Gynecologic and obstetric aspects of Gaucherʹs disease: A survey of 53 patients

OBJECTIVE: We report our experience on the gynecologic and obstetric features of 53 female patients with Gauchierʹs disease. STUDY DESIGN: Each patient was interviewed for a detailed medical history, and all underwent a complete physical examination and laboratory work-up. RESULTS: Delay of puberty onset was encountered in two thirds of the patients without subsequent infertility. Heavy menstrual bleeding was a major problem and was best treatd with low-dose oral conraceptives. Of the 102 spontaneous pregnanciesʹ 25 (24.5%) ended in spontaneous first-trimesters abortions; 72 continued beyond the twenty-second week. Nine patients (27.7%) were diagnosed as having Gaucherʹs disease during their first pregnancies. Aggravation of thrombocytopenia and anemia were prominent features, but antepartum blood transfusion was not required. Early postpartum hemorrhage and fever were increased after both cesarean and vaginal deliveries. Development of bone crisis in seven women during the third trimester and early postpartum periods recurred in subsequent pregnancies. Genotypes had not influenced the gynecologic or obstetric manifestations. CONCLUSIONS: Gynecologic and obstetric complications play a significant role in this patient population, representing an additional burden to female patients with Gaucherʹs disease.