Fabry's disease physical examination: Difference between revisions
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===Appearance=== | ===Appearance=== | ||
*Severe [[growth retardation]] | *Severe [[growth retardation]]<ref name="pmid25232851">{{cite journal| author=Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP | display-authors=etal| title=Fabry disease in infancy and early childhood: a systematic literature review. | journal=Genet Med | year= 2015 | volume= 17 | issue= 5 | pages= 323-30 | pmid=25232851 | doi=10.1038/gim.2014.120 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25232851 }}</ref> | ||
*Extreme mental and motor retardation | *Extreme mental and motor retardation<ref name="pmid25319043">{{cite journal| author=Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO| title=Cognitive and psychological functioning in Fabry disease. | journal=Arch Clin Neuropsychol | year= 2014 | volume= 29 | issue= 7 | pages= 642-50 | pmid=25319043 | doi=10.1093/arclin/acu047 | pmc=4263929 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25319043 }}</ref> | ||
===Vital Signs=== | ===Vital Signs=== | ||
*[[Irregularly irregular pulse]] may be present from [[cardiac arrhythmia]]s | *[[Irregularly irregular pulse]] may be present from [[cardiac arrhythmia]]s<ref name="pmid21092187">{{cite journal| author=Germain DP| title=Fabry disease. | journal=Orphanet J Rare Dis | year= 2010 | volume= 5 | issue= | pages= 30 | pmid=21092187 | doi=10.1186/1750-1172-5-30 | pmc=3009617 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21092187 }}</ref> | ||
*[[Blood pressure]] may be raised | *[[Blood pressure]] may be raised<ref name="pmid210921872">{{cite journal| author=Germain DP| title=Fabry disease. | journal=Orphanet J Rare Dis | year= 2010 | volume= 5 | issue= | pages= 30 | pmid=21092187 | doi=10.1186/1750-1172-5-30 | pmc=3009617 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21092187 }}</ref> | ||
*[[Pyrexia of unknown origin]] | *[[Pyrexia of unknown origin]] | ||
===Skin=== | ===Skin<ref name="pmid21290701">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290701 | doi= | pmc= | url= }}</ref>=== | ||
*[[Angiokeratomas]] | *[[Angiokeratomas]] | ||
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*[[Rash]] | *[[Rash]] | ||
*[[Telangiectasias]] | *[[Telangiectasias]] | ||
===Eyes=== | ===Eyes=== | ||
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*Corneal opacities | *Corneal opacities | ||
*[[Fundoscopy]]: | *[[Fundoscopy]]: | ||
**Retinal pathology may be found | **Retinal pathology may be found<ref name="pmid21290696">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290696 | doi= | pmc= | url= }}</ref> | ||
===Ear=== | ===Ear=== | ||
*[[Sensorineural hearing loss]] may be present | *[[Sensorineural hearing loss]] may be present<ref name="pmid31072727">{{cite journal| author=Eyermann C, Raguin T, Rohmer D, Noel E, Charpiot A| title=Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation. | journal=Eur Ann Otorhinolaryngol Head Neck Dis | year= 2019 | volume= 136 | issue= 4 | pages= 273-279 | pmid=31072727 | doi=10.1016/j.anorl.2019.04.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31072727 }}</ref> | ||
===Heart=== | ===Heart=== | ||
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*Auscultation: | *Auscultation: | ||
**[[S3]] may be heard | **[[S3]] may be heard | ||
**[[Holosystolic murmur]] from [[mitral regurgitation]] | **[[Holosystolic murmur]] from [[mitral regurgitation]]<ref name="pmid21290675">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290675 | doi= | pmc= | url= }}</ref> | ||
===Abdomen=== | ===Abdomen=== | ||
Revision as of 13:52, 22 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
The presence of angiokeratomas on physical examination is highly suggestive of Fabry's disease. other physical examinations an be vary due to the organ involvement.
Physical Examination
Appearance
- Severe growth retardation[1]
- Extreme mental and motor retardation[2]
Vital Signs
- Irregularly irregular pulse may be present from cardiac arrhythmias[3]
- Blood pressure may be raised[4]
- Pyrexia of unknown origin
Skin[5]
Eyes
- Decreased visual acuity: Loss of vision or blurring of vision
- Corneal opacities
- Fundoscopy:
- Retinal pathology may be found[6]
Ear
- Sensorineural hearing loss may be present[7]
Heart
- Palpation:
- Auscultation:
- S3 may be heard
- Holosystolic murmur from mitral regurgitation[8]
Abdomen
Extremities
Neurologic
- Mental retardation
- Growth retardation
- Gradual loss of intellect
- Motor retardation
- Ataxia
- Seizures
- Spasticity
- Peripheral neuropathy
Other
- Fractures from osteoporotic bone
- Delayed puberty: lack of development of secondary sexual characteristics
- Male infertility
- Priapism
References
- ↑ Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP; et al. (2015). "Fabry disease in infancy and early childhood: a systematic literature review". Genet Med. 17 (5): 323–30. doi:10.1038/gim.2014.120. PMID 25232851.
- ↑ Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO (2014). "Cognitive and psychological functioning in Fabry disease". Arch Clin Neuropsychol. 29 (7): 642–50. doi:10.1093/arclin/acu047. PMC 4263929. PMID 25319043.
- ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
- ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290701.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290696.
- ↑ Eyermann C, Raguin T, Rohmer D, Noel E, Charpiot A (2019). "Cochleovestibular manifestations in Fabry disease: Importance of screening and systematic ENT evaluation". Eur Ann Otorhinolaryngol Head Neck Dis. 136 (4): 273–279. doi:10.1016/j.anorl.2019.04.014. PMID 31072727.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290675.