Menorrhagia in Patients With Type I Glycogen Storage Disease

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

“…45 Reduced platelet adhesiveness, abnormal platelet aggregation, and impaired release of adenosine diphosphate in response to collagen and epinephrine have been observed. The platelet defects are secondary to the systemic metabolic abnormalities and may be corrected by improving control of the metabolic state.…”

“…Some patients with GSD I have features suggestive of a von Willebrand disease-like defect with reduced von Willebrand factor antigen and/or dysfunctional von Willebrand factor. Bleeding manifestations include epistaxis, easy bruising, menorrhagia, 45 and excessive bleeding during surgical procedures. Although dietary intervention can ameliorate the…”

“…Menorrhagia appears to be a problem in females of reproductive age with GSD I. 44,45 Interventions have included hormonal and nonhormonal treatments. Specific questions documenting the occurrence of menorrhagia or irregular menstrual bleeding should be part of the patient's history; this area seems to be often overlooked because care providers are focused on other aspects of the disease.…”

“…Management of females with GSD I should include a multidisciplinary approach including the expertise of a gynecologist familiar with GSD I. 45 This complication should be considered when reviewing the history of female patients with GSD I and in the management of these cases.…”

Long‐term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy

“…Menorrhagia (Austin et al 2013) Not described Bleeding tendency ) Brittle bones noted on necropsy of dog R Osteopenia/osteoporosis Rake et al 2002;Minarich et al 2012) Growth failure (Brooks et al 2013) Growth failure Moraru et al 2007) Intermittent diarrhea noted in many dogs (unpublished observation)…”