Novel diagnostic options for endometriosis - Based on the glycome and microbiome

Abstract

Background: Endometriosis is a chronic gynaecological disease whose aetiology is still unknown. Despite its prevalence among women of reproductive age, the pathology of the disease has not yet been elucidated and only symptomatic treatment is available. Endometriosis has high latency and diagnostic methods are both limited and invasive.

Aim of review: The aim of this review is to summarise minimally invasive or non-invasive diagnostic methods for endometriosis and their diagnostic efficiencies. Furthermore, we discuss the identification and diagnostic potential of novel disease biomarkers of microbial or glycan origin.

Key scientific concepts of review: Great efforts have been made to develop minimally invasive or non-invasive diagnostic methods in endometriosis. The problem with most potential biomarker candidates is that they have high accuracy only in cases of severe disease. Therefore, it is necessary to examine other potential biomarkers more closely. Associations between gastrointestinal and genital tract microbial health and endometriosis have been identified. For instance, irritable bowel syndrome is more common in women with endometriosis, and hormonal imbalance has a negative impact on the microbiome of both the genital tract and the gastrointestinal system. Further interrogation of these associations may have potential diagnostic significance and may identify novel therapeutic avenues. Glycomics may also be a potent source of biomarkers of endometriosis, with a number of glyco-biomarkers already approved by the FDA. Endometriosis-associated microbial and glycomic profiles may represent viable targets for development of innovative diagnostics in this debilitating disease.

Keywords: Biomarker candidates; Endometriosis; Genital microbiome; Glycan biomarker; Gut microbiome.

Graphical abstract

Fig. 1

Biomarker selection and validation approach. Clinical and analytical validation are distinct processes; however, these two parts of the validation process are connected.

Fig. 2

Summary of sample sources and potential biomarker candidates for endometriosis diagnosis that could replace highly accurate but invasive laparoscopic surgery. The presented promising minimally or non-invasive biomarker candidates' suitability as a potential replacement for laparoscopy diagnosis are questionable. A large pool of biomarker sources (blood, tissue, urine, stool, vaginal or cervical swabs) and a glycomic or microbiology approach open up further perspectives for identifying new candidates.