Explaining endometriosis: How is the condition diagnosed?

The symptoms of endometriosis can include severe and chronic pain with periods or sexual intercourse, whilst other women may be unaware they are suffering from the condition until they experience fertility issues. Highly respected consultant gynaecologist and fertility specialist Dr Ahmed Elgheriany shares his expertise in this detailed guide to endometriosis diagnosis and ‘silent disease’, the second part of his informative series on the condition.

How common is endometriosis? Does it run in families?

The incidence of endometriosis in the general population is around one in ten and amongst fertile people, this rises to between four and five out of every ten people.

If a close family relative is affected by endometriosis, the likelihood of the incidence of endometriosis increases by tenfold. In the most severe cases of endometriosis in close family members like a sister or mother, a woman’s chance of suffering from the condition increases to fifteen fold of that of the general population.

Interestingly, this varies between different races and endometriosis is less often reported in black communities compared to white and Asian communities.

Could you have endometriosis without knowing it?

Yes, some women have endometriosis and have no idea that they have the disease because of the huge spectrum of symptoms. It’s possible to experience mild symptoms of dysmenorrhea, or painful periods, throughout your life along with some bloating and occasional constipation, but it is very unlikely you will be diagnosed with endometriosis. This is known as silent endometriosis, or silent disease.

A woman who is experiencing mild symptoms of endometriosis will probably not seek help from a doctors and this means any related fertility problems will be unexplained. In four to five out of every ten cases of unexplained infertility, silent endometriosis is the cause.

How is endometriosis diagnosed?

The diagnosis of endometriosis is quite complex and depending on the spectrum of symptoms that a woman may have, it can take up to eight to twelve years to be confirmed definitively.

First of all, it’s important to be fully aware of the patient’s history as we need to know exactly what symptoms they experience, how severe they are as well as anything that affects or triggers them. These symptoms could be wide ranging and may include:

• pain in different areas of the body, such as severe pelvic pain
• period pain
• pain with intercourse
• bloating
• constipation
• abnormal chronic urine infections

Any symptoms need to be carefully analysed and we assess their relation to the woman’s menstrual cycle and any possible triggers, such as any kind of hormone medication or specific foods. Taking this history is very important as an initial step towards diagnosis. In fact, minimal or mild endometriosis can be suspected simply according to the symptoms a patient experiences but severe cases are often diagnosed by other modalities.

Sometimes patients need to undergo a physical exam to confirm a diagnosis, such as a pelvic exam or a finger exam through the vagina to check the area around the womb (the adnexa). This area contains the ovary and fallopian tubes and we can sometimes feel a cyst or if both of the ovaries are touching each other. When the ovaries are fixed together, this is known as frozen pelvis or kissing ovaries and this reflects severe endometriosis. In some cases, we can even find nodules of endometriosis inside the vagina in an examination.

Within the last decade, we have started to use pelvic ultrasound and MRI imaging to diagnose endometriosis if we suspect it from a patient’s history of symptoms, instead of waiting longer to be diagnosed through surgery or laparoscopy.

It can be helpful to use pelvic ultrasound scanning to diagnose symptoms of endometriosis if they relate to the pelvis. Cystic lesions on the ovaries, known as endometriomas, can be diagnosed by ultrasound and are found in forty per cent of patients with endometriosis. These growths can vary in dimension and can be an alarming sign but whatever the size of the endometrioma, it reflects that there is endometriosis inside the body.

MRI scanning can be used to help diagnose endometriosis if the patient reports symptoms away from the pelvis or those which indicate severe disease, such as endometriosis within the ureter, around the kidney, in the bladder or the bowel or around the diaphragm. MRI scanning can help us to diagnose the stage of the disease before planning for surgery so we know exactly what intervention is needed and the patient is well informed before undergoing their procedure.

The final possible modality of diagnosis is keyhole surgery, or laparoscopy, which was the gold standard for a long time. Although previously very commonly used to confirm or rule out a diagnosis of endometriosis, investigation by laparoscopy can be misleading if it is performed by a generalist rather than a specialist. This is because the shape and appearance of the endometriosis inside the tummy and pelvis varies greatly between one woman and another. Endometriosis can appear as fine dots, small nodules, big nodules, scar tissue, fine adhesion or firm adhesion and in many colours including brown, grey and white.

As there is a great variety of signs of endometriosis inside the pelvis that may be seen in a laparoscopy, it should be performed by a specialist who is well aware of what they are looking for rather than by a generalist who might miss key symptoms and mistakenly rule out the condition and give a false negative diagnosis, delaying the woman’s access to effective treatment. A specialist can effectively identify the signs of endometriosis in a laparoscopy and a biopsy can be taken from the cells if we suspect the condition is present during the surgery.

You can read more about the causes and symptoms of endometriosis and how the condition and its treatment can impact fertility in Dr Elgheriany’s other articles in this informative series on endometriosis.

If you are worried about the symptoms of endometriosis and wish to book a consultation with Dr Elgheriany, you can do so by visiting his Top Doctors profile.