Non-invasive tests to provide quicker diagnosis of endometriosis
Non-surgical ways of detecting endometriosis, such as blood tests, could reduce the time taken for a diagnosis, and researchers hope it will have a significant impact on the quality of life of women who live with the complex and painful condition.
Endometriosis is a chronic inflammatory disease affecting an estimated 10% of women of reproductive age in which pieces of endometrium – the lining of the uterus – grow elsewhere in the pelvis. This can cause pelvic and period pain, painful sexual intercourse, and subfertility.
Currently, the only way to definitively confirm the condition is through invasive surgery, called a laparoscopy, but French start-up Endodiag is developing a diagnostic method that avoids this. Its early testing system involves testing blood and endometrium samples, both of which can be taken without surgery.
'We've been convinced since the beginning, and we still are, that being able to provide a non-invasive method of diagnosis much earlier is going to have an extremely significant impact on the treatment and quality of life of patients,' said Endodiag CEO Cécile Réal.
Réal, a biomedical engineer and entrepreneur, who created her first start-up, which made orthopaedic implants, when she was just 25, co-founded Endodiag in 2011 with the aim of turning academic research into concrete products that can help patients.
Endometriosis is a progressive illness, so a delay in diagnosis means a delay in treatment and therefore the possibility of damage that could have been avoided, as well as fertility problems that could have been addressed sooner.
Endodiag aims to reduce the time it takes to diagnose endometriosis – which can sometimes be as much as a decade – not to mention make the process less traumatic for the women involved.
'There's a psychological as well as a physical suffering associated with endometriosis,' Réal said. 'Often women have been stuck in a kind of medical limbo for years, knowing something is wrong but being told everything is fine. It's very important to be able to put a name to what is wrong.'
As the profile of the disease can vary dramatically from patient to patient, Endodiag is also seeking to create what Réal describes as an identity card for the disease in each individual patient, using those samples to characterise the severity of the illness, how likely it is to recur and how receptive it may be to different treatments.
Endodiag is currently conducting human trials and hopes its products will be on the market by 2020, Réal says.
Historically, endometriosis has attracted relatively little attention from researchers – with diagnosis often slow and treatment options limited as a result.
Réal believes that endometriosis has been overlooked partly because of its complexity, partly because of lingering taboos over talking about menstruation and reproductive health, and partly because it is an illness affecting women.
She says endometriosis is as common in women as diabetes. 'But everyone knows what diabetes is and there is a lot of money being invested in diabetes research.'
Dr. Martin Götte, professor of medical biochemistry at the University of Münster, Germany, said that endometriosis is sometimes known as 'disease without a lobby'.
'Many women suffer tremendous pain and reduced fertility but because the disease mechanism is linked to menstruation, historically from a societal perspective it has been considered normal that women should have this pain,' he said. 'It took a long time to discover there was a physiological basis behind this.'
He leads a project called Momendo, which is seeking to better understand the molecular origins and mechanisms of endometriosis.
One of their aims is to identify biomarkers – tell-tale molecules that identify endometriosis – that could lead to a diagnostic blood test.
But Dr. Götte hopes that understanding the molecular basis of the disease could also help with treatment.
'If we know and understand how the disease works we will be able to come up with new and more targeted treatments,' he said.
Currently, options are limited. 'Therapeutically, you have an anti-hormonal therapy, which works but which has side effects,' said Dr. Götte. 'And if you stop the therapy endometriosis will come back – it's not a cure.'
The other possibility is surgery on endometrial lesions, but this often has to be repeated when the endometrial tissue grows again.
As part of their work, Momendo researchers are looking at an imbalance of sensory nerve fibres in endometriotic tissue. 'We are beginning to understand much better why endometriosis patients have pain. This understanding can hopefully help to find new or more targeted therapies against the pain endometriosis patients have,' Dr. Götte said.
They are also looking at the molecular causes of the disease in order to work out where exactly to target drugs, as well as investigating whether existing drugs for other diseases or natural substances such as compounds from pomegranates could treat endometriosis.
Dr. Götte says that a better understanding of how the disease works could also eventually lead to improved fertility outcomes.
'Many of the processes that drive endometriosis are also physiologically important for fertility,' he said. 'For example, angiogenesis – the formation of new blood vessels – is very important for fertility but aberrant angiogenesis also plays a role in the development of endometriosis. The challenge is to find something that targets diseased cells but keeps healthy tissue intact. This will not be easy.'
The team's approach could also have implications for other fields, Dr. Götte says. 'The molecular area is relevant. Many of our discoveries can be applied to other diseases, including cancer.'
Efforts by patient groups in recent years have been partly responsible for raising awareness of endometriosis, leading to more attention from the scientific community, which has benefits not just for the women who have to live with the condition. The economic and social cost of endometriosis – in terms of needless medical tests and sick days – is significant too.
'This has been a neglected field – some researchers argue that people don't die from it, but some of these women really have tremendous pain and find their ability to work and social relationships affected,' said Dr. Götte. 'We need to do more about this.'