CASE PRESENTATION:
A 12-year-old female with a known history of GT presented to the Emergency Department (ED) with a chief complaint of HMB. She was diagnosed with GT in infancy in setting of extensive bruising, recurrent mucosal bleeding, and persistent gastrointestinal bleeding. Prior to menarche, she had recurrent episodes of epistaxis and an episode of deep tissue hematoma that was managed outpatient with aminocaproic acid. She had two hospital admissions secondary to gingival and dental bleeding requiring treatment with intravenous recombinant rFVIIa and a tooth extraction. She had no need for major surgical procedures to date. She was followed by Pediatric Hematologist for her condition but had not yet been evaluated by a Pediatric Gynecologist prior to menarche due to limited access.
Prior to presentation to the ED, she had experienced menarche followed by 24 days of HMB refractory to high dose oral contraceptive taper (Norgestimate-Ethinyl Estradiol 0.25mg-25mcg three times daily for three days, twice daily for two days, and daily thereafter). As bleeding continued, she was brought to the ED for further evaluation and admitted for management of acute blood loss anemia with a team of Pediatric Hematologists and Gynecologists.
Evaluation included a transabdominal pelvic ultrasound that revealed a thin endometrial stripe of 5 millimeters. She was started on intravenous estrogen therapy (intravenous conjugated estrogen 25 mg every four hours) and transitioned to oral estrogen (conjugated estrogen 2.5mg every 4 hours) for a total of 48 hours. During this initial phase, the patient required 5 units of packed red blood cells due to acute blood loss anemia. Upon improvement of her vaginal bleeding similar to a light menses, she was transitioned to daily oral progesterone (Norethindrone Acetate 10mg twice daily). Unfortunately, her HMB soon returned. Due to persistent bleeding refractory to the aforementioned hormonal therapy, she received leuprolide acetate (intramuscular 11.25 mg once) to suppress the HPO axis and induce an hypoestrogenic state. At this time, she was continued on oral progesterone (Norethindrone acetate 10mg twice daily) and aminocaproic acid to quell the ongoing bleeding and allow for leuprolide acetate to take therapeutic effect. Five days after administration of leuprolide acetate, patient achieved amenorrhea and was discharged.
Patient had several weeks without vaginal bleeding and a norethindrone taper was attempted (5mg daily for a week, 2.5mg for a week, then 2.5mg every other day for a week). However, due to interval return of vaginal bleeding, a transabdominal pelvic ultrasound was repeated and revealed an 11mm endometrial stripe. The norethindrone and aminocaproic acid was resumed. She continued treatment with intramuscular leuprolide acetate and norethindrone “add-back” therapy for a total of six months with successful amenorrhea. She was then transitioned to continuous combined oral contraceptive (Norethindrone-ethinyl estradiol 1.5mg-30mcg once daily) as the leuprolide acetate treatments were concluded. Multiple attempts were made to taper the norethindrone “add-back” but bleeding returned. A final transabdominal pelvic ultrasound revealed a 5 mm endometrial stripe and she has been maintained with continuous combined oral contraceptive and additional norethindrone as needed without recurrence of HMB.