PPM - Management of Fabry Disease (FD)-Description and References

Description and References

Pdf Summary

The management module on Fabry Disease (FD) focuses on monitoring and clinical management according to published guidelines. Fabry Disease is a genetic lysosomal storage disorder caused by mutations in the GLA gene, resulting in a deficiency of the enzyme alpha-galactosidase A (a-gal A). This deficiency leads to the accumulation of globotriaosylceramide in lysosomes throughout the body. The disease manifests differently based on enzyme activity levels: <br /><br />- **Classic Form:** Occurs in males with less than 1% of a-gal A activity, presenting in childhood or adolescence. Symptoms include acroparesthesias (pain attacks), anhidrosis (inability to sweat), proteinuria (protein in urine), and gastrointestinal symptoms. Without treatment, it can progress to end-stage kidney disease, cardiac issues, and cerebrovascular disease.<br /><br />- **Late-Onset Form:** Affects males with over 1% enzyme activity, often presenting with cardiovascular symptoms like left ventricular hypertrophy, cardiomyopathy, arrhythmia, and potential renal issues.<br /><br />- **Females:** As heterozygotes, females generally experience milder and later-onset symptoms.<br /><br />Treatment options include enzyme replacement therapy (ERT) and chaperone therapy (CT), the latter being available to adults with amenable GLA variants. Continuous monitoring of disease manifestations and symptomatic therapy is crucial.<br /><br />Key literature references supporting this management module include:<br />1. Recommendations for diagnosis and treatment in pediatric patients by Germain et al., published in *Clinical Genetics* (2019).<br />2. Comprehensive insights into Fabry Disease by Mehta and Hughes, available on GeneReviews.<br />3. Management guidelines for adult patients by Ortiz et al., published in *Molecular Genetics and Metabolism* (2018).<br /><br />These references provide essential information and consensus on the diagnosis, management, and therapeutic approaches for individuals diagnosed with Fabry Disease.

Keywords

Fabry Disease

GLA gene

alpha-galactosidase A

lysosomal storage disorder

enzyme replacement therapy

chaperone therapy

Classic Form

Late-Onset Form

symptom monitoring

clinical management