Fabry's disease differential diagnosis
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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
- 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 syndrome, 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.