DIAGNOSIS AND TREATMENT OF ENDOMETRIOSIS: A REVIEW OF THE LITERATURE

REGISTRO DOI:10.69849/revistaft/cl10202410171901


Adriano de Lucena Jambo Cantarelli
Rafael Amorim Jambo Cantarelli
Matheus Soares Pessoa
Millena de Castro Vila Nova Dias
Yasmin de Freitas Melo Oliveira
Álvaro Fellipe da Silva Oliveira
Rodolpho Costa Dos Santos Gérard Henri Poussielgue
Lavínia Tenório Cardoso
Alina Malta Brandão Nunes
Marly Caroline Mendonça Ramires


SUMMARY

Introduction: Endometriosis is a chronic inflammatory disease characterized by the growth of tissue similar to the endometrium outside the uterus, affecting up to 190 million women of reproductive age in 2024. The main symptoms include chronic pelvic pain and infertility, with retrograde menstruation and immune dysfunction being important pathophysiological factors. Additionally, risk factors such as family history, early menarche, and heavy menstrual flow contribute to the development of the disease. Diagnosis may require laparoscopy with biopsy, while treatment is individualized and includes hormonal therapies and surgical interventions. Therefore, early diagnosis and appropriate treatment are crucial to prevent complications and improve patients’ quality of life. Objective: The objective of this work is to describe the diagnosis and treatment of endometriosis. Method: This is an integrative literature review where the research question is: what is the importance of the diagnosis and treatment of endometriosis? The descriptors used were: “diagnosis,” “endometriosis,” and “therapeutics.” Searches were conducted on the BVS platform, resulting in 23 articles. Among the inclusion criteria, articles in Portuguese, English, and Spanish from 2019 to 2024 were selected. Results: Endometriosis is a chronic gynecological condition characterized by the growth of tissue similar to the endometrium outside the uterus, which can cause severe pain, infertility, and a range of other varied symptoms. The diagnosis is complex and begins with a detailed medical history, possibly including physical exams and imaging tests, with laparoscopy being the definitive method for confirmation. Treatment can be conservative, using pain relievers and hormones, or surgical, depending on the severity and symptoms presented. Additionally, lifestyle changes, such as regular exercise and a healthy diet, can also help manage symptoms. Finally, it is important for treatment to be individualized and regularly monitored by a gynecologist to ensure an approach that meets the patient’s needs. Conclusion: Endometriosis is a chronic gynecological condition characterized by the presence of tissue similar to the endometrium outside the uterus, causing severe pain and infertility. Diagnosis involves medical history, physical examination, and imaging tests, with laparoscopy being the definitive method. Treatment may include analgesic and hormonal medications, as well as surgery in severe cases. Lifestyle changes and fertility therapies are important, especially for women wishing to conceive. Therefore, treatment should be individualized and monitored by a gynecologist.

Keywords: Diagnosis. Endometriosis. Therapeutics.

1. INTRODUCTION

Endometriosis is a chronic inflammatory disease characterized by the growth of tissue similar to the endometrium outside the uterine cavity, in locations such as the ovaries, fallopian tubes, and peritoneum. In more severe cases, this ectopic tissue can spread to distant organs, such as the intestines and bladder, resulting in a variety of symptoms, including chronic pelvic pain, dysmenorrhea, dyspareunia, and often infertility. In 2024, it is estimated that approximately 10% of women of reproductive age worldwide, around 190 million women, are affected by this condition.

Regarding pathophysiology, endometriosis involves multiple complex factors. The most accepted theory is that of retrograde menstruation, where menstrual blood, instead of being expelled from the body, flows back through the fallopian tubes, allowing endometrial cells to implant outside the uterus. Once implanted, these cells respond to hormonal stimuli from the menstrual cycle, proliferating and causing pain and fibrosis in adjacent tissues. Additionally, immune dysfunctions play a critical role, as they allow these ectopic cells to escape destruction by the immune system. Concurrently, inflammatory factors and high estrogen levels promote angiogenesis and the growth of lesions, exacerbating the clinical picture.

