Fabry's disease differential diagnosis: Difference between revisions

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|[[Sialidosis]] (Juvenile foem)<ref name="pmid22452439">{{cite journal| author=Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M | display-authors=etal| title=Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. | journal=Br J Dermatol | year= 2012 | volume= 166 | issue= 4 | pages= 712-20 | pmid=22452439 | doi=10.1111/j.1365-2133.2012.10742.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22452439  }}</ref>
|[[Sialidosis]] (Juvenile foem)<ref name="pmid22452439">{{cite journal| author=Zampetti A, Orteu CH, Antuzzi D, Bongiorno MR, Manco S, Gnarra M | display-authors=etal| title=Angiokeratoma: decision-making aid for the diagnosis of Fabry disease. | journal=Br J Dermatol | year= 2012 | volume= 166 | issue= 4 | pages= 712-20 | pmid=22452439 | doi=10.1111/j.1365-2133.2012.10742.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22452439  }}</ref>
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*Mean age : 2 years old
*Mean age<span> </span>: 2 years old
*Location: Diffuse
*Location: Diffuse
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|[[Chronic Venus insufficiency]]
|[[Chronic Venus insufficiency]]
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* History taking
*
*
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|[[Rheumatic disorders]]
|[[Rheumatic disorders]]
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* History taking
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*Should Investigate accompanying symptoms
*Should Investigate accompanying symptoms
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| rowspan="10" |
| rowspan="10" |
*Severe neuropathic pain, Limb pain ( Acroparesthesia), Burning palms and soles
*Severe neuropathic pain, Limb pain ( Acroparesthesia), Burning palms and soles
*Exacerbate by high temperature  
*Exacerbate by high temperature


*Mean age: 10 years old
*Mean age: 10 years old
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|[[Fibromyalgia]]
|[[Fibromyalgia]]
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* Absence of other Fabry's disease presentations ( [[Proteinuria]], [[Left ventricular hypertrophy|LVH]], [[angiokeratomas]].)
*Absence of other Fabry's disease presentations ( [[Proteinuria]], [[Left ventricular hypertrophy|LVH]], [[angiokeratomas]].)
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|[[Headache]] ([[Cluster headache|Cluster]])
|[[Headache]] ([[Cluster headache|Cluster]])
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* Attention to cluster diagnostic crateria
*Attention to cluster diagnostic crateria
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|[[Migraine]]
|[[Migraine]]
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* Should Investigate accompanying symptoms
*Should Investigate accompanying symptoms
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* Both can have white matter lesions (WML) in [[Magnetic resonance imaging|MRI]]<ref name="pmid20464614">{{cite journal| author=Albano B, Dinia L, Del Sette M, Gandolfo C, Sivori G, Finocchi C| title=Fabry disease in patients with migraine with aura. | journal=Neurol Sci | year= 2010 | volume= 31 Suppl 1 | issue=  | pages= S167-9 | pmid=20464614 | doi=10.1007/s10072-010-0314-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20464614  }}</ref>
*Both can have white matter lesions (WML) in [[Magnetic resonance imaging|MRI]]<ref name="pmid20464614">{{cite journal| author=Albano B, Dinia L, Del Sette M, Gandolfo C, Sivori G, Finocchi C| title=Fabry disease in patients with migraine with aura. | journal=Neurol Sci | year= 2010 | volume= 31 Suppl 1 | issue=  | pages= S167-9 | pmid=20464614 | doi=10.1007/s10072-010-0314-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20464614  }}</ref>
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|Diabetic neuropathy
|Diabetic neuropathy
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* Chronic progression  
*Chronic progression
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* acute crisis episodes is more favorable in Fabry's disease<ref name="pmid21619592">{{cite journal| author=Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C | display-authors=etal| title=Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. | journal=BMC Neurol | year= 2011 | volume= 11 | issue=  | pages= 61 | pmid=21619592 | doi=10.1186/1471-2377-11-61 | pmc=3126707 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21619592  }}</ref>
*acute crisis episodes is more favorable in Fabry's disease<ref name="pmid21619592">{{cite journal| author=Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C | display-authors=etal| title=Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. | journal=BMC Neurol | year= 2011 | volume= 11 | issue=  | pages= 61 | pmid=21619592 | doi=10.1186/1471-2377-11-61 | pmc=3126707 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21619592  }}</ref>
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|Recurrent fever syndromes
|Recurrent fever syndromes
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* Elevation of acute phase reactants<ref name="pmid30755957">{{cite journal| author=Graziani F, Ruggio A, Iaconelli A, Verrecchia E, Morrone A, Antuzzi D | display-authors=etal| title=Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin. | journal=Eur J Case Rep Intern Med | year= 2017 | volume= 4 | issue= 7 | pages= 000645 | pmid=30755957 | doi=10.12890/2017_000645 | pmc=6346910 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30755957  }}</ref>
*Elevation of acute phase reactants<ref name="pmid30755957">{{cite journal| author=Graziani F, Ruggio A, Iaconelli A, Verrecchia E, Morrone A, Antuzzi D | display-authors=etal| title=Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin. | journal=Eur J Case Rep Intern Med | year= 2017 | volume= 4 | issue= 7 | pages= 000645 | pmid=30755957 | doi=10.12890/2017_000645 | pmc=6346910 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30755957  }}</ref>
* Absence of other Fabry's disease presentations
*Absence of other Fabry's disease presentations
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|[[Porphyria]]
|[[Porphyria]]
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* The sequence of flares and remission periods in history is important.
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|[[Uremic neuropathy]]
|[[Uremic neuropathy]]
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* The elevated blood uremia level and renal insufficient findings.
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|[[Guillain-Barré syndrome|Guillain-Barre]]' syndrome
|[[Guillain-Barré syndrome|Guillain-Barre]]' syndrome
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* 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 
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|Hereditary [[neuropathy]]
|Hereditary [[neuropathy]]
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* Mean age: usually teenage or 20s or 30s
* Mostly affected: legs, feet, elbow wrist, or hand.
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Revision as of 09:42, 17 April 2022

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Differentiating Fabry's disease from other disease

Organ Sing/Symptom Fabry's disease Possible differential diagnosis DDx Clues Further info
Skin Angiokeratoma
 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
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
Fibromyalgia
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. ↑ 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. ↑ 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.
  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).
  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).
  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.
  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.
  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.
  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.
  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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