Glanzmann’s Thrombasthenia in a Young 11-Year-Old Girl Presenting with Menorrhagia: When to Suspect and How to Manage a Rare Disease

Abstract

We report on an otherwise healthy 11-year-old girl without any past or family history of bleeding, presenting with abnormal menstrual blood losses since menarche which started 4 months back. The patient was evaluated by a gynecologist with evidence of a normal physical examination and pelvic ultrasounds except for the diagnosis of anovulatory cycles. Blood tests including complete blood cells count and first line coagulation assays were normal. She did not respond to oral tranexamic acid treatment suggested by a pediatrician. The patient was later admitted in a reference hospital for investigations and a hematology consult was requested. A second line coagulation assay was normal but platelets aggregation tests were suggestive of Glanzmann’s thrombasthenia which was confirmed by flow cytometry. Treatment recommendations were made and with the additional estro-progestin treatment administration, a good control of excessive menstrual blood losses was achieved and haemoglobin levels remained stable.