Gaucher Disease

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The genetic disease, Gaucher's disease, causes a disorder of the lipid metabolism. Through this sphingolipidosis (lysosomal storage disease) there can be found a accumulation of sphingolipids in cells.

Phenotypic description of the disease

There exist three phenotypic expressions of the Gaucher's disease. Dependent of the severe of the disease, the disease shows different symptoms. Also, the age at which the first symptoms appear, is in connection with the degree of illness.

Classification of types:

non-neuropathic:

This type is the most common one. It can begin in any age but mostly in adulthood. This form is most commonly seen in people of Ashkenazi Jewish heritage. Symptoms, that may occur in type I:

• skeletal abnormalities, osteopenia (bone pain/fractures)
• hepatomegaly (enlarged liver)
• splenomegaly (enlarged spleen)
• ->anemia (decrease in healthy red blood cells)
• ->thrombocytopenia (greater susceptibility to bruising, which may mean you have a low number of blood platelets)
• pingueculae (yellow spots in your eyes)
• delayed puberty
• nosebleeds

acute infantile neuropathic:

The second disease form starts at the infant stage and has the severest degree of illness. Especially the symptom of brain damage shows a rapidly progress. Symptoms, that may occur in type II additionally to the symptoms of type I:

• symptoms of type I
• brain problems (mental retardation, dementia)
• Rigidity
• Seizures

chronic neuropathic:

The Type III of Gaucher’s disease begins in childhood or adolescence. The disease progress is slower than in type II. But liver and spleen symptoms even more intense.

• Symptoms of type I
• brain problems (mental retardation, dementia)