Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report

Area of Science:

• Biochemistry
• Genetics
• Reproductive Medicine

Background:

• Gaucher disease is a genetic lysosomal storage disorder caused by glucocerebrosidase deficiency.
• Enzyme replacement therapy (ERT) using imiglucerase is a standard treatment for Gaucher disease.
• Pregnancy in Gaucher disease patients presents unique challenges requiring careful management.

Observation:

• A 27-year-old woman with type I Gaucher disease, who had undergone splenectomy and was receiving imiglucerase, underwent a managed pregnancy.
• A conservative approach with close maternal and fetal monitoring was implemented throughout the gestation.
• The patient received imiglucerase at doses ranging from 19-38 units/kg.

Findings:

• The pregnancy culminated in the delivery of a healthy male infant weighing 3180 g via cesarean section at 39 weeks gestation.
• The mother experienced only mild hematological complications.
• The puerperium period was uneventful, with no significant adverse events reported for mother or child.

Implications:

• This case demonstrates the feasibility and safety of continuing imiglucerase therapy during pregnancy for type I Gaucher disease.
• Effective management strategies can lead to successful pregnancy outcomes in women with Gaucher disease.
• Further research into risk assessment and optimal therapeutic approaches for Gaucher disease in pregnancy is warranted.