Fabry's disease: Difference between revisions
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==[[Fabry's disease pathophysiology|Pathophysiology]]== | ==[[Fabry's disease pathophysiology|Pathophysiology]]== | ||
== | ==[[Fabry's disease epidemiology and demographics|Epidemiology and Demographics]]== | ||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 18:52, 22 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Synonyms and keywords: Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease
Overview
Historical Perspective
Classification
Pathophysiology
Epidemiology and Demographics
Diagnosis
Symptoms
- Lack of sweating (anhidrosis) or decreased sweating
- Fatigue
- Red spots on skin (angiokeratomas): tiny, painless papules that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin.
- Burning pain of the extremities. This pain can become very intense, especially when one has a fever.
- Loss of vision or blurry vision from corneal opacities.
- Difficulty swallowing (dysphagia)
- Abdominal pain
- Greasy stools (steatorrhea)
- Chest pain and palpitations
- Delayed puberty
- Pyrexia of unknown origin
- Cyanosis of extremities on exposure to cold (Raynaud's phenomenon)
- Hearing loss
- Loss of sensations in extremities
- Telangiectasis
- Lack of coordination of muscle movement (ataxia)
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
Laboratory Findings
- Blood tests
- Anemia
- Serum creatinine may be raised from chronic renal failure
- Serum urea may be elevated
- BUN may be raised
- Urinalysis:
ECG abnormalities
- AV node conduction block
- PR interval shortening
- Arrhythmias
Ultrasound
Treatment
- Until recently, treatment of Fabry's disease targeted the symptomatic effects. However, it is currently being treated at the cellular level through enzyme replacement therapy using Agalsidase alpha (Replagal) and Agalsidase beta (Fabrazyme®).
- The cost of these drugs is problematic (approximately $170,000 US a year/patient) and remains a barrier to many patients in some countries. Enzyme replacement therapy (typically infused every two weeks) may be performed in the patient's home by the patients themselves. Enzyme replacement therapy is not a cure, and must be infused recurrently for maximum benefit.
References
External links
- Fabry Support & Information Group
- Template:NINDS
- Fabry's disease at NLM Genetics Home Reference
- Fabry's Disease Association