Departments of Pediatrics, Divisions of Medical Genetics, Duke University Medical Center, Durham, North Carolina, and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; and the Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, Virginia.
Obstet Gynecol. 2013 Dec;122(6):1246-54. doi: 10.1097/01.AOG.0000435451.86108.82.
To evaluate menorrhagia in a cohort of women with glycogen storage disease type I because it appears to be an under-recognized problem in females of reproductive age.
A retrospective chart review was performed on 13 menstruating patients with glycogen storage disease type I (age 23-48 years) for a diagnosis of menorrhagia.
Nine (69%) (confidence interval 0.39-0.91) women had development of menorrhagia. Median hemoglobin values in these patients were generally low (range 9.5-12.85 g/dL) but not different from those of the nonmenorrhagia group (hemoglobin range 9.55-11.0 g/dL) with glycogen storage disease type I. Four patients with menorrhagia required hospitalization or emergency department visits for treatment of menorrhagia. Two of the four patients hospitalized required blood transfusion, with an additional patient requiring a transfusion during pregnancy. Eight patients (89%) either were recommended to have or required medical or surgical treatment of their menorrhagia.
Glycogen storage disease type I is associated with menorrhagia. The evaluation should include assessment of coagulation functions and referral to a gynecologist, hematologist, or both, because bleeding diathesis and polycystic ovary syndrome are common in patients with glycogen storage disease type I.
评估糖原贮积病 I 型女性患者的月经过多，因为该病在育龄期女性中似乎是一个被低估的问题。
对 13 例患有糖原贮积病 I 型（年龄 23-48 岁）且月经正常的患者进行回顾性图表审查，以诊断月经过多。
9 名（69%）（置信区间 0.39-0.91）女性出现月经过多。这些患者的平均血红蛋白值通常较低（范围 9.5-12.85g/dL），但与糖原贮积病 I 型非月经过多组（血红蛋白范围 9.55-11.0g/dL）无差异。有 4 名月经过多患者因月经过多而需要住院或急诊治疗。其中 2 名住院患者需要输血，另有 1 名患者在怀孕期间需要输血。8 名患者（89%）接受了医学或手术治疗月经过多的建议或需要接受治疗。
糖原贮积病 I 型与月经过多有关。评估应包括凝血功能评估，并转介至妇科医生、血液科医生或两者，因为糖原贮积病 I 型患者常见出血倾向和多囊卵巢综合征。
