One of the reasons that can lead to a stroke in young people is Fabry’s disease. This is one of the rare, genetically determined diseases of the X – linked type of inheritance, belonging to the group of lysosomal diseases of accumulation (synonyms: diffuse universal angiokeratoma, hereditary dystonic lipidosis, deficiency of alpha galactosidase A). The genetics of Fabry disease is due to mutations in the GLA gene characterized by a significant decrease in the activity or absence of the enzyme α-galactosidase A. These deviations result in the accumulation of glycosphingolipids, namely, ceramide accumulated in the cytoplasm or lysosomes of cells of various organs and tissues, disrupting their function, causing ischemia and tissue fibrosis. A specific laboratory diagnosis is the determination of the activity of alpha-galactosidase A. In Fabry’s disease, the activity of alpha-galactosidase A in men in men is always reduced, and in women, the activity of GLA may be near the lower limit of norm, or slightly lower, or normal. In Fabry disease symptomatic therapy and enzyme replacement therapy are used to reduce the severity and prevent the symptoms of Fabry disease. Antiplatelet therapy should be the basis of treatment. With timely access to enzyme replacement therapy, the prognosis is favorable.
2. Vedder A.C., Strijland A., vd Bergh Weerman M.A. et al. (2006) Manifestations of Fabry disease in placental tissue. J. Inherit. Metab. Dis., 29, 106–111.
3. Poorthuis B.J., Wevers R.A., Kleijer W.J. et al. (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum.Genet, 105(1–2), 151–156.
4. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. (1999) Prevalence of lysosomal storage disorders. JAMA, 281, 249–254.
5. Zarate Y.A., Hopkin R.J. (2008) Fabry’s disease. Lancet, 372 (9647), 1427–1435.
6. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, et al. (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet, 105, 151-156.
7 .Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ (2006) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet, 79, 31-40.
8. Warnock D. G., West M. L.(2006) Diagnosis and management of kidney involvement in Fabry disease. Adv. Chronic Kidney Dis,13, 138–147.
9. Lyon M. F. (1961) Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature, 190, 372–373.
10. Eng C. M., Desnick R. J. (1994) Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum. Mutat, 3, 103–111.
11. Ashton-Prolla P., Tong B., Shabbeer J., Astrin K. H., Eng C. M., Desnick R. J.(2000) Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J. Investig. Med, 48, 227–235.