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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Heterozygous women exhibit symptoms of Fabry disease in a variety of ways; some are asymptomatic or have mild symptoms, while others, like men, can develop complications in the heart, kidneys, and cerebrovascular system, affecting organs throughout the body. Treatment with migalastat is one of the standard of care, however, data regarding the safety of disease-specific therapies during pregnancy and post-partum remain limited.
A 35-year-old woman presented after her first child was diagnosed with Fabry disease through newborn screening. Subsequent familial genetic analysis confirmed that she was heterozygous for a pathogenic GLA gene variant. She had proteinuria, and renal biopsy revealed predominantly epithelial damage with zebra bodies. Oral migalastat therapy was initiated at the age of 33. Despite the lack of established safety data for migalastat during pregnancy, she conceived her second child. Following repeated discussions with her family and careful evaluation of the risk of Fabry disease progression, it was decided that the therapeutic benefits outweighed the potential risks, and migalastat was continued throughout the pregnancy. Her Lyso-Gb3 level was 0.506 ng/mL before conception and transiently increased to 0.933 ng/mL during pregnancy but remained clinically stable. The pregnancy course was uneventful, and she delivered a healthy infant.
Although Fabry disease is X-linked, even female patients can develop significant organ involvement. Enzyme replacement therapy is the standard of care; however, data regarding the safety of disease-specific therapies during pregnancy and childbirth remain limited. With the increasing detection of Fabry disease through newborn screening, pregnancy has become an important clinical challenge in affected women. Evaluating the safety and efficacy of treatment during pregnancy is therefore essential. We present a case of a woman with Fabry disease who achieved a favorable pregnancy outcome while continuing migalastat therapy.
