Fabry's disease differential diagnosis: Difference between revisions
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*Severe neuropathic pain, Limb pain ( Acroparesthesia), Burning palms and soles | *Severe neuropathic pain, Limb pain ( Acroparesthesia), Burning palms and soles | ||
*Exacerbate by high temperature | |||
*Mean age: 10 years old | *Mean age: 10 years old | ||
|[[Rheumatic disorders]] | |[[Rheumatic disorders]] | ||
| | | | ||
* Rheumatic Fever | *[[Rheumatic fever|Rheumatic Fever]] | ||
** Pain is self-limited, duration one month | **Pain is self-limited, duration one month | ||
* Juvenile dermatomyositis | *[[Juvenile dermatomyositis]] | ||
** Heliotrope rash | **[[Heliotrope rash]] | ||
** Elevated serum muscle enzymes | **Elevated serum muscle enzymes | ||
| | | | ||
|- | |- | ||
|[[Fibromyalgia]] | |[[Fibromyalgia]] | ||
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* 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 | |||
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|- | |- | ||
|[[Migraine]] | |[[Migraine]] | ||
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* 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> | |||
|- | |- | ||
|Diabetic neuropathy | |Diabetic neuropathy | ||
| | | | ||
* 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> | |||
|- | |- | ||
|Recurrent fever syndromes | |Recurrent fever syndromes | ||
| | | | ||
* 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 | |||
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Revision as of 12:15, 14 March 2022
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Risk calculators and risk factors for Fabry's disease differential diagnosis |
Differentiating Fabry's disease from other disease
| Organ | Sing/Symptom | Fabry's disease | Possible differential diagnosis | DDx Clues | Further info |
|---|---|---|---|---|---|
| Skin | Angiokeratoma |
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Fucosidosis[1] |
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| Sialidosis (Juvenile foem)[2] |
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| Acral pseudolymphomatous angiokeratoma of childhood[3] |
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| Hypohidrosis/Anhidrosis |
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Horner syndrome |
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| Topiramate usage |
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| Acetylcholine intoxication |
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| Ectodermal dysplasia |
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| Hyperhidrosis |
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Primary hyperhidrosis[6] |
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| Lymphedema | Chronic Venus insufficiency |
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| Rheumatic disorders |
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| Peripheral nervous system | Pain (Neuropathic) |
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Rheumatic disorders |
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| Fibromyalgia |
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| Headache (Cluster) |
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| Migraine |
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| Diabetic neuropathy |
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| Recurrent fever syndromes |
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| Porphyria | |||||
| Uremic neuropathy | |||||
| Guillain-Barre' syndrome | |||||
| Hereditary neuropathy |
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.