Fabry's disease differential diagnosis: Difference between revisions

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==Differentiating Fabry's disease from other disease==
[[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
*Skin manifestation
**Angiokeratoma<span> </span>: [[Fucosidosis]]<ref name="pmid33266441" />,[[Sialidosis]] (Juvenile foem)<ref name="pmid22452439" />, [[Acral pseudolymphomatous]] angiokeratoma of childhood<ref name="pmid20465644" />
**Angiokeratoma: [[Fucosidosis]]<ref name="pmid33266441">{{cite journal| author=Stepien KM, Ciara E, Jezela-Stanek A| title=Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. | journal=Genes (Basel) | year= 2020 | volume= 11 | issue= 11 | pages=  | pmid=33266441 | doi=10.3390/genes11111383 | pmc=7700486 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33266441  }}</ref>,[[Sialidosis]] (Juvenile form)<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>, [[Acral pseudolymphomatous]] angiokeratoma of childhood<ref name="pmid20465644">{{cite journal| author=Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S| title=Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature. | journal=Int J Dermatol | year= 2010 | volume= 49 | issue= 2 | pages= 184-8 | pmid=20465644 | doi=10.1111/j.1365-4632.2009.04203.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20465644  }}</ref>
**[[Hypohidrosis]]/[[Anhidrosis]]<span> </span>:[[Horner syndrome|Horner syndrome,]] [[Topiramate]] usage, [[Acetylcholine]] intoxication, [[Ectodermal dysplasia]]
**[[Hypohidrosis]]/[[Anhidrosis]]<span> </span>:[[Horner syndrome|Horner syndrome,]] [[Topiramate]] usage, [[Acetylcholine]] intoxication, [[Ectodermal dysplasia]]
**[[Hyperhidrosis]]: [[Primary hyperhidrosis]]<ref name="pmid32726555" />
**[[Hyperhidrosis]]: [[Primary hyperhidrosis]]<ref name="pmid32726555">{{cite journal| author=Gorelick J, Friedman A| title=Diagnosis and Management of Primary Hyperhidrosis: Practical Guidance and Current Therapy Update. | journal=J Drugs Dermatol | year= 2020 | volume= 19 | issue= 7 | pages= 704-710 | pmid=32726555 | doi=10.36849/JDD.2020.5162 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32726555  }}</ref>
**[[Lymphedema]]: [[Chronic Venus insufficiency]], [[Rheumatic disorders]]
**[[Lymphedema]]: [[Chronic Venus insufficiency]], [[Rheumatic disorders]]
<br />
*[[Peripheral nervous system]]
*[[Peripheral nervous system]]
**[[Pain]] ([[Neuropathic]]): [[Rheumatic disorders]], [[Fibromyalgia]], [[Headache]] ([[Cluster headache|Cluster]]), [[Migraine]], [[Diabetic neuropathy]], Recurrent fever syndromes, [[Porphyria]], [[Uremic neuropathy]] , [[Guillain-Barré syndrome|Guillain-Barre]]' syndrome, Hereditary [[neuropathy]]
**[[Pain]] ([[Neuropathic]]): [[Rheumatic disorders]], [[Fibromyalgia]], [[Headache]] ([[Cluster headache|Cluster]]), [[Migraine]], [[Diabetic neuropathy]], Recurrent fever syndromes, [[Porphyria]], [[Uremic neuropathy]] , [[Guillain-Barré syndrome|Guillain-Barre]]' syndrome, Hereditary [[neuropathy]]


{| class="wikitable"
<br />
|+
 
!Organ
* [[Gastrointestinal]] symptoms
!Sing/Symptom
** [[Abdominal pain]], [[diarrhea]], [[constipation]]: [[Gastritis]], [[duodenal ulcer]], [[celiac disease]], [[gastrointestinal hemorrhage]], [[Crohn's disease|Crohn’s disease]], [[ulcerative colitis]], [[diverticulitis]], functional [[Dyspepsia, functional|dyspepsia]], [[irritable bowel syndrome]], [[Familial mediterranean fever|familial Mediterranean fever]]
!Fabry's disease
 
