FABRY DISEASE
CAN HIDE IN PLAIN SIGHT
Fabry disease can blend in with other diseases. Symptoms vary, making diagnosis a challenge1,2
Fabry disease is a rare, progressive, pan-ethnic genetic disorder that may affect multiple organ systems2
The diagnosis is often delayed for a decade or more due to the rarity of the disease, high variability of presentation, and symptoms that are often nonspecific and resemble those of other diseases.1‑5
Potential differential diagnoses or misdiagnoses of Fabry disease1,2,4,6-8
Is it
or Fabry disease?
Prompt diagnosis is crucial so patients can receive Fabry disease–specific management.9
HCP, healthcare professional.
References: 1. Hoffmann B, Mayatepek E. Fabry disease—often seen, rarely diagnosed. Dtsch Arztebl Int. 2009;106(26):440-447. 2. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. 3. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93(2):112-128. 4. Marchesoni CL, Roa N, Pardal AM, et al. Misdiagnosis in Fabry disease. J Pediatr. 2010;156(5):828-831. 5. Reisin R, Perrin A, García-Pavía P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract. 2017;71(1):e12914. 6. Pieroni M, Namdar M, Olivotto I, Desnick RJ. Anderson-Fabry disease management: role of the cardiologist. Eur Heart J. 2024;45(16):1395-1409. 7. Antezana-Chavez E, Cianciulli TF, Hadid CL, et al. Value of electrocardiography to distinguish Fabry disease from sarcomeric hypertrophic cardiomyopathy. Am J Cardiol. 2022;178:131-136. 8. Geske JB, Jouni H, Aubry MC, Gersh BJ. Fabry disease with resting outflow obstruction masquerading as hypertrophic cardiomyopathy. J Am Coll Cardiol. 2014;63(17):e43. 9. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. 10. Monda E, Falco L, Palmiero G, et al. Cardiovascular involvement in Fabry’s disease: new advances in diagnostic strategies, outcome prediction and management. Card Fail Rev. 2023;9:e12.