Fabry's disease physical examination
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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
- 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
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[11]
Other
- Fractures from osteoporotic bone[12]
- Delayed puberty: lack of development of secondary sexual characteristics
- Male infertility
- Priapism[13]
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.
- ↑ 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.
- ↑ 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.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290698.
- ↑ 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.
- ↑ 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.