Fabry's disease physical examination: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Fabry's disease}}
{{Fabry's disease}}
{{CMG}} {{AE}}
{{CMG}} {{AE}} {{GhazalS}}


==Overview==
==Overview==
Line 75: Line 75:
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Needs english review]]
[[Category:Up to Date]]

Latest revision as of 18:50, 14 July 2022

Fabry's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fabry's disease physical examination On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fabry's disease physical examination

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fabry's disease physical examination

CDC on Fabry's disease physical examination

Fabry's disease physical examination in the news

Blogs on Fabry's disease physical examination

Directions to Hospitals Treating Fabry's disease

Risk calculators and risk factors for Fabry's disease physical examination

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.