The Missed Disease: the Battle Against Endometriosis

By Janhavi G Tonge, Troy High School, Troy, Michigan, United States

Summary 

Endometriosis is one of the most misdiagnosed conditions in the world. Nicknamed the “missed disease” by healthcare professionals, it is estimated that about 10% of the population that menstruates has this condition, which is about 190 million people worldwide (World Health Organization, 2023). The misdiagnosis of endometriosis has many factors, primarily due to the lack of research on this condition. The cause of endometriosis is still unknown. Lack of early diagnosis can lead to worse conditions and affect the quality of life. Furthermore, endometriosis increases the risks of cancers and cardiovascular issues, which is why early detection is necessary (Weinstock, 2021). Currently, this condition is diagnosed through invasive methods and can only be treated with surgical options (“Treatments Options for Endometriosis”, n.d). There is no simple test to determine whether the patient has the condition such as the one available for pregnancies. Therefore, more action needs to be taken to discover unique and accessible biomarkers to make early detection possible and to find better treatments. 

Full article

Endometriosis: A chronic condition that affects about 1 in 10 women every single day (World Health Organization, 2023). A condition that affects such a significant portion of the global population, but is very frequently misdiagnosed. In fact, women can suffer from endometriosis for 10 years or more before receiving an accurate diagnosis (Moen, 2017). Furthermore, endometriosis is often called the “Missed Disease” due to its high misdiagnosis rate (Hudson, 2022).  Why are women so frequently misdiagnosed when it comes to this condition and how can we fix this problem? 

Cause: 

Endometriosis develops when tissue lining the uterus starts to grow outside of the uterine walls, which can potentially develop into cysts or lesions and affect other organs in the abdomen (Yale, n.d.). This causes extreme pain and irritation that can have a deep impact on the quality of life and impact on the patient’s fertility. The cause for this disease is still unknown, but there are many theories. A recent theory is highlighting bacteria as a key player in disease progression (Ledford, 2023). There are mainly three different forms of endometriosis: peritoneal endometriosis, ovarian endometriosis, and deep-infiltrating endometriosis (Echols, 2023 ). Peritoneal endometriosis happens when the tissue lining of the uterus grows on the lining of the pelvis. Ovarian endometriosis is when the lesions are found in the ovaries. Deep infiltrating endometriosis is when the cysts or lesions are found in other organs near the uterus. There have also been cases where the uterus tissue lining was found in the lungs and even the brain, called cerebral endometriosis (Sharma et al., 2004). While this condition is mostly not fatal, one study from Taiwan has found that endometriosis greatly increases the chance of cardiovascular and cerebrovascular disease by up to 20% (Weinstock, 2021). This is why early diagnosis can help not only improve the quality of life for women, but also prevent the condition from developing into something worse.  

Treatments: 

There is currently no cure for this condition. Treatments for endometriosis are limited and invasive. There are medications to control symptoms, but this is not a permanent solution because once the patient stops taking medications, the symptoms reappear.  Not to mention, many of the treatment drugs have dangerous side effects. For example, a common treatment for endometriosis is gonadotropin-releasing hormone (GnRH) agonists. However, this medication can result in harmful side effects such as loss of bone density in women (“Treatments Options for Endometriosis”, n.d). Other treatments include surgery, where doctors remove the endometriosis cysts or lesions commonly through an open surgery. But this treatment is inaccessible to millions of women around the world due to its costs. With limited treatment options available, it is clear that to eradicate the problems with diagnosis and treatment, it is crucial that we focus on more research to clearly understand endometriosis.  

The Problem:   

One study conducted research using a national online survey and concluded that 75.6% of the women surveyed were initially misdiagnosed for another condition rather than endometriosis and had a diagnostic delay of about 8.6 years (Bontempo et al., 2020). There are many factors to this high misdiagnosis rate that comes with the condition. First of all, there are a lot of diseases that mimic the symptoms of endometriosis such as bladder infection or pelvic inflammatory disease (Grant, 2018). Not to mention, there are still many gaps in our current knowledge of endometriosis. For example, to this date, the cause of endometriosis is still unknown. There is also a lack of research on this topic and in women’s health in general (Adams, 2022). With little research, it will be hard to develop more treatment options or even diagnostic tests. In fact, current diagnosing procedures are laparoscopy, which is an invasive procedure where a camera is used to scan for signs of the disease, as well as MRI and ultrasound (“How do healthcare..”, 2020). However, these diagnosing tools are not widespread and can also be expensive or inaccessible in some parts of the world. There is still a need for a non-invasive, cheap, and rapid test that can be accessible to all parts of the globe. However, endometriosis still has no official biomarker that can be easily tested.  

Another contributing problem to the misdiagnosis rate is that women in general are more likely to be misdiagnosed than men. According to the research from Livi, about 57% of women have reported being misdiagnosed by their doctors (Bowen, 2022).  Women, in general, are more likely to be dismissed or have their symptoms not taken as seriously as men (Bowen, 2022). This makes misdiagnosing women a more significant problem, and can also explain why conditions such as endometriosis are very commonly incorrectly diagnosed or take such a long delay to be correctly diagnosed.     

Solution: 

There is no easy solution to this issue. While endometriosis misdiagnosis is a tough problem to solve, it is evident that a more concentrated effort on the topic’s research and on women’s health can help make this problem more visible to diagnose and to treat. More research to find possible serum biomarkers could help in the development of rapid immunological tests such as that with Covid and help prevent diagnoses delays. Such rapid tests will also make testing more available for women everywhere. More studies can also help scientists decipher the cause of the condition. Lastly, it is also very important to spread awareness so that more action can be taken. Filling in the missing gaps will one day help us find the cure.  

References