OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSION: 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.
Menorrhagia is an under-reported complication in glycogen storage disease type 1.
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.
Corresponding author: Vellore Kasturi, Duke University Medical Center, GSRB1, 905 La Salle Street, DUMC 103857, Durham, NC 27710; e-mail: firstname.lastname@example.org.
Supported by the Children's Fund for Glycogen Storage Disease Research and the Association for Glycogen Storage Disease, United States.
The authors thank the glycogen storage disease type I patient population who participated in this study.
Presented in part at the American Society of Human Genetics Annual Meeting, Philadelphia, Pennsylvania, November 11–15, 2008.
Financial Disclosure The authors did not report any potential conflicts of interest.