The Heritability of Endometriosis

The authors of this study believe that Endometriosis exhibits a monogenic Mendelian pattern of inheritance.

Key Points

Highlights:

• This study seeks to identify whether there is a genetic basis upon which endometriosis is passed down within a family.

Importance:

• Finding the genetic basis of endometriosis may shed light on the mechanism underlying the disease. Identifying the mechanism can help researchers develop more targeted therapies to eradicate the disease.

What’s done here?

• This study looks at the clinical reports of two families, which the researchers believe display a Mendelian inheritance of endometriosis.
  • Both families had 4 affected sisters. The mother in the second family was also affected.
• Techniques for diagnosis and monitoring of the disease include:
  • Pelvic MRI
  • Histological examination
  • Laparoscopic resection
• The researchers made note of the following factors as it pertained to each participant:
  • Age of diagnosis
  • Type of Endometriosis
  • Number of lesions
  • Location of lesions
  • Symptoms

Key results:

• All the women observed in this study had deep moderate to severe endometriosis.
• The authors state that the severity of endometriosis and familial occurrence that is seen in this study points to a monogenic Mendelian pattern of inheritance with respect to endometriosis.

Limitations of the study:

• The participant pool for this study only includes two families. More families would need to participate in a study like this before certain conclusions can be sustained.

Lay Summary

The mechanisms underlying endometriosis, genetic or otherwise, have yet to be understood. Thus, very little is known about how one can be afflicted with this disease. Isidor et al. recently published a paper titled “Familial deep endometriosis: A rare monogenic disease?” in The European Journal of Obstetrics & Gynecology and Reproductive Biology that looks to implicate any genetic factors that can potentially cause the disease.

The experimental process involved 2 families. Each of the families had 4 sisters that had endometriosis and the second family had a mother inflicted with the disease as well. The researchers used a variety of diagnostic techniques in order to determine each individual’s type of endometriosis, number of lesions, the localization of lesions, and symptoms.

The results of the study show that all the women studied had deep moderate to severe endometriosis. From the information presented, including the disease severity and familial occurrence, the researchers believe that endometriosis displays a monogenic Mendelian pattern of inheritance.

Research Source: https://www.ncbi.nlm.nih.gov/pubmed/29224847