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:
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
- Extreme mental and motor retardation
Vital Signs
- Irregularly irregular pulse may be present from cardiac arrhythmias
- Blood pressure may be raised
- Pyrexia of unknown origin
Skin
Head
- Neck retraction
Eyes
- Decreased visual acuity: Loss of vision or blurring of vision
- Corneal opacities
- Fundoscopy:
- Retinal pathology may be found
Ear
- Sensorineural hearing loss may be present
Heart
- Palpation:
- Auscultation:
- S3 may be heard
- Holosystolic murmur from mitral regurgitation
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