Fabry's disease differential diagnosis: Difference between revisions
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==Differentiating Fabry's disease from other diseases== | ==Differentiating Fabry's disease from other diseases== | ||
*Skin manifestation | *[[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> | **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]] | ||
| Line 23: | Line 23: | ||
<br /> | <br /> | ||
* [[Gastrointestinal]] symptoms | *[[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]] | **[[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]] | ||
<br /> | <br /> | ||
* Eyes | *[[Eyes]] | ||
** [[Cornea verticillate]] :Therapy with amiodarone, [[flecainide]], [[tamoxifen]]; [[fucosidosis]] | **[[Cornea verticillate]]<span> </span>:Therapy with amiodarone, [[flecainide]], [[tamoxifen]]; [[fucosidosis]] | ||
** [[Tortuositas vasorum]]: [[Diabetes mellitus]], [[Hypertension|arterial hypertension]], [[nephrotic syndrome]], [[neurofibromatosis type 1]], [[fibromuscular dysplasia]], [[Rendu-Osler-Weber disease]], [[Velocardiofacial syndrome]] | **[[Tortuositas vasorum]]: [[Diabetes mellitus]], [[Hypertension|arterial hypertension]], [[nephrotic syndrome]], [[neurofibromatosis type 1]], [[fibromuscular dysplasia]], [[Rendu-Osler-Weber disease]], [[Velocardiofacial syndrome]] | ||
** [[Uveitis]]: [[Rheumatic disorders]], [[tubulointerstitial nephritis and uveitis syndrome (TINU)]], [[Bechet's disease]], [[sarcoidosis]], [[Crohn’s disease]] | **[[Uveitis]]: [[Rheumatic disorders]], [[tubulointerstitial nephritis and uveitis syndrome (TINU)]], [[Bechet's disease]], [[sarcoidosis]], [[Crohn’s disease]] | ||
** [[Conjunctival aneurysms]]: [[Kawasaki syndrome|Kawasaki syndrom]], [[Diabetes mellitus]] | **[[Conjunctival aneurysms]]: [[Kawasaki syndrome|Kawasaki syndrom]], [[Diabetes mellitus]] | ||
<br /> | <br /> | ||
* Ears | *[[Ears]] | ||
** Acute/chronic [[hearing loss]]: [[Apoplexy]], [[multiple sclerosis]], [[leopard syndrome]] | **Acute/chronic [[hearing loss]]: [[Apoplexy]], [[multiple sclerosis]], [[leopard syndrome]] | ||
** [[Tinnitus]]: [[Otosclerosis]], [[borreliosis]], [[sudden deafness]], [[Meniere's disease]], [[acoustic neurinoma]] | **[[Tinnitus]]: [[Otosclerosis]], [[borreliosis]], [[sudden deafness]], [[Meniere's disease]], [[acoustic neurinoma]] | ||
** [[Dizziness]]: [[Benign paroxysmal positional vertigo]], [[Meniere's disease]], [[vestibular neuritis]], [[cerebellar/brain stem infarction]] | **[[Dizziness]]: [[Benign paroxysmal positional vertigo]], [[Meniere's disease]], [[vestibular neuritis]], [[cerebellar/brain stem infarction]] | ||
<br /> | <br /> | ||
* Heart | *[[Heart]] | ||
** [[Angina pectoris]], [[myocardial infarction]]: [[Atherosclerosis]] | **[[Angina pectoris]], [[myocardial infarction]]: [[Atherosclerosis]] | ||
** [[Palpitations]]: [[Atrial fibrillation]], [[Wolf-Parkinson-White syndrome]], [[hyperthyroidism]], [[drug induced palpitations]] | **[[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]] | **[[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]] | **[[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]] | **Impaired variability of cardiac frequency<span> </span>:[[Arterial hypertension]], [[mitral valve prolapse]], [[diabetes mellitus]], [[Sjogren syndrome]], [[MELAS syndrome]], [[obstructive sleep apnea]] | ||
<br /> | <br /> | ||
* Kidneys | *[[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]] | **[[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]] | ||
<br /> | <br /> | ||
* [[Central nervous system]] | *[[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> | **[[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> | ||
==References== | ==References== | ||
Revision as of 11:34, 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
- Skin manifestation
- Angiokeratoma: Fucosidosis[1],Sialidosis (Juvenile form)[2], Acral pseudolymphomatous angiokeratoma of childhood[3]
- Hypohidrosis/Anhidrosis :Horner syndrome, Topiramate usage, Acetylcholine intoxication, Ectodermal dysplasia
- Hyperhidrosis: Primary hyperhidrosis[4]
- Lymphedema: Chronic Venus insufficiency, Rheumatic disorders
- Peripheral nervous system
- Pain (Neuropathic): Rheumatic disorders, Fibromyalgia, Headache (Cluster), Migraine, Diabetic neuropathy, Recurrent fever syndromes, Porphyria, Uremic neuropathy , Guillain-Barre' syndrome, Hereditary neuropathy
- Gastrointestinal symptoms
- Eyes
- Cornea verticillate :Therapy with amiodarone, flecainide, tamoxifen; fucosidosis
- Tortuositas vasorum: Diabetes mellitus, arterial hypertension, nephrotic syndrome, neurofibromatosis type 1, fibromuscular dysplasia, Rendu-Osler-Weber disease, Velocardiofacial syndrome
- Uveitis: Rheumatic disorders, tubulointerstitial nephritis and uveitis syndrome (TINU), Bechet's disease, sarcoidosis, Crohn’s disease
- Conjunctival aneurysms: Kawasaki syndrom, Diabetes mellitus
- Heart
- Angina pectoris, myocardial infarction: Atherosclerosis
- Palpitations: Atrial fibrillation, Wolf-Parkinson-White syndrome, hyperthyroidism, drug induced palpitations
- Cardiomyopathy: Mitochondriopathies, Long QT syndrome, myocarditis, Pompe disease, Niemann-Pick disease, hemochromatosis, Duchenne/Becker muscular dystrophy, neurofibromatosis type 1, systemic Lupus erythematosus, rheumatoid arthritis, dermatomyositis
- 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
- Central nervous system
- TIA, apoplexy, white matter lesions: Atherosclerosis, multiple sclerosis, mitochondriopathies, CADASIL[5]
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.
- ↑ 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). - ↑ 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.