As for the causes and risk factors, although the exact causes of endometriosis are not fully identified, genetic, immunological, and environmental factors are known to play an important role. Among the most common risk factors are a family history of endometriosis, early menarche, short menstrual cycles, and heavy menstrual flow. These conditions combined increase a woman’s susceptibility to developing the disease.

The diagnosis of endometriosis may be prompted by the wide variability of symptoms and overlap with other gynecological conditions. While imaging tests, such as transvaginal ultrasound and magnetic resonance imaging, may suggest the presence of the disease, definitive diagnosis usually requires laparoscopy with biopsy. Treatment, in turn, is individualized and depends on the severity of symptoms, the extent of lesions, and the desire to preserve the patient’s fertility. Therapeutic options range from hormonal therapies and analgesics to interventional procedures.

Finally, early diagnosis and appropriate treatment of endometriosis are essential to prevent more severe complications, such as infertility and chronic pain, as well as significantly improving the quality of life for patients. This underscores the importance of a multidisciplinary and personalized approach aimed at minimizing the impact of the disease on reproductive health and the overall well-being of affected women.

2. THEORETICAL FOUNDATION OR LITERATURE REVIEW

Endometriosis is a chronic inflammatory disease characterized by the presence of tissue similar to the endometrium outside the uterine cavity, often located in areas such as the ovaries, fallopian tubes, and pelvic cavity. In more severe cases, these lesions can spread to other organs in the abdominal cavity, such as the intestines and bladder, causing a variety of symptoms, including chronic pelvic pain, dysmenorrhea, and infertility. According to estimates for 2024, approximately 10% of women of reproductive age are affected by endometriosis, corresponding to around 190 million women worldwide (WHO, 2024). Furthermore, the disease is one of the leading causes of chronic pelvic pain, severely impacting patients’ quality of life.

Historically, endometriosis has been described over the centuries, although its recognition as a specific medical condition is relatively recent. As early as the time of Hippocrates in the 5th century BC, symptoms resembling endometriosis were observed, primarily in women reporting intense pain associated with the menstrual cycle. However, it was only in the late 19th century that endometriosis began to be described more systematically, with surgical reports of endometrial tissue outside the uterus (Giudice & Kao, 2020). In 1927, physician John Sampson proposed the theory of retrograde menstruation, which suggests that menstrual flow backs up through the fallopian tubes, allowing endometrial cells to implant outside the uterine cavity (Sampson, 1927). Although this theory is widely accepted, research continues to evolve.

As the 20th century progressed, endometriosis began to receive greater attention from the medical community, especially due to its impact on fertility and women’s overall health. Contemporary studies indicate that endometriosis is a multifactorial disease, with genetic predisposition being one of the main factors. Research shows that women with first-degree relatives affected by the disease have a significantly increased risk of developing the condition (Missmer et al., 2021). Additionally, genetic variants have been identified and associated with a higher risk, reinforcing the importance of heredity (Nyholt et al., 2022). Concurrently, environmental factors have also been considered. For example, exposure to harmful substances, such as dioxins, appears to exacerbate the risk of endometriosis, possibly by interfering with immune and hormonal responses (Berkley et al., 2019).

In addition to genetic and environmental factors, hormonal and immunological aspects play a crucial role in the pathophysiology of endometriosis. Ectopic endometrial tissue is highly sensitive to the same hormonal influences as the endometrium within the uterus, responding to the menstrual cycle with effective proliferation and bleeding, which leads to inflammation and pain in the affected areas (Giudice & Kao, 2020). Furthermore, studies indicate that immune dysfunction allows endometrial cells implanted outside the uterus to evade destruction, promoting the survival of these cells and perpetuating chronic inflammation (Coutinho et al., 2020). As a result, the formation of adhesions and fibrosis worsens the clinical picture, intensifying symptoms and associated complications.

Over time, endometriosis has transitioned from being a poorly understood disease to becoming one of the main focuses of research in gynecology. The increasing number of studies reflects both its high prevalence and the clinical challenges it presents. Although many advancements have been made, particularly in understanding genetic and immunological factors, various aspects of the disease still remain unknown. Therefore, it is crucial to continue research on the genetic, environmental, and immunological bases of endometriosis, as this will enable the development of new therapeutic approaches and more effective prevention strategies.

