New Test Could Speed Up Endometriosis Diagnosis – Sparing Millions Years Of Agony

A NEW test could speed up an endometriosis diagnosis - sparing millions of sufferers years of agony, experts say.

Researchers say that by looking at DNA patterns it could help diagnose the debilitating condition - and tailor customised treatment to patients.



A simple DNA test could speed up endometriosis diagnoses, experts say

Endometriosis - which affects 1 in 10 women - is caused when tissue from the womb starts to grow on other pelvic organs.

While it is the second most common gynaecological condition after fibroids, shockingly, the average diagnosis time is more than seven years.

That's because, currently, the only way to be sure someone has the illness is through an invasive surgical procedure known as a laparoscopy.

In our DNA
But now scientists from the University of California say that the answer might lie in DNA - and could pave the way for new diagnostic test and better treatment.

Experts compared the DNA in cells from the womb of women with endometriosis with those who don't have the condition.

They found that in endometriosis sufferers, their cells had undergone chemical modifications known as DNA methylation, which can alter gene activity.

Endometrosis: The 4 signs to know
Endometriosis is known to occur when tissue from the lining of the womb is found outside of the womb - in areas of the body including the ovaries, Fallopian tubes, the abdomen and the bladder.

While it affects 10 per cent of women, Dr Sarah Jarvis, GP and clinical director of Patient.info, told The Sun Online that symptoms can often be ignored.

She says: "One of the biggest challenges with getting a diagnosis of endometriosis is that the symptoms may be mistaken for other problems."

Here, she takes us through the four key signs to look out for:Heavy periods

1. Painful periods

One of the main symptoms is painful periods – but the pain is often more severe than ‘normal’ period pain, and lasts from a few days before the period until the end of the period.

Many women also have low tummy and pelvic pain, which may be worse before and during a period but can be there all the time.

2. Pain during and after sex

Painful sex – especially during deep penetration – is also a common symptom of endometriosis. This can last for several hours after sex.

Penetration and other movements related to sex can pull and stretch endometrial tissue, especially if it has grown behind the vagina or lower uterus.

3. Difficulty conceiving

Endometriosis can also make it harder for you to get pregnant.

If you have endometriosis and are trying to get pregnant without success, it is important that you get help and support so speak to your doctor about being referred to a gynaecologist or a fertility specialist.

4. Bleeding between periods

Spotting between periods might not seem like too bothersome a problem but it can be one of the key signs of endometriosis.

A study published in the American Journal of Obstetrics and Gynecology showed premenstrual spotting is the clearest predictor of endometriosis.

5. Pain when you go to the toilet

It can also cause pain when you wee or poo and very occasionally blood in the wee or poo.

You may also experience fatigue, diarrhoea, constipation, bloating or nausea.

These also varied according to the stage or severity of the condition - and responded differently to hormones involved in the menstrual cycle.

The study, which was published today in PLOS Genetics, was funded by the US National Institutes of Health (NIH).

Prof Stuart Moss, of the NICHD's Fertility and Infertility Branch, said: "The findings raise the possibility that differences in methylation patterns could one day be used to diagnose endometriosis and develop customised treatment plans for patients."

Closer look
The researchers analysed a type of cell known as an endometrial stromal fibroblast, which regulates cells in the lining of the womb.

They compared methylation across DNA regions and differences in gene functioning in cells from women who did not have any gynecological disorders to those of women with stage one and stage five endometriosis.

They also observed methylation patterns and gene functioning after the cells were exposed to number of different hormones.



Endometriosis causes tissue that behaves like the lining of the womb to grow outside the womb

They included estradiol - a form of oestrogen, progesterone, and to a combination of the two hormones to mimic changes in the levels of these hormones that occur during the menstrual cycle.

Experts found that DNA methylation patterns and gene functioning differed among all groups of cells before exposure to the hormones, with exposure to each individual hormone, and to the combination of the two.


Dr Linda C. Giudice, who conducted the study, said that the differences in methylation and gene functioning between stage one and stage five endometrial cells could mean that the two may be distinct subtypes of endometriosis, rather than different degrees of the condition.

The study's lead author, Prof Sahar Houshdaran, said: "The data indicate that the proper interactions of hormones and DNA methylation are critical in normal uterine function.

"The changes in these interactions that we've seen could play a role in the infertility that often accompanies endometriosis."

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