Fabry's disease differential diagnosis: Difference between revisions

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===[[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===
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===[[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]]


===[[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<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]]

Revision as of 20:41, 2 June 2022

Fabry's disease Microchapters

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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

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.