Fabry's disease physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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

• Angiokeratomas
• Hypohidrosis
• Rash
• Telangiectasias

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:
  • Precordial heave
  • Thrill
• Auscultation:
  • S3 may be heard
  • Holosystolic murmur from mitral regurgitation

Abdomen

• Hepatomegaly
• Splenomegaly

Extremities

• Raynaud phenomenon

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