Manifestations of Fabry disease in placental tissue

J Inherit Metab Dis. 2006 Feb;29(1):106-11. doi: 10.1007/s10545-006-0196-0.


Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Manifestations of the disease in placental tissue have been reported only twice. We report for the first time on the biochemical, histological and genetic features of two cases: placenta A derived from a mother heterozygous for Fabry disease who gave birth to a hemizygous son, and placenta B obtained from a healthy mother who carried a heterozygous daughter. Biopsies of placentae A, B and of four healthy controls were taken directly after birth. Assessment of alpha-galactosidase A (alpha-Gal) activity was performed both in fetal leukocytes (derived from umbilical cord blood) and in the biopsy specimens. The tissue was further examined by electron microscopy, immunohistochemistry and biochemical analysis for the presence of storage material (ceramide trihexoside (CTH)). In placenta A, characteristic zebra bodies reflecting accumulated storage material were seen in all biopsies evaluated. CTH values were markedly elevated as compared to the controls and alpha-Gal activity in both fetal leukocytes and placental tissue was very low. Placenta B showed no storage material at all. CTH values were within the control range. alpha-Gal activity ranged from intermediate to near normal; enzyme activity in fetal leukocytes was significantly decreased. As placental tissue is mainly derived from fetal cells, we may conclude that, in a boy suffering from Fabry disease, extensive storage of CTH is already present at birth. As complications develop only around the age of 10 years, it may be not the CTH itself but secondary processes that cause cellular and organ damage.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fabry Disease / diagnosis*
  • Fabry Disease / metabolism*
  • Female
  • Heterozygote
  • Humans
  • Immunohistochemistry
  • Infant, Newborn
  • Lipids / chemistry
  • Male
  • Microscopy, Electron
  • Placenta / metabolism*
  • Placenta / ultrastructure
  • alpha-Galactosidase / metabolism


  • Lipids
  • alpha-Galactosidase