Orphanet Journal of Rare Diseases (Apr 2023)

Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature

  • Samaneh Rokhgireh,
  • Abolfazl Mehdizadehkashi,
  • Shahla Chaichian,
  • Mohammad Faranoush,
  • Fardis Salmanpour,
  • Noosha Samieefar,
  • Roya Derakhshan

DOI
https://doi.org/10.1186/s13023-023-02694-6
Journal volume & issue
Vol. 18, no. 1
pp. 1 – 8

Abstract

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Abstract Background Glanzmann thrombasthenia (GT) is a rare bleeding disorder with a high prevalence in communities where consanguineous marriages are mainstream. Endometriosis is a chronic inflammatory disease, and its risk increases in women with menstrual periods of longer than six days. The phenotypic expression of endometriosis is determined by the frequency and rate of the menstrual flow, as well as genetic and environmental factors. Result and case presentation 14-year-old monozygotic twin sisters with GT who developed ovarian endometriosis were referred to Hazrat Rasoul Hospital due to severe dysmenorrhea. In ultrasonic examination, endometrioma cysts were reported in both patients. They both went under endometrioma cystectomy, and the bleeding was managed using antifibrinolytic drugs, followed by recombinant activated coagulation factor VII. Both were discharged after 3 days. In the ultrasound examination performed one year after the surgery, ovaries were normal in the first twin, while the second twin had a 28 × 30 hemorrhagic cyst in the left ovary. Discussion and conclusion Menstrual bleeding and genetic factors are two theories that could be related to GT and endometriosis association, and GT could be considered a risk factor for endometriosis.

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