Fabry's disease differential diagnosis

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Differentiating Fabry's disease from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

Fabry's disease is often misdiagnosed due to its rarity and wide range of non-specific clinical manifestations. Fabry's disease be differentiated from various kind of condition based on the symptoms and organ involvement.

Differentiating Fabry's disease from other diseases

Skin manifestation


Peripheral nervous system


Gastrointestinal symptoms


Eyes


Ears


Heart


Kidneys


Central nervous system

References

  1. Stepien KM, Ciara E, Jezela-Stanek A (2020). "Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series". Genes (Basel). 11 (11). doi:10.3390/genes11111383. PMC 7700486 Check |pmc= value (help). PMID 33266441 Check |pmid= value (help).
  2. Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M; et al. (2012). "Angiokeratoma: decision-making aid for the diagnosis of Fabry disease". Br J Dermatol. 166 (4): 712–20. doi:10.1111/j.1365-2133.2012.10742.x. PMID 22452439.
  3. Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S (2010). "Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature". Int J Dermatol. 49 (2): 184–8. doi:10.1111/j.1365-4632.2009.04203.x. PMID 20465644.
  4. Gorelick J, Friedman A (2020). "Diagnosis and Management of Primary Hyperhidrosis: Practical Guidance and Current Therapy Update". J Drugs Dermatol. 19 (7): 704–710. doi:10.36849/JDD.2020.5162. PMID 32726555 Check |pmid= value (help).
  5. Hoffmann B, Mayatepek E (2009). "Fabry disease-often seen, rarely diagnosed". Dtsch Arztebl Int. 106 (26): 440–7. doi:10.3238/arztebl.2009.0440. PMC 2704393. PMID 19623315.