!Possible differential diagnosis
<br />
!DDx Clues
 
!Further info
* Eyes
|-
** [[Cornea verticillate]] :Therapy with amiodarone, [[flecainide]], [[tamoxifen]]; [[fucosidosis]]
| rowspan="10" |Skin
** [[Tortuositas vasorum]]: [[Diabetes mellitus]], [[Hypertension|arterial hypertension]], [[nephrotic syndrome]], [[neurofibromatosis type 1]], [[fibromuscular dysplasia]], [[Rendu-Osler-Weber disease]], [[Velocardiofacial syndrome]]
| rowspan="3" |[[Angiokeratoma]]<br />
** [[Uveitis]]: [[Rheumatic disorders]], [[tubulointerstitial nephritis and uveitis syndrome (TINU)]], [[Bechet's disease]], [[sarcoidosis]], [[Crohn’s disease]]
| rowspan="3" |
** [[Conjunctival aneurysms]]: [[Kawasaki syndrome|Kawasaki syndrom]], [[Diabetes mellitus]]
*Mean age: 17 years old
 
*Locations: Mostly [[Hip (anatomy)|Hips]], [[Groin area|Groin]], [[Periumbilical]]
<br />
|[[Fucosidosis]]<ref name="pmid33266441">{{cite journal| author=Stepien KM, Ciara E, Jezela-Stanek A| title=Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series. | journal=Genes (Basel) | year= 2020 | volume= 11 | issue= 11 | pages=  | pmid=33266441 | doi=10.3390/genes11111383 | pmc=7700486 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33266441  }}</ref>
 
|
* Ears:
*Mean age: 2 years old, the older patients more likely to have in examination
** Acute/chronic [[hearing loss]]: [[Apoplexy]], [[multiple sclerosis]], [[leopard syndrome]]
*Location: Varies involve Hips, Groin, Abdomen, external genitalia
** [[Tinnitus]]: [[Otosclerosis]], [[borreliosis]], [[sudden deafness]], [[Meniere's disease]], [[acoustic neurinoma]]  
** [[Dizziness]]: [[Benign paroxysmal positional vertigo]], [[Meniere's disease]], [[vestibular neuritis]], [[cerebellar/brain stem infarction]]
 
<br />
 
* Heart
** [[Angina pectoris]], [[myocardial infarction]]: [[Atherosclerosis]]
** [[Palpitations]]: [[Atrial fibrillation]], [[Wolf-Parkinson-White syndrome]], [[hyperthyroidism]], [[drug induced palpitations]]
** [[Cardiomyopathy|Cardiomyopathy:]] Mitochondriopathies, [[Long QT syndrome]], [[myocarditis]], [[Pompe disease]], [[Niemann-Pick disease]], hemochromatosis, [[Duchenne muscular dystrophy|Duchenne]]/[[Becker's muscular dystrophy|Becker]] muscular dystrophy, [[neurofibromatosis type 1]], [[systemic Lupus erythematosus]], [[rheumatoid arthritis]], [[dermatomyositis]]
** [[Valvular heart disease|Valvular]] disorders: [[Endocarditis]], [[rheumatic disorders]], [[mucopolysaccharidoses]]
** Impaired variability of cardiac frequency :[[Arterial hypertension]], [[mitral valve prolapse]], [[diabetes mellitus]], [[Sjogren syndrome]], [[MELAS syndrome]], [[obstructive sleep apnea]]


