The pain of endometriosis – making a diagnosis (Part 1)

In the previous installment of this essay, we described in detail why endometriosis happens, why one has the symptoms associated with it and the different types of symptoms that normally accompanies the diagnosis of endometriosis. In this section, we shall tackle how we make a diagnosis for this disease, and further how one can establish fairly certainly if they have a high likelihood of having endometriosis. Like all medical conditions, the diagnosis of endometriosis follows the well-established routine of history taking, physical diagnosis, and ordering targeted tests that can either rule in, rule out or confirm the diagnosis of the condition. One key element of its nature is pain, wherever it may occur, coming during the menses. The pain of endometriosis may come a week or two weeks before the onset of the menses, become severe during the menses and wane after the period, only to repeat its course in subsequent cycles. The key here is the cyclicity of the pain with respect to the menses. As mentioned in the previous instalment, the severity of the pain has little to do with the stage (severity) of the disease. A patient with endometriosis will therefore have cyclical pain. The nature, location and associated symptoms of this pain would largely depend on the sites of the implanted endometriotic implants within the pelvis. If the endometriotic lesions (diseased areas or spots from endometriosis) are only limited to the pelvic side walls, one is likely to have generalized lower abdominal and or pelvic period pain, and painful intercourse. If the endometriotic implants seed onto the bowel one is likely to have bloating, constipation, diarrhoea, painful defaecation, bleeding with bowel motions and in worst cases, bowel obstruction. When the implants are seeded into the vagina and cervix, extreme pain with intercourse, bleeding with intercourse or after a period are the commonest symptoms. Whereas the above symptoms may suggest endometriosis, they are not by themselves diagnostic of the condition. Endometriosis shares similar symptoms with other diseases. It is however important that when one has a combination of the following symptoms, one can be 80% certain that they do have endometriosis. These symptoms are, chronic lower abdominal pain, cyclical period pain, painful intercourse and pain with defaecation. The existence of this combination of symptoms in one individual should prompt one to seek immediate medical help. Cyclical pain in the belly button, abdominal wall, chest, legs, bones, shoulders and the like carries the same weight as period pains in the diagnosis of endometriosis. When one is preparing for a visit to their doctor, one is advised to pay particular attention to the relationship of the pain to their menses. Secondly, to pay attention to associated symptoms that come around the same time with the pains. The medical doctor would need this information to link the symptoms with the menses and hence narrow the causes of the pain to among others, endometriosis. Considering the debility associated with endometriosis, one can think that patients would have a fast-tracked medical diagnosis. However, sadly this is not so. The range of time between the patient presenting at a doctor’s room to the time of diagnosis is a whopping 3-12yrs. Majority of women will have a medical diagnosis of endometriosis after 5-8yrs of seeing doctors. Usually they may have seen several doctors including specialists. This scenario is not one to be proud of as a doctor, but there are reasons, real reasons why it happens. First, most patients are started on pain killers to contain the pain which must be assumed to be endometriosis albeit without a definitive diagnosis. When this does not help one is likely to have been started on the oral contraceptive pill, some progestins such as depo provera, mirena coil, or the transdermal implants in a bid to control the pain. Throughout this time, while a definite diagnosis of endometriosis would not have been made, the treatment of endometriosis would have been already commenced, although it is usually ineffective. It is only when this fails that a definitive diagnosis of endometriosis would be sought by the doctor, often requiring invasive procedure. The other reason that no doctor would be proud of is that the mix of symptoms and their perceived severity may downplay endometriosis as a cause of the pain. In this case a doctor is more likely to chase other diagnoses other than endometriosis, inadvertently extending the time between first contact and diagnosis. Assuming that what is common is common, most patients with endometriosis would have gone through a lot of medications for sexually transmitted infections before proper treatment would follow. This, by far is the commonest reasons why delay in diagnosis happen, as endometriosis shares some of its symptoms with sexually transmitted infections. It is important as a result, that women who have been given multiple doses of combination antibiotics for persistent abdominal and pelvic pain, should seek referral to other doctors in the referral chain in order to expedite diagnosis and containment of their symptoms. Vaginal Scan A simple and common test for endometriosis is a vaginal scan. A routine vaginal scan would show a chocolate cyst (ovarian cyst full of menstrual blood) when present. If this cyst is found, the doctor would look for endometriotic nodules elsewhere in the pelvis as the presence of this means one has a 30% chance of having a nodule. One of the easiest find on a transvaginal scan is adenomyosis. This is endometriosis affecting the uterine muscle. This type of endometriosis is associated with debilitating period pains and infertility. Other than this, a routine vaginal ultrasound scan would not be that much helpful. It would be obvious during the scan, however, that the patient can barely hold the vaginal probe in their vagina owing to pain. Endometriosis Mapping A more advanced form of vaginal scan for deep infiltrating endometriosis exists. This detailed scan is called endometriosis survey or endometriosis