Objective: To date there has been little published experience with enzyme replacement therapy in pregnant women with symptomatic type I Gaucher disease.
Study Design: We describe six patients, including three with repeated early pregnancy loss, five of whom successfully carried pregnancies to term; the last pregnancy was terminated because of pulmonary hypertension.
Results: All pregnancies were uneventful and five resulted in healthy newborns.
Conclusion: We concluded that in patients with Gaucher disease of childbearing age,for whom obstetric complications are an important symptom of the disease, pregnancy is not contraindicated (unless there is evidence or suspicion of pulmonary hypertension) and treatment should not be interrupted because the clinical improvement engendered by enzyme replacement therapy is conducive to fewer complications during pregnancy and delivery and post partum.
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