Back
For best output, select "Paper Size" as "A4" and "Margin" as "0" or "None".
To save or print to PDF, please select Print Destination > Save as PDF, enable Background Graphics under "More Settings", then click "Save".
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 (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to systemic accumulation of globotriaosylceramide. The classical phenotype predominantly affects males and is associated with severe, progressive organ involvement.
We report an autopsy case of a 40-year-old man with classical hemizygous FD undergoing hemodialysis who exhibited irreversible multiorgan damage. Since early childhood, he had experienced acroparesthesias precipitated by heat or physical exertion. He developed proteinuria in his teens and underwent a kidney biopsy at the age of 20, which revealed focal segmental glomerulosclerosis. An angiotensin II receptor blocker was initiated, but his renal function gradually deteriorated, and hemodialysis was started at the age of 30. He had recurrent transient ischemic attacks and left ventricular hypertrophy was subsequently noted during his 30s. At the age of 37, a newly appointed physician with experience in managing FD suspected the disease and referred him to our hospital. He had a family history of childhood-onset acroparesthesias in his mother and aunt, which resolved as they matured. α-galactosidase A activity was markedly reduced to 1.5 nmol/h/mL, and genetic analysis revealed the presence of the classical phenotype. He was diagnosed with FD based on his clinical manifestations, family history, and α-galactosidase A enzyme activity. Enzyme replacement therapy (ERT) with agalsidase α was initiated, leading to gradual improvement of his acroparesthesias. However, six months following the start of ERT, he experienced an ischemic stroke, and similar events recurred frequently. Consequently, his ERT was switched from agalsidase α to agalsidase β at the age of 38. Nevertheless, multiple ischemic strokes continued to occur, leading to gradual cognitive decline and the development of gait disturbance. In addition, serial echocardiographic evaluations demonstrated a marked progression of left ventricular hypertrophy. Two and a half years after the initiation of ERT, at the age of 40, he died due to cardiac arrest secondary to atrial fibrillation, and a pathological autopsy was performed.
Macroscopic examination revealed concentric left ventricular hypertrophy of the heart, marked renal atrophy with cystic changes, and extensive white matter necrosis in the brain. Histologically, myocardial smooth muscle cells exhibited significant cytoplasmic vacuolization, while glomerulosclerosis, tubular atrophy, interstitial infiltration, and numerous casts were observed in the kidneys. Vacuolation of brain parenchymal cells and intimal thickening of cerebral blood vessels were noted. Electron microscopy identified zebra bodies in both myocardial and renal cells.
A pathological examination confirmed irreversible organ damage, which was likely responsible for the limited efficacy of ERT in this case. This case highlights the importance of early diagnosis and treatment in FD.
