Fabry Disease presentation for Medical English 4

This was presentation for a class.

1. proteins lipids carbohydrates enzymes Image 1 Image 2

2. ALPHA-GALACTOSIDASE A GLYCOSPHINGOLIPIDS cell signalling , recognition , immunity and energy storage CONSEQUENCES? Image 3 Image 4

3. THE TABLE O F CONTENTS HISTORY, PREVALENCE AND ETIOLOGY PATHOPHYSIOLOGY AND BIOCHEMISTRY SIGNS AND SYMPTOMS DIAGNOSIS, PROGNOSIS AND TREATMENT.

4. HISTORY, PREVALENCE & ETIOLOGY Fabry disease was first described by dermatologist Johannes Fabry and surgeon William Anderson at the end of the 19th century . rare genetic disorder all ethnic, racial and demographic groups 1 in 120,000 to 1 in 40,000 individuals Image 5

5. The location of the gene GLA on the X chromosome. Image 6 Fabry disease is caused by mutations in the GLA gene located on the X chromosome neither recessive nor dominant 70% of females show clinical manifestations of the disease NOT „ carriers ”  heterozygotes

6. globotriaosylceramide degraded as part of the normal recycling of old erythrocytes and other types of cells nervous system kidney, liver, and spleen in smaller amounts accumula tion  the symptoms and complications of Fabry disease PATHOPHYSIOLOGY & BIOCHEMISTRY ceram i de backbone ( fatty acid linked to a sphingosine ) sugar galactose N- acetylglucosamine Image 7

7. SIGNS & SYMPTOMS Symptoms depend on a couple of factors : the severity of the enzyme deficiency the age at which the disease is diagnosed Subdivisions : TYPE 1 ( classic phenotype ) TYPE 2 phenotype microvascular system kidney podocytes cardiomyocytes ACROPARESTHESIA FEVER & CHILLS HYPOHIDROSIS OR ANHIDROSIS SKIN RASHES & LESIONS GASTROINTESTINAL ISSUES RENAL INSUFFICIENCY & FAILURE CARDIAC DISEASE CEREBROVASCULAR COMPLICATIONS RESPIRATORY ABNORMALITIES Image 9 MULTISYSTEMIC INVOLVEMENT  major organ failure & premature death

8. DIAGNOSIS, PROGNOSIS & TREATMENT FABRY CRISES  ER genetic testing, enzyme activity tests, and a thorough anamnesis ENZYME REPLACEMENT THERAPY aims to reduce the accumulation of Gb3 in the cells and prevent further progression of the disease Fabry disease shortens average life expectancy by approx. 15 years for males and 5 years for females Image 10

9. Thank you for your time! REFERENCES: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8054551/   https://rarediseases.org/rare-diseases/fabry-disease/?filter=ovr-ds-resources   https://fabry-institute.com/burden-of-disease/epidemiology-of-fabry-disease https://pubchem.ncbi.nlm.nih.gov/compound/Gb3Cer https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/globotriaosylceramide https://fabrydiseasenews.com/health-insight/dealing-with-fabry-crises/ https://www.discoverfabry.com/ Mehta A, Desnick RJ. Fabry disease. Orphanet J Rare Dis. 2010;5:11 Fabry disease: a review of the current knowledge and future perspectives" by M. A. Beck and L. M. Orphanet Journal of Rare Diseases (2014) "Fabry disease: diagnosis, management, and future therapies" by K. A. Phillips and R. A. Desnick in Expert Review of Orphan Drugs (2011) "Fabry disease: a model for lysosomal storage disorders" by J. W. Sly and A. E. Wight in The Journal of Clinical Investigation (2010) "Fabry disease: a review of the phenotype and management" by T. M. Wilcox and J. A. Eng in American Journal of Medical Genetics Part C: Seminars in Medical Genetics (2015) "Fabry disease: a review" by C. H. Hendriksz and R. J. A. Wanders in Orphanet Journal of Rare Diseases (2008)