title: Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.
abstract: Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A, resulting in the accumulation of globotriaosylceramide. Many women experience symptoms, but the understanding of placental and fetal aspects of the disease is limited. We report the pregnancy outcome in and placental pathology of a 37-year-old woman with Fabry disease. She became pregnant 2 years after starting enzyme replacement therapy and continued therapy throughout her pregnancy. At 38 weeks' gestation, she gave birth to a healthy boy with the same maternal Fabry mutation. The present case describes more extensive placental involvement by Fabry disease than has been previously reported. Globotriaosylceramide deposits were found within multiple cell types of the placenta, cord, and membranes. Because of the small numbers of cases described in the literature for comparison, it remains unclear if placental tissues are also targeted by enzyme replacement therapy.
authors.affiliation: Department of Pathology, Genzyme Corporation, Framingham, MA 01701-9322, USA. beth.thurberg@genzyme.com
authors.forename: Beth L
authors.initials: BL
authors.lastname: Thurberg
authors.forename: Juan M
authors.initials: JM
authors.lastname: Politei
mesh_terms: D000328:Adult; D056947:Enzyme Replacement Therapy; D005321:Extraembryonic Membranes / Q000378:metabolism / Q000473:pathology; D000795:Fabry Disease / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D020125:Mutation, Missense; D010920:Placenta / Q000187:drug effects / Q000378:metabolism / Q000473:pathology*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D011256:Pregnancy Outcome; D016896:Treatment Outcome; D014281:Trihexosylceramides / Q000378:metabolism*; D014470:Umbilical Cord / Q000378:metabolism / Q000473:pathology*; D000519:alpha-Galactosidase / Q000235:genetics / Q000378:metabolism / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase; C459420:agalsidase beta