Fabry's disease differential diagnosis: Difference between revisions
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*[[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> | *[[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]] | ||
===[[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]] | ||
===[[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]] | ||
===[[Eyes]]=== | ===[[Eyes]]=== | ||
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*[[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]] | ||
===[[Ears]]=== | ===[[Ears]]=== | ||
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*[[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]] | ||
===[[Heart]]=== | ===[[Heart]]=== | ||
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*[[Valvular heart disease|Valvular]] disorders: [[Endocarditis]], [[rheumatic disorders]], [[mucopolysaccharidoses]] | *[[Valvular heart disease|Valvular]] disorders: [[Endocarditis]], [[rheumatic disorders]], [[mucopolysaccharidoses]] | ||
*Impaired variability of cardiac frequency<span> </span>:[[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]] | ||
===[[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]] | ||
===[[Central nervous system]]=== | ===[[Central nervous system]]=== | ||
Revision as of 20:36, 2 June 2022
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Fabry's disease Microchapters |
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Risk calculators and risk factors for Fabry's disease differential diagnosis |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] 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
- Abdominal pain, diarrhea, constipation: Gastritis, duodenal ulcer, celiac disease, gastrointestinal hemorrhage, Crohn’s disease, ulcerative colitis, diverticulitis, functional dyspepsia, irritable bowel syndrome, familial Mediterranean fever
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
Ears
- Acute/chronic hearing loss: Apoplexy, multiple sclerosis, leopard syndrome
- Tinnitus: Otosclerosis, borreliosis, sudden deafness, Meniere's disease, acoustic neurinoma
- Dizziness: Benign paroxysmal positional vertigo, Meniere's disease, vestibular neuritis, cerebellar/brain stem infarction
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
Kidneys
- Proteinuria/progressive renal failure: Diabetes mellitus, arterial hypertension, glomerulonephritis, systemic lupus erythematosus, hemolytic-uremic syndrome, gout, amyloidosis, diabetes mellitus, Henoch-Schonlein purpura
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.