel symptoms (painful \ndefaecation or irritable bowel-type \ndysfunction) are common, even in the \nabsence of overt bowel involvement. Back \npain, fatigue, bladder symptoms (two-\nthirds have associated interstitial cystitis) \nand abnormal bleeding (heavy menstrual \nbleeding, pre-menstrual spotting, or \npostcoital bleeding) are also commonly \nreported. Pelvic pain that comes on \nbefore the onset of bleeding raises the \nlevel of clinical concern. Presentation may \nbe esoteric: any symptom which reliably \nworsens with the menstrual cycle should \nprompt consideration of the diagnosis.\n2,3\nAssociated conditions include atopic and \nautoimmune disorders, inflammatory bowel \ndisease, and interstitial cystitis. There is also \nan increased risk of ovarian carcinoma.\n3\nPRaCTICe POINTs: hIsTORy, \nexamINaTION, aND INvesTIgaTION\nWomen with endometriosis attend the \nGP more frequently, offering crucial \nopportunities for diagnosis.\n2  In women \npresenting in primary care, a careful history \nis essential and will often suggest the \ndiagnosis. Importantly, morbidity does not \nnecessarily correlate with severity; women \nwith minimal disease at laparoscopy may be \nhighly symptomatic, and vice versa. \n• Ask specifically about menarche, \nhistory of menstrual difficulties, details \nof pregnancies, and any difficulties with \nconception. \n• Ask also about dysmenorrhoea, \ndyspareunia, pelvic pain throughout the \ncycle, and cyclical bowel and bladder \nsymptoms. \nJennifer l Johnston,  MPhil, MRCGP, academic \nGP; helen Reid, BM BCh, MPhil, academic \nGP, Queen’s University, Belfast. David hunter, \nMD, MRCOG, consultant gynaecologist, Belfast \nHealth and Social Care Trust, Belfast.\naddress for correspondence\nJennifer l Johnston, Department of General \nPractice Queen’s University Belfast, 1 Dunluce \nAvenue, Belfast, BT9 7HR.\ne-mail: j.l.johnston@qub.ac.uk\nsubmitted: 6 Oct 2014; editor’s response:   \n4 Nov 2014; final acceptance: 23 Dec 2014.\n©British Journal of general Practice 2015; \n65: 101–102.\nDOI: 10.3399/bjgp15x683665\n\n• Consider asking women presenting \nprimarily with irritable bowel syndrome \n(IBS) symptoms about their menstrual \nhistory.\nExamination findings such as pain, \nvaginal nodules, or adnexal masses support \na clinical suspicion of endometriosis, but \na normal examination does not rule out \nendometriosis.\n2 \nPrimary care investigations such as \nultrasound or CA-125 are not reliable \nindicators of the presence or absence \nof disease. Patients with suspected \nendometriosis should be referred to a \nspecialist for consideration of laparoscopy. \nWomen should ideally be referred to a \ntertiary endometriosis centre where \navailable, or to a surgeon with a special \ninterest where it is not.\n2,3\n \nDIagNOsTIC PITfalls\nPrompt diagnosis ensures appropriate \ncare. Clinical suspicion should prompt \nreferral. Empirical management with the \ncontraceptive pill is common practice in \nprimary care. Periods can often effectively \nbe eliminated by continuous use of \neither a combined pill (running packets \nback to back), or a progesterone-only \npill that reliably suppresses ovulation, \nsuch as desogestrel (Cerazette\n® , MSD). \nThis offers a useful and practical way to \ncontrol symptoms, but should not prevent \nor delay referral for definitive diagnosis.\n2  \nOn the other hand, empirical treatment \nthat may offer symptomatic relief does not \nneed to be withheld while awaiting surgical \nconfirmation of disease. 4  \nWomen with severe endometriosis \nshould be referred to a specialist \nmultidisciplinary centre. This ensures \naccess to gynaecologists, bowel surgeons, \nand urologists skilled in laparoscopic \nmanagement, as well as specialist nurses, \npsychology services, and an active network \nof support groups.\n4  \nContrary to traditional teaching, \nendometriosis does occur in adolescents \nand younger women. Indeed, it has \nbeen reported that most women with \nendometriosis first experienced symptoms \nin their teens.\n1  Although this group are \noften highly symptomatic, diagnosis may \nbe delayed by a cultural belief among both \ndoctors and patients that painful periods in \nthis age group are normal.\n5  \n• Ask about the impact of pain on normal \nactivity, and have a high index of suspicion \nwhere pain is debilitating or regularly \nassociated with vomiting. \n• Age should not be a factor in deciding \nwhether to refer.\nBowel and bladder symptoms are easily \nmissed. Women with endometriosis are \nmore likely to be diagnosed with IBS, and \nthis may represent a missed diagnosis \nrather than comorbidity. Other common \npitfalls are a misdiagnosis of ovarian cyst \nor pelvic inflammatory disease. Women \npresenting with multiple symptoms over \ntime are at higher risk of endometriosis.\n2  \nHave a high index of suspicion and a holistic \napproach in approaching such patients.\nCONClUsION  \nLong diagnostic delays, misdiagnoses, and \nsubsequent inappropriate management \nmean that women with endometriosis are \noften being failed by healthcare services. \nGPs are in a strong position to advocate \nfor this underserved group of patients. \nAwareness of common presentations, a \nhigh index of clinical suspicion, and early \nreferral should help improve awareness of \nthis common and debilitating illness.\nProvenance\nFreely submitted; externally peer reviewed. \nCompeting interests\nThe authors have declared no competing \ninterests. \nDiscuss this article\nContribute and read comments about this \narticle: bjgp.org/letters\nRefeReNCes\n1. Ballard K, Lowton K, Wright J. What’s \nthe delay? A qualitative study of women’s \nexperiences of reaching a diagnosis of \nendometriosis. Fertil Steril  2006; 86(5): \n1296–1301.\n2. Dunselman GAJ, Vermeulen N, Becker C, et \nal . ESHRE guideline: management of women \nwith endometriosis. Hum Reprod 2014; 29(3): \n400–412.\n3. Hickey M, Ballard K, Farquhar C. \nEndometriosis. \nBMJ 2014; 348: g1752. \n4. Johnson NP, Hummelshoj L; World \nEndometriosis Society Montpellier \nConsortium. Consensus on current \nmanagement of endometriosis. \nHum Reprod  \n2013; 28(6): 1552–1568.\n5. Hudelist G, Fritzer N, Thomas A, et al . \nDiagnostic delay for endometriosis in \nAustria and Germany: causes and possible \nconsequences. \nHum Reprod  2012; 27(12): \n3412–3416.\n102  British Journal of General Practice, February 2015","source_license":"CC0","license_restricted":false}