Fabry's disease: Difference between revisions

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==Diagnosis==
==Diagnosis==
===Physical Examination===
===Physical Examination===
====Appearance====
*Severe [[growth retardation]]
*Extreme mental and motor retardation


====Vital Signs====
*[[Irregularly irregular pulse]] may be present from [[cardiac arrhythmia]]s
*[[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]]
*[[Seizure]]s
*[[Spasticity]]
*[[Peripheral neuropathy]]
==== Other ====
*[[Fractures]] from [[Osteoporosis|osteoporotic bone]]
*[[Delayed puberty]]: lack of development of [[secondary sexual characteristics]]
*Male [[infertility]]
*[[Priapism]]


=== Laboratory Findings ===
=== Laboratory Findings ===

Revision as of 18:55, 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

Physical Examination

Laboratory Findings

ECG abnormalities

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


de:Morbus Fabry fi:Fabryn tauti

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