Fabry's disease physical examination: Difference between revisions
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==Overview== | ==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== | ==Physical Examination== | ||
===Appearance=== | ===Appearance=== | ||
*Severe [[growth retardation]] | *Severe [[growth retardation]] | ||
*Extreme mental and motor retardation | *Extreme mental and motor retardation | ||
===Vital Signs=== | ===Vital Signs=== | ||
*[[Irregularly irregular pulse]] may be present from [[cardiac arrhythmia]]s | *[[Irregularly irregular pulse]] may be present from [[cardiac arrhythmia]]s | ||
*[[Blood pressure]] may be raised | *[[Blood pressure]] may be raised | ||
Line 17: | Line 23: | ||
===Skin=== | ===Skin=== | ||
*[[Angiokeratomas]] | *[[Angiokeratomas]] | ||
*[[Hypohidrosis]] | *[[Hypohidrosis]] | ||
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===Head=== | ===Head=== | ||
*Neck retraction | *Neck retraction | ||
=== Eyes === | ===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 | ||
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**Retinal pathology may be found | **Retinal pathology may be found | ||
=== Ear === | ===Ear=== | ||
*[[Sensorineural hearing loss]] may be present | *[[Sensorineural hearing loss]] may be present | ||
=== Heart === | ===Heart=== | ||
*Palpation: | *Palpation: | ||
**Precordial [[heave]] | **Precordial [[heave]] | ||
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**[[Holosystolic murmur]] from [[mitral regurgitation]] | **[[Holosystolic murmur]] from [[mitral regurgitation]] | ||
=== Abdomen === | ===Abdomen=== | ||
*[[Hepatomegaly]] | *[[Hepatomegaly]] | ||
*[[Splenomegaly]] | *[[Splenomegaly]] | ||
=== Extremities === | ===Extremities=== | ||
*[[Raynaud phenomenon]] | *[[Raynaud phenomenon]] | ||
=== Neurologic === | ===Neurologic=== | ||
*[[Mental retardation]] | *[[Mental retardation]] | ||
*[[Growth retardation]] | *[[Growth retardation]] | ||
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*[[Peripheral neuropathy]] | *[[Peripheral neuropathy]] | ||
=== Other === | ===Other=== | ||
*[[Fractures]] from [[Osteoporosis|osteoporotic bone]] | *[[Fractures]] from [[Osteoporosis|osteoporotic bone]] | ||
*[[Delayed puberty]]: lack of development of [[secondary sexual characteristics]] | *[[Delayed puberty]]: lack of development of [[secondary sexual characteristics]] |
Revision as of 19:35, 15 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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