Fabry's disease differential diagnosis

	Fabry's disease Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fabry's disease from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Fabry's disease differential diagnosis On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Fabry's disease differential diagnosis All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Fabry's disease differential diagnosis
CDC on Fabry's disease differential diagnosis
Fabry's disease differential diagnosis in the news
Blogs on Fabry's disease differential diagnosis
Directions to Hospitals Treating Fabry's disease
Risk calculators and risk factors for Fabry's disease differential diagnosis

Overview

Differentiating Fabry's disease from other disease


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 ^[4]	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^[5]
	Hyperhidrosis	More common in females Mean age: Mostly in the 30s	Primary hyperhidrosis^[6]	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

↑ 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).
↑ 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.
↑ 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.
↑ 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).
↑ 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).
↑ 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] 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] 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] 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.

[pmid17573884-4] 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.

[pmid34989033-5] 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).

[pmid32726555-6] 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).

[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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

Fabry's disease differential diagnosis

Overview

Differentiating Fabry's disease from other disease

References

Navigation menu