Revista de trastornos genéticos e informes genéticos

Treatment with Agalsidase Alfa during Pregnancy in a Heterozygous Female with Fabry Disease

Antonio Pisani, Giuseppe Bifulco, Attilio Di Spiezio Sardo and Eleonora Riccio

Introduction: Enzyme replacement therapy (ERT) is the cornerstone of the treatment of Fabry disease (FD), with either agalsidase alfa or beta. Both preparations have been shown to be safe and effective in patients with FD, but there are very few data on the safety of ERT during pregnancy. Here we report a case of a 22-year-old woman with FD who received ERT with agalsidase alfa during the pregnancy.

Case report: The patient, a 22-year-old woman, was diagnosed with FD three years prior to pregnancy. Because of the presence of pain and proteinuria, she started treatment with agalsidase alfa (0.2 mg/kg every 2 weeks) with a substantial amelioration of the disease over time. When the patient informed us that she was pregnant, consensus was reached on continuation of ERT during pregnancy. The dose and frequency of intravenous ERT remained unchanged throughout pregnancy and agalsidase alfa infusions were well tolerated. At a gestational age of 39 weeks, the patient gave birth a healthy boy via a natural delivery.

Discussion: In our opinion, and supported by the findings of literature, pregnancy should not be a contraindication of ERT. ERT with agalsidase alfa during pregnancy seems to be well tolerated, without negative effects on the mother or child. Keywords Fabry disease; Enzyme replacement therapy; Agalsidase alfa; Pregnancy