Fabry's disease physical examination: Difference between revisions

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__NOTOC__
{{Fabry's disease}}
{{Fabry's disease}}
 
{{CMG}} {{AE}} {{GhazalS}}
{{CMG}}


==Overview==
==Overview==
The presence of [[angiokeratomas]] on [[physical examination]] is highly suggestive of [[Fabry's disease]]. other physical examinations can be varied due to organ involvement. 


==Physical Examination==
==Physical Examination==


===Appearance===
===Appearance===
*Severe [[growth retardation]]
 
*Extreme mental and motor 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<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
 
*[[Blood pressure]] may be raised
*[[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<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===
*[[Angiokeratomas]]
*[[Angiokeratomas]]
*[[Hypohidrosis]]
*[[Hypohidrosis]]
*[[Rash]]
*[[Rash]]
*[[Telangiectasias]]
*[[Telangiectasias]]<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>


===Head===
===Eyes===
*Neck retraction


=== Eyes ===
*Decreased [[visual acuity]]: [[Loss of vision]] or [[blurring of vision]]
*Decreased [[visual acuity]]: [[Loss of vision]] or [[blurring of vision]]
*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 ===
*Palpation:
*Palpation:
**Precordial [[heave]]
**Precordial [[heave]]
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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 ===
*[[Hepatomegaly]]
*[[Hepatomegaly]]
*[[Splenomegaly]]
*[[Splenomegaly]]<ref name="pmid20955964">{{cite journal| author=vom Dahl S, Mengel E| title=Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. | journal=Best Pract Res Clin Gastroenterol | year= 2010 | volume= 24 | issue= 5 | pages= 619-28 | pmid=20955964 | doi=10.1016/j.bpg.2010.09.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20955964  }}</ref>


=== Extremities ===
===Extremities===
*[[Raynaud phenomenon]]
 
*[[Raynaud phenomenon]]<ref name="pmid25997047">{{cite journal| author=Deshayes S, Auboire L, Jaussaud R, Lidove O, Parienti JJ, Triclin N | display-authors=etal| title=Prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in Fabry disease: a cross-sectional study. | journal=Medicine (Baltimore) | year= 2015 | volume= 94 | issue= 20 | pages= e780 | pmid=25997047 | doi=10.1097/MD.0000000000000780 | pmc=4602884 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25997047  }}</ref>
 
===Neurologic===


=== Neurologic ===
*[[Mental retardation]]
*[[Mental retardation]]
*[[Growth retardation]]
*[[Growth retardation]]
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*[[Seizure]]s
*[[Seizure]]s
*[[Spasticity]]
*[[Spasticity]]
*[[Peripheral neuropathy]]
*[[Peripheral neuropathy]]<ref name="pmid21290698">{{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=21290698 | doi= | pmc= | url= }}</ref>


=== Other ===
===Other===
*[[Fractures]] from [[Osteoporosis|osteoporotic bone]]
 
*[[Fractures]] from [[Osteoporosis|osteoporotic bone]]<ref name="pmid20001766">{{cite journal| author=Sacre K, Lidove O, Giroux Leprieur B, Ouali N, Laganier J, Caillaud C | display-authors=etal| title=Bone and joint involvement in Fabry disease. | journal=Scand J Rheumatol | year= 2010 | volume= 39 | issue= 2 | pages= 171-4 | pmid=20001766 | doi=10.3109/03009740903270631 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20001766  }}</ref>
*[[Delayed puberty]]: lack of development of [[secondary sexual characteristics]]
*[[Delayed puberty]]: lack of development of [[secondary sexual characteristics]]
*Male [[infertility]]
*Male [[infertility]]
*[[Priapism]]
*[[Priapism]]<ref name="pmid29110178">{{cite journal| author=Meng XL, Arning E, Wight-Carter M, Day TS, Jabbarzadeh-Tabrizi S, Chen S | display-authors=etal| title=Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression. | journal=J Inherit Metab Dis | year= 2018 | volume= 41 | issue= 2 | pages= 231-238 | pmid=29110178 | doi=10.1007/s10545-017-0107-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29110178  }}</ref>
 
==References==
{{Reflist|2}}
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Latest revision as of 18:50, 14 July 2022

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]

Overview

The presence of angiokeratomas on physical examination is highly suggestive of Fabry's disease. other physical examinations can be varied due to organ involvement.

Physical Examination

Appearance

Vital Signs

Skin

Eyes

Ear

Heart

Abdomen

Extremities

Neurologic

Other

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
  4. ↑ Germain DP (2010). "Fabry disease". Orphanet J Rare Dis. 5: 30. doi:10.1186/1750-1172-5-30. PMC 3009617. PMID 21092187.
  5. ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290701.
  6. ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290696.
  7. ↑ 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.
  8. ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290675.
  9. ↑ vom Dahl S, Mengel E (2010). "Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly". Best Pract Res Clin Gastroenterol. 24 (5): 619–28. doi:10.1016/j.bpg.2010.09.001. PMID 20955964.
  10. ↑ Deshayes S, Auboire L, Jaussaud R, Lidove O, Parienti JJ, Triclin N; et al. (2015). "Prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in Fabry disease: a cross-sectional study". Medicine (Baltimore). 94 (20): e780. doi:10.1097/MD.0000000000000780. PMC 4602884. PMID 25997047.
  11. ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290698.
  12. ↑ Sacre K, Lidove O, Giroux Leprieur B, Ouali N, Laganier J, Caillaud C; et al. (2010). "Bone and joint involvement in Fabry disease". Scand J Rheumatol. 39 (2): 171–4. doi:10.3109/03009740903270631. PMID 20001766.
  13. ↑ Meng XL, Arning E, Wight-Carter M, Day TS, Jabbarzadeh-Tabrizi S, Chen S; et al. (2018). "Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression". J Inherit Metab Dis. 41 (2): 231–238. doi:10.1007/s10545-017-0107-6. PMID 29110178.
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