Successful Management of Pregnancy in a Patient With Fabry Disease Receiving Continuous Enzyme Replacement Therapy: A Case Report and Literature Review

Fabry disease is an X-linked lysosomal storage disorder characterized by deficient or reduced α-galactosidase A activity, resulting in the progressive accumulation of globotriaosylceramide in vascular endothelial cells. Although traditionally considered an X-linked recessive disorder predominantly affecting the male population, the heterozygous female population frequently develops significant clinical manifestations. Pregnancies complicated by Fabry disease are associated with an increased risk of hypertensive disorders of pregnancy and exacerbation of Fabry disease-specific symptoms. While enzyme replacement therapy and chaperone therapy have revolutionized disease management, the rarity of Fabry disease has precluded the establishment of consensus guidelines for pregnancy management. We present a case of successful maternal and perinatal management in a pregnant woman with Fabry disease who maintained α-galactosidase A therapy throughout pregnancy, accompanied by a comprehensive literature review of 21 additional cases. Our review revealed predominantly favorable outcomes with enzyme replacement therapy during pregnancy, with lower rates of proteinuria (9.1% vs. 37.2%, p = 0.01) compared to historical Fabry disease cases without enzyme replacement therapy. Common prepregnancy symptoms included proteinuria (45.5%), limb pain (40.9%), and acroparesthesia (31.8%), with symptom exacerbation during pregnancy including renal dysfunction (13.6%) and limb pain (9.1%) despite continued therapy. Pregnancy complications included hypertensive disorders (13.6%), preeclampsia (9.1%), and preterm delivery (9.1%). No congenital anomalies were reported among the newborns. Our findings suggest that enzyme replacement therapy can be safely maintained during pregnancy with careful monitoring and multidisciplinary management involving Fabry disease specialists for optimal maternal and fetal outcomes.