Gaucher's disease history and symptoms: Difference between revisions
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==Overview== | ==Overview== | ||
==History | ==History== | ||
==Symptoms== | |||
* Painless [[hepatomegaly]] and [[splenomegaly]]; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml. | * Painless [[hepatomegaly]] and [[splenomegaly]]; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml. | ||
* [[Hypersplenism]]: increased destruction of [[red blood cell|red]] and [[white blood cell]]s and [[platelet]]s, leading to [[anemia]], [[neutropenia]] and [[thrombocytopenia]] (with an increased risk of [[infection]] and [[bleeding]]) | * [[Hypersplenism]]: increased destruction of [[red blood cell|red]] and [[white blood cell]]s and [[platelet]]s, leading to [[anemia]], [[neutropenia]] and [[thrombocytopenia]] (with an increased risk of [[infection]] and [[bleeding]]) | ||
* [[Cirrhosis]] of the liver is rare | * [[Cirrhosis]] of the liver is rare | ||
* [[Neurology|Neurological]] symptoms occur only in some types of Gaucher's (see below): | * [[Neurology|Neurological]] symptoms occur only in some types of Gaucher's (see below): | ||
** Type II: serious convulsions, hypertonia, mental retardation, apnea. | ** Type II: serious convulsions, hypertonia, [[mental retardation]], [[apnea]]. | ||
** Type III: myoclonus, convulsions, dementia, ocular muscle apraxia. | ** Type III: [[myoclonus]], [[convulsions]], [[dementia]], ocular muscle [[apraxia]]. | ||
* [[Osteoporosis]]: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. | * [[Osteoporosis]]: 75% develop visible bony abnormalities due to the accumulated glucosylceramide. | ||
* Bone pain and | * Bone pain and [[fracture]]s | ||
* Cognitive impairment | * Cognitive impairment | ||
* Easy bruising | * [[Easy bruising]] | ||
* Fatigue | * [[Fatigue]] | ||
* Heart valve problems | * Heart valve problems | ||
* Lung disease | * Lung disease | ||
* Severe swelling ([[edema]]) at birth | |||
* Severe swelling (edema) at birth | |||
* Skin changes | * Skin changes | ||
Latest revision as of 05:54, 31 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
History
Symptoms
- Painless hepatomegaly and splenomegaly; the spleen can be 1500-3000 ml, as opposed to the normal size of 50-200 ml.
- Hypersplenism: increased destruction of red and white blood cells and platelets, leading to anemia, neutropenia and thrombocytopenia (with an increased risk of infection and bleeding)
- Cirrhosis of the liver is rare
- Neurological symptoms occur only in some types of Gaucher's (see below):
- Type II: serious convulsions, hypertonia, mental retardation, apnea.
- Type III: myoclonus, convulsions, dementia, ocular muscle apraxia.
- Osteoporosis: 75% develop visible bony abnormalities due to the accumulated glucosylceramide.
- Bone pain and fractures
- Cognitive impairment
- Easy bruising
- Fatigue
- Heart valve problems
- Lung disease
- Severe swelling (edema) at birth
- Skin changes