Large endometriosis study explores genetic link

The Women's researchers Jane Girling (left) and Sarah Holdsworth-Carson (right) are investigating the genetic links which may pre-dispose women to increased susceptibility of developing endometriosis.
1 March 2017 | Gynaecology | Research and clinical trials

Endometriosis is a gynaecological disorder that results from endometrial-like tissue implanting and growing at sites outside the uterus, for example in the peritoneal cavity or in the ovaries.

It is a silent disorder in our community, even though as many as one in 10 women suffer from the disease. Most of us will know someone who has endometriosis, a friend or family member.

The biggest symptom of endometriosis is pain, and it can cause infertility.

Levels of pain can be really extreme, and this is not well understood, as it has no visible signs. Sufferers are often told to stop complaining.

March is Endometriosis Month, and staff are the Women’s are keen to raise awareness of the disease and latest developments in research and clinical practice.

Research Fellow Dr Sarah Holdsworth-Carson is working on new developments in endometriosis, in the Gynaecology Research Centre at the Women’s.

“We know that there are both genetic and environmental influences that drive endometriosis, with 50% genetically related (DNA and genes) and 50% environmental factors, including lifestyle, what we eat, exposure to chemicals and the atmosphere,” Dr Holdsworth-Carson said.

“Endometriosis is a complex disease, with no single gene responsible. There is no endometriosis gene.

“The Women’s has established a research program to investigate the genetic links which pre-dispose women to increased susceptibility to developing endometriosis.

“The Australian Endometriosis Study has more than 650 women involved. Women with and without the disorder are recruited into the study, and provide detailed information about their gynaecological history. With blood tests and background history for these women, we are able to comprehensively examine their genetic backgrounds. In the lab, we can begin studying functional biological mechanisms of the genes to decipher their role in the development of endometriosis.”

There are several myths about endometriosis which the Women’s is keen to dispel: that it is caused by a sexually transmitted infection; that becoming pregnant will cure endometriosis; and that a hysterectomy will cure endometriosis – none are true.

Women and young girls need to be aware that severe period pain is not normal. If pain becomes so bad that they are missing days from work or school, the menstrual pain needs to be investigated. Menstrual pain is one of the biggest symptoms of endometriosis.

“In the past this problem was not deemed suitable for discussion, but it is serious and can bring infertility. Today more people are discussing the issue but it is still not well understood. It is a benign condition, but quality of life can be severely reduced. Because it does not kill people, for many it is not on the radar and we’d like very much to change this," Dr Holdsworth-Carson said.