The etiology of endometriosis is only partially understood. Endometriosis has an inherited component and is essentially dependent on the presence of estrogen. There are several theories explaining the mechanism of the events leading to the development of endometriosis, all supported by scientific evidence. The pathogenesis of the disease may involve several of these mechanisms, and the different endometriosis subtypes may have different mechanism of origin. Endometriosis research is complicated by the lack of practical experimental models. As a consequence, most research is carried out using primary tissue and cell culture models based on samples from voluntary patients. The amount of sample material available is limited, and thus, co-ordinated collaboration is needed between the hospital practicing endometriosis surgery and the research laboratory.
We have had a long-term research interest related to the pathogenesis of endometriosis. Our major scope being the role of sex steroids and WNT-signalling in the establishment and growth of endometriosis. We are developing novel study models to understand endometriosis pathogenesis and it’s recurrence, These include immortalized cell lines as well applying large omics-based studies combined with patient questionnaire data. We have up to ten years follow-up data of the surgically treated patients.
Endometriosis causes infertility, chronic and cyclical pain with variable severity. These symptoms, however, are not unique to endometriosis, other diseases have similar symptoms making a reliable diagnosis challenging. Because of the relatively unspecific abdominal and pelvic pain symptoms, and the unrecognized nature of endometriosis, there is a 7 to 10-year delay from the onset of symptoms to diagnosis. A definitive diagnosis can be obtained by laparoscopy combined with histopathological confirmation, often preceded by treatment with oral contraceptives and/or NSAIDs. Hence, there are significant challenges in the field of endometriosis diagnostics. There is high demand for reliable non-invasive diagnostic assays, e.g. biomarkers from serum, urine or saliva, potentially aided by symptom-based questionnaires.
In the field of endometriosis diagnostics, we 1) Search for novel biomarkers measurable from body fluids and 2) Develop machine-learning algorithm based tools for early diagnosis and patient stratification. The symptom-based questionnaires are combined with biomarker data to identify prognostic markers e.g. for patients with high risk for infertility or recurrence.
Currently there is no definitive cure for endometriosis, but different treatment options exist to reduce the severity of the symptoms, and to improve quality of life. Besides NSAIDs, current medical treatments include the use of ovary-suppressing therapies, such as contraceptives, progestin and GnRH-analogs that are highly unspecific and preclude pregnancy. These medical therapies offer sufficient symptom relief in only some 50 % of patients, and surgery yields the best treatment outcome. Yet, endometriosis is found only in one third of patients undergoing surgery for endometriosis suspicion. Furthermore, endometriosis has a recurrence rate up to 50 % after surgical removal of the lesions, and there are no means of predicting which patients are at a risk for recurrence. The poorly understood pathogenesis and lack of feasible preclinical models set limitations to the development of novel and targeted therapies.
We are actively collaborating with industrial partners to enable efficient transfer of our results into drug discovery. Based on our long-lasting studies on steroid hormone action, a potential new treatment for endometriosis, based on inhibition of the HSD17B1 enzyme, is currently in preclinical development by Forendo Pharma.