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{{Fabry's disease}}
{{Fabry's disease}}


{{CMG}} {{Neepa Shah}} {{AE}}
{{CMG}} {{AE}} {{GhazalS}}


==Overview==
==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==


==Differentiating Fabry's disease from other disease==
===[[Skin]] manifestation===
*[[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]]
*[[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]]


* <br />Skin manifestation
===[[Peripheral nervous system]]===
** Angiokeratoma : [[Fucosidosis]]<ref name="pmid33266441" />,[[Sialidosis]] (Juvenile foem)<ref name="pmid22452439" />, [[Acral pseudolymphomatous]] angiokeratoma of childhood<ref name="pmid20465644" />
*[[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]]
** [[Hypohidrosis]]/[[Anhidrosis]] :[[Horner syndrome|Horner syndrome,]] [[Topiramate]] usage, [[Acetylcholine]] intoxication, [[Ectodermal dysplasia]]
** [[Hyperhidrosis]]: [[Primary hyperhidrosis]]<ref name="pmid32726555" />
** [[Lymphedema]]: [[Chronic Venus insufficiency]], [[Rheumatic disorders]]
* [[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]]


{| class="wikitable"
===[[Gastrointestinal]] symptoms===
|+
*[[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]]
!Organ
!Sing/Symptom
!Fabry's disease
!Possible differential diagnosis
!DDx Clues
!Further info
|-
| rowspan="10" |Skin
| rowspan="3" |[[Angiokeratoma]]<br />
| rowspan="3" |
*Mean age: 17 years old
*Locations: Mostly [[Hip (anatomy)|Hips]], [[Groin area|Groin]], [[Periumbilical]]
|[[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>
|
*Mean age: 2 years old, the older patients more likely to have in examination
*Location: Varies involve Hips, Groin, Abdomen, external genitalia


<br />
===[[Eyes]]===
|
*[[Cornea verticillate]]<span> </span>:Therapy with amiodarone, [[flecainide]], [[tamoxifen]]; [[fucosidosis]]
*The clinical appearance of the lesions may be indistinguishable.
*[[Tortuositas vasorum]]: [[Diabetes mellitus]], [[Hypertension|arterial hypertension]], [[nephrotic syndrome]], [[neurofibromatosis type 1]], [[fibromuscular dysplasia]], [[Rendu-Osler-Weber disease]], [[Velocardiofacial syndrome]]
*The light microscopic findings are indistinguishable.
*[[Uveitis]]: [[Rheumatic disorders]], [[tubulointerstitial nephritis and uveitis syndrome (TINU)]], [[Bechet's disease]], [[sarcoidosis]], [[Crohn’s disease]]
*Should Investigate accompanying symptoms
*[[Conjunctival aneurysms]]: [[Kawasaki syndrome|Kawasaki syndrome]], [[Diabetes mellitus]]
|-
|[[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


*
===[[Ears]]===
|
*Acute/chronic [[hearing loss]]: [[apoplexy]], [[multiple sclerosis]], [[leopard syndrome]]
*Should Investigate accompanying symptoms
*[[tinnitus]]: [[otosclerosis]], [[borreliosis]], [[sudden deafness]], [[Meniere's disease]], [[acoustic neurinoma]]
|-
*[[Dizziness]]: [[benign paroxysmal positional vertigo]], [[Meniere's disease]], [[vestibular neuritis]], [[cerebellar/brain stem infarction]]
|[[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
===[[Heart]]===
|[[Rheumatic disorders]]
*[[Angina pectoris]], [[myocardial infarction]]: [[Atherosclerosis]]
|
*[[Palpitations]]: [[atrial fibrillation]], [[Wolf-Parkinson-White syndrome]], [[hyperthyroidism]], [[drug induced palpitations]]
*[[Rheumatic fever|Rheumatic Fever]]
*[[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]]
**Pain is self-limited, duration one month
*[[Valvular heart disease|Valvular]] disorders: [[Endocarditis]], [[rheumatic disorders]], [[mucopolysaccharidoses]]
*[[Juvenile dermatomyositis]]
*Impaired variability of cardiac frequency<span> </span>:[[Arterial hypertension]], [[mitral valve prolapse]], [[diabetes mellitus]], [[Sjogren syndrome]], [[MELAS syndrome]], [[obstructive sleep apnea]]
**[[Heliotrope rash]]
 
**Elevated serum muscle enzymes
===[[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]]
|-
 
|[[Fibromyalgia]]
===[[Central nervous system]]===
|
*[[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>
*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==
{{Reflist|2}}
{{Reflist|2}}


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Latest revision as of 10:27, 14 July 2022

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

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

Skin manifestation

Peripheral nervous system

Gastrointestinal symptoms

Eyes

Ears

Heart

Kidneys

Central nervous system

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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