3. METHODOLOGY

Through a literature review, this work was conducted based on articles published in traditional national and international journals, prioritizing the core of the proposed topic, which emphasized the diagnosis and treatment of endometriosis. The selected articles were listed by their most recent publications on the subject, between the years 2019 and 2024, using the following descriptors: “diagnosis,” “endometriosis,” and “therapy.”

4. RESULTS AND DISCUSSIONS OR DATA ANALYSIS

Endometriosis is a chronic gynecological condition characterized by the presence of tissue similar to the endometrium outside the uterine cavity, which can cause severe pain, infertility, and a range of other symptoms. The diagnosis of endometriosis may be sought, as symptoms vary from woman to woman and often overlap with other conditions, such as polycystic ovary syndrome.

The diagnostic process generally begins with a detailed medical history, where the doctor collects information about the patient’s symptoms, menstrual history, and other aspects of their health. The most common symptoms include pelvic pain, pain during menstruation (dysmenorrhea), pain during sexual intercourse (dyspareunia), and changes in bowel or urinary habits. To complement this clinical assessment, a physical examination, including a pelvic exam, may be performed to identify signs of endometriosis.

In addition, imaging tests, such as transvaginal ultrasound and magnetic resonance imaging (MRI), are often used to visualize endometriotic lesions and determine the severity of the condition. However, the definitive diagnosis of endometriosis is often made through laparoscopy, a surgical procedure that allows direct visualization of the abdominal cavity and the collection of biopsies. This method not only confirms the presence of endometriosis but also allows the physician to perform therapeutic interventions simultaneously, such as the removal of lesions.

Endometriosis is a gynecological condition characterized by the growth of endometrial tissue outside the uterus, which can cause severe pain, menstrual irregularities, and fertility problems. Treatment for endometriosis can vary depending on the severity of the disease, the symptoms presented, and the desire to conceive.

Initially, treatment may be conservative and include pain relief medications, such as analgesics and anti-inflammatories. However, for patients seeking more effective symptom control, hormonal options are often indicated. Hormonal contraceptives, such as birth control pills, can help regulate the menstrual cycle and reduce pain, as they inhibit ovulation and the formation of endometrial tissue. Additionally, the use of progestogens, which can be administered through injections, implants, or pills, is another common approach, as these hormones decrease the activity of endometrial tissue and promote its regression.

In more severe cases or when medical treatment is ineffective, surgery may be considered. Laparoscopy is a minimally invasive procedure used to remove or destroy endometriotic lesions. Depending on the extent of the disease, a laparotomy, which is a more extensive abdominal surgery, may be necessary. In cases where endometriosis affects nearby organs, such as the ovaries or intestines, removal of those organs may also be considered.

In addition to medical treatments, lifestyle changes can help manage symptoms. Regular physical exercise, a balanced diet, and relaxation techniques, such as yoga and meditation, can contribute to pain reduction and overall well-being. For women who wish to conceive, treatment for endometriosis may include fertility therapies, as the condition can interfere with ovulation and sperm passage. In these cases, artificial insemination or in vitro fertilization (IVF) may be recommended.

Finally, it is important to emphasize that the treatment of endometriosis should be individualized, taking into account the symptoms, severity of the condition, and the patient’s preferences. Regular follow-up with a gynecologist is essential to monitor the progression of the disease and adjust therapeutic options as needed.

5. CONCLUSION/FINAL CONSIDERATIONS

Endometriosis is a chronic gynecological condition characterized by the presence of tissue similar to the endometrium outside the uterus, which can cause severe pain and infertility. The diagnosis involves a detailed medical history, physical examination, and imaging tests; laparoscopy is considered the definitive method, as it allows for confirmation and simultaneous treatment.

Additionally, the management of endometriosis may include analgesic and hormonal medications, while surgery is an option in more severe cases. Lifestyle changes, such as exercise and a healthy diet, as well as fertility therapies, are also essential, especially for women who wish to conceive. Therefore, it is crucial that treatment is individualized and regularly monitored by a gynecologist.

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