Can I Inherit Endometriosis?

While endometriosis affects approximately ten percent of women in their childbearing years, the condition’s underlying causes remain poorly understood to date [1]. Experts have long speculated that various factors, particularly in severe cases, contribute to endometriosis, including genetic factors. However, our understanding of these factors is still incomplete. Although endometriosis often appears within the same family (familial clustering), it is not thought to be directly inherited, akin to traits like eye color. Instead, it involves a complex interplay of multiple genes and other influencing factors. An international team of researchers has recently made significant progress in identifying the genes associated with the development of endometriosis [2]. 

Overview: Symptoms of Endometriosis and an Overview of Theories Regarding Its Development

Endometriosis primarily affects women of childbearing age, from their first menstruation to menopause. Approximately 1.7 million women in Germany contend with this condition [3]. Endometriosis is characterized by cells resembling the endometrium, the uterine lining, outside the uterus. These aberrant cell clusters, termed endometriosis lesions, typically form within the pelvic region. However, they can also manifest throughout the abdominal cavity and, on rare occasions, even in more distant organs such as the lungs. The predominant symptom is abdominal pain, particularly during menstruation, although it may also occur at other times. This discomfort may be accompanied by radiating pain and additional symptoms, including menstrual irregularities, gastrointestinal issues, and reduced fertility [1].

The precise causes behind the development of endometriosis remain incompletely understood. It is believed to result from a complex interplay among multiple factors rather than a single reason.

In a separate article, you can delve into the critical insights regarding the various theories proposed over time to explain the development of endometriosis. Here, we provide a concise list of some of the most prominent theories:

  • Implantation Theory
  • Metaplasia Theory
  • Induction Theory
  • Stem Cell Theory [4]

In this article, you will discover:

  • Symptoms and Theories Surrounding the Development of Endometriosis.
  • Key Findings from the Research Group.
  • Insights into the Hereditary Aspect of Endometriosis.
  • Additional Conclusions Drawn by the Researchers Based on the Study Results.

Overview: Investigating the Genetic Factors of Endometriosis

As far back as the 1980s, early studies hinted at a hereditary component in endometriosis [5], suggesting that the condition may have a genetic basis. Subsequent research [6] confirmed that first-degree relatives, such as mothers, daughters, and sisters, also face a significantly elevated risk of developing endometriosis.

One study reported that 9.5% of women with endometriosis had first-degree relatives (mothers or siblings) with the same condition. While this statistic underscores the hereditary influence on endometriosis, the fact that it remains below 10% indicates that multiple genes and factors are at play.

A twin study [7] further supported the notion that endometriosis has a genetic component, albeit to a certain degree.

Moreover, several studies [2] have offered initial insights into the possible genetic factors underlying endometriosis. However, these earlier studies have not definitively pinpointed the specific genes involved in the development.

Recent Research Findings: Unraveling the Genetic Inheritance of Endometriosis

An international team of researchers compared the DNA of over 5,000 women with endometriosis and more than 9,000 women without the condition. This investigation successfully identified two regions within the genome associated with endometriosis development.

According to the researchers, the identified gene (NPSR1) is known to become active in the brain. They hypothesize that while this gene may not directly influence the development of endometriosis lesions, it likely impacts the inflammatory response’s development or intensity. This inflammation, in turn, leads to the severe pain and disruptions experienced by those affected [9].

Implications of Study Findings: What Lies Ahead?

The present study’s findings shed light on the correlation between the severity of endometriosis expression and the genetic factor. This underscores the complex nature of endometriosis, reaffirming that it cannot be attributed to a single factor alone, such as genes. Drawing from this study, the question, “Can I inherit endometriosis?” can likely be addressed as follows: There is a heightened genetic risk among first-degree relatives.

Furthermore, the risk of inheriting endometriosis appears more pronounced in women with severe endometriosis than those with milder cases.

Consequently, while this study does not provide a definitive explanation for endometriosis causes, it paves the way for further research. It also prompts consideration of non-hormonal treatment approaches, potentially through animal experiments involving mice with endometriosis. This avenue of investigation could offer new prospects for treatment.

The genetic findings alone cannot comprehensively account for endometriosis or its risk distribution. Researchers now concur that a multitude of factors influence endometriosis. These encompass genetic elements and external influences on the immune system, hormones, inflammatory processes, etc.

Good to Know!

A particular study found that 9.5% of women with endometriosis had first-degree relatives (mothers or siblings) with endometriosis.

Furthermore, a twin study [7] lends support to the notion that endometriosis possesses a genetic component, implying that it is heritable to some extent.

Summary:

It has been established for some time that genetics play a role in developing endometriosis. A recent study has successfully pinpointed two gene segments that influence the outcome of severe endometriosis. This genetic influence is particularly notable in cases of severe symptoms. Additionally, the study suggests new possibilities for non-hormonal treatments, offering hope, especially to women desiring to conceive. Nevertheless, further research is needed.

Whether endometriosis is hereditary remains inconclusive as long as its exact origins remain unclear. While it is evident that close relatives face an elevated risk of endometriosis, the precise magnitude of this risk is uncertain. Given the involvement of numerous genes and external factors, determining the exact level of risk poses a challenge.

References

  1. Andreas D. Ebert; Endometriose, Ein Wegweiser für die Praxis; De Gruyter
  2. Dissertation Kathrin Anne Büchner, Genetische Risikofaktoren für das Ovarial- und Endometriumkarzinom bei Patientinnen mit Endometriose in einer deutschen Fall-Kontroll-Studie. 2020
  3. Gynäkologie und Geburtshilfe, Springer Verlag, 2006
  4. Endometriose Aktuell; 2/2019; Stiftung Endometriose Forschung
  5. Simpson, J.L., S. Elias, L.R. Malinak und V.C. Buttram, Jr., Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol, 1980. 137(3): p. 327-31.
  6. Matalliotakis, I.M., A. Arici, H. Cakmak, A.G. Goumenou, G. Koumantakis und N.G. Mahutte, Familial aggregation of endometriosis in the Yale Series. Arch Gynecol Obstet, 2008. 278(6): p. 507-11.
  7. Saha, R., H.J. Pettersson, P. Svedberg, M. Olovsson, A. Bergqvist, L. Marions, P. Tornvall und R. Kuja-Halkola, Heritability of endometriosis. Fertil Steril, 2015. 104(4): p. 947-52.
  8. https://www.science.org/doi/10.1126/scitranslmed.abd6469
  9. https://www.aerzteblatt.de/nachrichten/126743/Endometriose-Defekt-in-Entzuendungsgen-weist-auf-neuen-Therapieansatz-hin

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