Fabry's disease differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Neepa Shah, M.B.B.S.[2] Associate Editor(s)-in-Chief:

Overview

Differentiating Fabry's disease from other disease

Skin manifestation
- Angiokeratoma : Fucosidosis^[1],Sialidosis (Juvenile foem)^[2], Acral pseudolymphomatous angiokeratoma of childhood^[3]
- Hypohidrosis/Anhidrosis :Horner syndrome, Topiramate usage, Acetylcholine intoxication, Ectodermal dysplasia
- Hyperhidrosis: Primary hyperhidrosis^[4]
- Lymphedema: Chronic Venus insufficiency, Rheumatic disorders
Peripheral nervous system
- Pain (Neuropathic): Rheumatic disorders, Fibromyalgia, Headache (Cluster), Migraine, Diabetic neuropathy, Recurrent fever syndromes, Porphyria, Uremic neuropathy , Guillain-Barre' syndrome, Hereditary neuropathy


Organ	Sing/Symptom	Fabry's disease	Possible differential diagnosis	DDx Clues	Further info
Skin	Angiokeratoma	Mean age: 17 years old Locations: Mostly Hips, Groin, Periumbilical	Fucosidosis^[1]	Mean age: 2 years old, the older patients more likely to have in examination Location: Varies involve Hips, Groin, Abdomen, external genitalia	The clinical appearance of the lesions may be indistinguishable. The light microscopic findings are indistinguishable. Should Investigate accompanying symptoms
			Sialidosis (Juvenile foem)^[2]	Mean age : 2 years old Location: Diffuse	The clinical appearance of the lesions may be indistinguishable. Should Investigate accompanying symptoms
			Acral pseudolymphomatous angiokeratoma of childhood^[3]	Mainly children Location: Trunk and exterimities	Should Investigate accompanying symptoms
	Hypohidrosis/Anhidrosis	Mean age: Mostly in the 20s ^[5]	Horner syndrome	Classic signs: Ptosis, Miosis, Anhidrosis	In children and infants Harlequin sign is more apparent than anhidrosis
			Topiramate usage	History taking
			Acetylcholine intoxication	History taking
			Ectodermal dysplasia	Accompanying with hair and teeth problems^[6]
	Hyperhidrosis	More common in females Mean age: Mostly in the 30s	Primary hyperhidrosis^[4]	Mean age: before 25 Focal Family history of idiopathic hyperhidrosis
	Lymphedema	Mostly Lower limbs^[7] Mean age: 37 in males, 47 in females ^[8]	Chronic Venus insufficiency	History taking	Should Investigate accompanying symptoms
	Lymphedema		Rheumatic disorders	History taking	Should Investigate accompanying symptoms
Peripheral nervous system	Pain (Neuropathic)	Severe neuropathic pain, Limb pain ( Acroparesthesia), Burning palms and soles Exacerbate by high temperature Mean age: 10 years old	Rheumatic disorders	Rheumatic Fever Pain is self-limited, duration one month Juvenile dermatomyositis Heliotrope rash Elevated serum muscle enzymes
			Fibromyalgia	Absence of other Fabry's disease presentations ( Proteinuria, LVH, angiokeratomas.)
			Headache (Cluster)	Attention to cluster diagnostic crateria
			Migraine	Should Investigate accompanying symptoms	Both can have white matter lesions (WML) in MRI^[9]
			Diabetic neuropathy	Chronic progression	acute crisis episodes is more favorable in Fabry's disease^[10]
			Recurrent fever syndromes	Elevation of acute phase reactants^[11] Absence of other Fabry's disease presentations
			Porphyria	The sequence of flares and remission periods in history is important.
			Uremic neuropathy	The elevated blood uremia level and renal insufficient findings.
			Guillain-Barre' syndrome	Typical symptoms: Both sides of the body Change in sensation or pain beginning from hands or feeds and spreading to upper parts of the body
			Hereditary neuropathy	Mean age: usually teenage or 20s or 30s Mostly affected: legs, feet, elbow wrist, or hand.