<br />
<br />
|
*The clinical appearance of the lesions may be indistinguishable.
*The light microscopic findings are indistinguishable.
*Should Investigate accompanying symptoms
|-
|[[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>
|
*Mean age<span> </span>: 2 years old
*Location: Diffuse
|
*The clinical appearance of the lesions may be indistinguishable.
*Should Investigate accompanying symptoms
|-
|[[Acral pseudolymphomatous]] angiokeratoma of childhood<ref name="pmid20465644">{{cite journal| author=Chedraoui A, Malek J, Tamraz H, Zaynoun S, Kibbi AG, Ghosn S| title=Acral pseudolymphomatous angiokeratoma of children in an elderly man: report of a case and review of the literature. | journal=Int J Dermatol | year= 2010 | volume= 49 | issue= 2 | pages= 184-8 | pmid=20465644 | doi=10.1111/j.1365-4632.2009.04203.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20465644  }}</ref>
|
*Mainly children
*Location: Trunk and exterimities
|
*Should Investigate accompanying symptoms
|-
| rowspan="4" |[[Hypohidrosis]]/[[Anhidrosis]]
| rowspan="4" |
*Mean age: Mostly in the 20s <ref name="pmid17573884">{{cite journal| author=Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G | display-authors=etal| title=Fabry disease and the skin: data from FOS, the Fabry outcome survey. | journal=Br J Dermatol | year= 2007 | volume= 157 | issue= 2 | pages= 331-7 | pmid=17573884 | doi=10.1111/j.1365-2133.2007.08002.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17573884  }}</ref>
|[[Horner's syndrome|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<ref name="pmid34989033">{{cite journal| author=Kohn LL, Braun M, Cordoro KM, McCalmont TH, Shah SD, Frieden IJ | display-authors=etal| title=Skin and Mucosal Manifestations in NEMO Syndrome: A Case Series and Literature Review. | journal=Pediatr Dermatol | year= 2022 | volume= 39 | issue= 1 | pages= 84-90 | pmid=34989033 | doi=10.1111/pde.14905 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=34989033  }}</ref>
|
|-
|[[Hyperhidrosis]]
|
*More common in females
*Mean age: Mostly in the 30s
|[[Primary hyperhidrosis]]<ref name="pmid32726555">{{cite journal| author=Gorelick J, Friedman A| title=Diagnosis and Management of Primary Hyperhidrosis: Practical Guidance and Current Therapy Update. | journal=J Drugs Dermatol | year= 2020 | volume= 19 | issue= 7 | pages= 704-710 | pmid=32726555 | doi=10.36849/JDD.2020.5162 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32726555  }}</ref>
|
*Mean age: before 25
*Focal
*Family history of idiopathic hyperhidrosis
|
|-
| rowspan="2" |[[Lymphedema]]
| rowspan="2" |
*Mostly Lower limbs<ref name="pmid7707696">{{cite journal| author=Chabás A, Coll MJ, Aparicio M, Rodriguez Diaz E| title=Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. | journal=J Inherit Metab Dis | year= 1994 | volume= 17 | issue= 6 | pages= 724-31 | pmid=7707696 | doi=10.1007/BF00712015 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7707696  }}</ref>
*Mean age: 37 in males, 47 in females <ref name="pmid175738842">{{cite journal| author=Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G | display-authors=etal| title=Fabry disease and the skin: data from FOS, the Fabry outcome survey. | journal=Br J Dermatol | year= 2007 | volume= 157 | issue= 2 | pages= 331-7 | pmid=17573884 | doi=10.1111/j.1365-2133.2007.08002.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17573884  }}</ref>
|[[Chronic Venus insufficiency]]
|
*History taking


*
* Kidneys:
|
** [[Proteinuria]]/[[progressive renal failure]]: [[Diabetes mellitus]], [[arterial hypertension]], [[glomerulonephritis]], systemic [[Systemic lupus erythematosus|lupus]] erythematosus, [[hemolytic-uremic syndrome]], [[gout]], [[amyloidosis]], [[diabetes mellitus]], [[Henoch-Schonlein purpura]]
*Should Investigate accompanying symptoms
 
|-
<br />
|[[Rheumatic disorders]]
|
*History taking
|
*Should Investigate accompanying symptoms
|-
| rowspan="10" |[[Peripheral nervous system]]
| rowspan="10" |[[Pain]] ([[Neuropathic]])
| rowspan="10" |
*Severe neuropathic pain, Limb pain ( Acroparesthesia), Burning palms and soles
*Exacerbate by high temperature


*Mean age: 10 years old
* [[Central nervous system]]:
|[[Rheumatic disorders]]
** [[TIA]], [[apoplexy]], white matter lesions: [[Atherosclerosis]], [[multiple sclerosis]], [[mitochondriopathies]], [[CADASIL]]<ref name="pmid19623315">{{cite journal| author=Hoffmann B, Mayatepek E| title=Fabry disease-often seen, rarely diagnosed. | journal=Dtsch Arztebl Int | year= 2009 | volume= 106 | issue= 26 | pages= 440-7 | pmid=19623315 | doi=10.3238/arztebl.2009.0440 | pmc=2704393 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19623315 }}</ref>
|
*[[Rheumatic fever|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]], [[Left ventricular hypertrophy|LVH]], [[angiokeratomas]].)
|
|-
|[[Headache]] ([[Cluster headache|Cluster]])
|
*Attention to cluster diagnostic crateria
|
|-
|[[Migraine]]
|
*Should Investigate accompanying symptoms
|
*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
|
*Chronic progression
|
*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
|
*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
|
|-
|[[Porphyria]]
|
*The sequence of flares and remission periods in history is important.
|
|-
|[[Uremic neuropathy]]
|
*The elevated blood uremia level and renal insufficient findings.
|
|-
|[[Guillain-Barré syndrome|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==
==References==

Revision as of 11:33, 22 May 2022

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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

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








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.
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