mapping. Whereas routine vaginal ultrasound scanning places the vaginal probe on the cervix, in endometriosis mapping scanning is done below the cervix. This sort of scan, would pick vaginal nodules, bowel nodules, nodules on the uterine ligaments, cementing of tissues behind the uterus and inform the doctor if the window behind the uterus is obliterated by disease or not before the operation is done. Further, it tests the mobility of the uterus and the ovaries. Endometriosis mapping reduces time to proper surgical management, reduces the number of diagnostic and interventional operations a patient would have, and affords a multidiscipline team to co-manage the patient from the outset, saving the patient both finances and time and reducing the risks of multiple operations. This type of scan has the down side of being expensive to the patient and time consuming on the part of the sonographer. An empty rectum is required for this scan, and so one may be asked to take an enema before endometriosis mapping. In good hands and with a quality scan, endometriosis mapping may pick up to 90% of deep infiltrating endometriosis when present. Barium Enema (sepeiti) Another test that may be done to diagnose endometriosis is the barium enema (sepeiti). This would involve emptying the contents of an enema into the rectum followed by taking X-rays. The objective of this test is to find if there are endometriotic nodules in the large bowel that may have caused enough scarring as to distort the normal caliber of the bowel. One is more likely to have this test done where their symptoms are associated with diarrhea, incomplete rectal emptying, constipation and bleeding with bowel motions. Colonoscopy Colonoscopy involves passing a camera into the large bowel up to the junction of the large and small bowel. This test can also be done in cases of bowel related symptoms of endometriosis including bleeding during bowel motions. Its advantage over a barium enema is its ability to take a biopsy (sample) of the lesion (diseased area) to confirm a diagnosis before the operation can be done. MRI scan Advanced testing with an MRI scan is possible in selected cases. An MRI scan is capable of detecting smaller endometriotic nodules in the bowel, bladder and uterine ligaments. It is great at picking endometriosis of the womb(adenomyosis). Like other investigations it can only pick large areas of fibrosis occasioned by endometriosis. A negative result does not rule out minimal and mild disease. The down side of this investigation is the considerable cost to the patient. MRI and examination under anaesthesia Another important investigation is examination under anaesthesia. This involves doing a digital vaginal and rectal examination while the patient is sleeping under the influence of anaesthetic agents. The benefit of examination under anaesthesia is that the patient’s vaginal and pelvic muscles would be relaxed allowing thorough exploration of the vaginal wall, the pelvis, the bowel, uterine ligaments, assessment of the mobility of the uterus and ovaries. It also gives detailed information as to whether the window behind the uterus has been obliterated by this destructive disease. A study comparing the ability of different tests to pick up endometriosis when present, comparing ordinary vaginal scan, a rectal scan, sigmoidoscopy (camera up the rectum and stopping only in the sigmoid colon), MRI and examination under anaesthesia found that the best tool for diagnosis was the use of the old digital vaginal examination under anaesthesia. The down side to this mode of investigation is that one has to incur theatre fees and a day hospital bed fee, making it more expensive. It is possible however, that digital examination under anaesthesia may be offered in the outpatient setting in clinics with a procedure room and availability of an anaesthetist or nurse anaesthetist. Only in this setup is digital examination under anaesthesia cost effective. It is noteworthy that the normal digital examination without anaesthesia has its uses, but falls short of defining the extent of the spread of endometriosis in the pelvis thereby limiting holistic planning for the operation where different specialists may be required to co-operate on the management of the patient. Diagnostic Laparoscopy The definitive test for endometriosis remains diagnostic laparoscopy. This is an operation through a key-hole in which the patient is not opened in the usual way. At laparoscopy 2-5 holes, wide enough to fit a pen are made on the tummy. The gynaecologist then gains access into the abdominal and pelvic cavities through these holes. A tiny camera is then inserted at the belly button which then becomes the eye of the surgeon through which he would then search for endometriosis in the pelvic cavity. A biopsy of the endometriotic lesions would be required to make a definite diagnosis. Without a biopsy, diagnostic laparoscopy over-diagnose endometriosis in up to 50% of patients, leading to unnecessary treatment for a condition that is none existent. A diagnostic laparoscopy is valuable in defining the extent of the disease, the organs affected, and planning for the next stage in the treatment phase. It facilitates referral to a specialist surgeon and informs the kind of team that need to be assembled to tackle the menace that is endometriosis. It however pales in significance in terms of cost savings, when compared to endometriosis mapping scan. As seen earlier, endometriosis mapping allows for a diagnosis of severe deep infiltrating endometriosis, defines the extent of disease, defines the team mixture of surgeons required to tackle the disease from the outset, cutting unnecessary diagnostic laparoscopic surgery. In the diagnosis of endometriosis, diagnostic laparoscopy has its place in non-deep infiltrating endometriosis which is the domain mostly of minimal, mild to moderate disease. *In the next instalment, we will discuss treatment options for endometriosis and evaluate their effectiveness. Dr Vincent G Molelekwa is Obstetrician, Gynaecologist, Fertility Specialist, Endoscopic Surgeon, Gaborone Fertility Clinic