References

↑ ^1.0 ^1.1 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).
↑ ^2.0 ^2.1 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.
↑ ^3.0 ^3.1 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.
↑ ^4.0 ^4.1 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).
↑ Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G; et al. (2007). "Fabry disease and the skin: data from FOS, the Fabry outcome survey". Br J Dermatol. 157 (2): 331–7. doi:10.1111/j.1365-2133.2007.08002.x. PMID 17573884.
↑ Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ; et al. (2022). "Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review". Pediatr Dermatol. 39 (1): 84–90. doi:10.1111/pde.14905. PMID 34989033 Check |pmid= value (help).
↑ Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E (1994). "Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings". J Inherit Metab Dis. 17 (6): 724–31. doi:10.1007/BF00712015. PMID 7707696.
↑ Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G; et al. (2007). "Fabry disease and the skin: data from FOS, the Fabry outcome survey". Br J Dermatol. 157 (2): 331–7. doi:10.1111/j.1365-2133.2007.08002.x. PMID 17573884.
↑ Albano B, Dinia L, Del Sette M, Gandolfo C, Sivori G, Finocchi C (2010). "Fabry disease in patients with migraine with aura". Neurol Sci. 31 Suppl 1: S167–9. doi:10.1007/s10072-010-0314-5. PMID 20464614.
↑ Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C; et al. (2011). "Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel". BMC Neurol. 11: 61. doi:10.1186/1471-2377-11-61. PMC 3126707. PMID 21619592.
↑ Graziani F, Ruggio A, Iaconelli A, Verrecchia E, Morrone A, Antuzzi D; et al. (2017). "Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin". Eur J Case Rep Intern Med. 4 (7): 000645. doi:10.12890/2017_000645. PMC 6346910. PMID 30755957.

[pmid33266441-1] 1.0 ^1.1 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).

[pmid22452439-2] 2.0 ^2.1 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.

[pmid20465644-3] 3.0 ^3.1 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.

[pmid32726555-4] 4.0 ^4.1 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).

[pmid17573884-5] Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G; et al. (2007). "Fabry disease and the skin: data from FOS, the Fabry outcome survey". Br J Dermatol. 157 (2): 331–7. doi:10.1111/j.1365-2133.2007.08002.x. PMID 17573884.

[pmid34989033-6] Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ; et al. (2022). "Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review". Pediatr Dermatol. 39 (1): 84–90. doi:10.1111/pde.14905. PMID 34989033 Check |pmid= value (help).

[pmid7707696-7] Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E (1994). "Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings". J Inherit Metab Dis. 17 (6): 724–31. doi:10.1007/BF00712015. PMID 7707696.

[pmid175738842-8] Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G; et al. (2007). "Fabry disease and the skin: data from FOS, the Fabry outcome survey". Br J Dermatol. 157 (2): 331–7. doi:10.1111/j.1365-2133.2007.08002.x. PMID 17573884.

[pmid20464614-9] Albano B, Dinia L, Del Sette M, Gandolfo C, Sivori G, Finocchi C (2010). "Fabry disease in patients with migraine with aura". Neurol Sci. 31 Suppl 1: S167–9. doi:10.1007/s10072-010-0314-5. PMID 20464614.

[pmid21619592-10] Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C; et al. (2011). "Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel". BMC Neurol. 11: 61. doi:10.1186/1471-2377-11-61. PMC 3126707. PMID 21619592.

[pmid30755957-11] Graziani F, Ruggio A, Iaconelli A, Verrecchia E, Morrone A, Antuzzi D; et al. (2017). "Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin". Eur J Case Rep Intern Med. 4 (7): 000645. doi:10.12890/2017_000645. PMC 6346910. PMID 30755957.

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Fabry's disease differential diagnosis

Overview

Differentiating Fabry's disease from other disease

References

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