Outcome of pregnancy in Gaucher disease patients treated and not treated with imiglucerase

Abstract

There are few published data available on pregnancy outcomes in Gaucher disease (GD) patients treated with imiglucerase (Cerezyme®, Genzyme Corporation, Cambridge, MA), even over 20 years of worldwide use of this therapy. A board of Brazilian physicians with experience in the management of GD met to discuss and review their patient data. The aim of this study consisted in evaluate pregnancy outcomes in GDpatients, treated and not treatedwith imiglucerase, and to investigate the effects of therapy on maternal and newborn health. Female GD patients with pregnancy history from 5 referral Brazilian centers were enrolled in this study under Ethics Committee approvals. Retrospective data were collected from medical records according to a template questionnaire and included demographic data, course of pregnancies and obstetric outcome data. Forty-seven GD patients who have had 103 pregnancies (mean 2.19 pregnancies per women) were included in this analysis. Mean current age was 42.6 years (24.8–68.9) and mean age at first infusion was 29.8 years (6.7–59.6). From the total number of pregnancies, 67 occurred before therapy (untreated pregnancies) and 36 occurred after patient had started treatment with imiglucerase (treated pregnancies). Of the 67 untreated pregnancies, spontaneous abortion rate was 19.4% (13/67) and ectopic pregnancy was reported in 2 cases. GD-related complications (mainly bleeding) were reported in 25/67 (37.3%) untreated pregnancies. History of bleeding/hemorrhage during pregnancy and postpartum period was the most frequent complication in non-treated patients, and was seen in 21/67 (31.3%) untreated pregnancies. Of these, two required blood transfusion. Worsening of other GD parameters was documented in 4 untreated pregnancies and included one episode of bone crisis resulting in walking impairment. Obstetric complications, such as pregnancyinduced hypertension, preeclampsia and eclampsia, were reported in 5 out of 52 (9.6%) untreated pregnancies that proceeded to term. Complications were markedly lower in imiglucerase-treated pregnancies (11/36, or 30.5%) compared with 46/67 (or 68.6%) non-treated pregnancies. Of 36 pregnancies exposed to imiglucerase, spontaneous abortion was reported in 2/36 (5.6%) and 94.4% pregnancies resulted in live births. Exacerbation of GD signs and symptoms throughout pregnancy was documented in 7/36 (19.4%) treated pregnancies and appeared to be more aggressive in two patients who stopped therapy during all or almost all pregnancies. Urinary tract infection occurred in 2/36 pregnancies. Based on collected data, bleeding events were extremely reduced in imiglucerase-treated pregnancies. Not one case was reported in this group. Favorable pregnancy outcomes were showed in approximately 70% of treated pregnancies, and full term birth rate was 86%. No congenital defects were reported in infants whose mothers were exposed to imiglucerase before or during pregnancy. All newborns were reported as normal and healthy. Although the studied sample was small, the authors conclude that imiglucerase had favorable effects on the outcomes of pregnancy, delivery and postpartum period in GD women, and it was safe for neonates, including exposure during the first trimester.