A Surgeon's Perspective on Diagnosis

In medicine, the first step in patient care is to establish the diagnosis. This is the key to identifying the correct management for the presenting problems. Classically, medical students are taught this is done by gaining an understanding of the problem by taking a detailed history of the condition, followed by patient examination with directed specialist investigations (1). This is called ‘pattern recognition fit' – where symptoms and signs are identified and compared to previous patterns/cases, and a disease is recognized when the actual pattern fits (2). Endometriosis may have various patterns of presentation which overlap with other diseases (see Chapter 2), but the severity of symptoms does not appear to correlate with the severity of the disease identified; hence, endometriosis is an ‘enigmatic' disease (3). Given that the disease is defined pathologically by the presence of endometrial-like glands and stroma, by definition, the gold standard for diagnosis can only be histopathologically by direct visualization and possible biopsy and histological confirmation: the ‘diagnostic laparoscopy' (4–10). In clinical practice, given the problems associated with surgery for a diagnosis, a non-invasive test for diagnosis is one of the priorities in endometriosis research (11). Still, a detailed history, beyond simply that of cyclical pelvic pain is critical for an accurate analysis of the problem (12). And if the history is found to correlate with the disease identified, then treatment success may be more predictable. Equally as a benign condition, it is actually the symptoms and their impact on quality of life that define management more than the disease itself (13) and, therefore, needs to be carefully and thoroughly assessed at that first visit. Pattern recognition should still lead the clinician to a differential diagnosis (see Chapter 2) of which endometriosis may then be assessed as a possible and important cause of the woman's illness (14,15). Combined with abdominal and pelvic examination, this may raise or, in certain circumstances, confirm suspicions of endometriosis (16). It may also give a risk assessment as to the possible type of endometriosis and disease location (17). The role of the investigation is usually to review the differential and, in doing so, answer a specific clinical question raised. This will then allow a focused analysis of the investigation results to improve the test accuracy. Also, are the patient's presenting symptoms caused by endometriosis that has been identified? The actual presence or absence of endometriosis alone will not answer this question, but correlation with the pattern of symptoms is a predictor of treatment outcome (18).