Gaucher Disease

What is it?

An autosomal recessive disorder genetic condition where the enzyme called glucocerebrosidase is deficient or one does not have the ability to make it or its not working as it should.

These enzymes in our body cells (the part of the body cell is called lysosome) to clean up and dispose of a fatty substance in the body called glucocerebroside that the body is otherwise unable to break down.
If our body cells has too much of this fatty substance, the cells are called ‘Gaucher cells’ and begin to build up take over normal body cells functions causing symptoms.
Gaucher disease is more common, such as in Ashkenazi Jews.

There are three major types of Gaucher disease that differ in symptoms and severity, however symptoms can overlap.

Type 1

The mildest form and the majority have this form
This condition does not cause any neurological symptoms

Type 2

Approximately 1% are affected and can cause severe symptoms including severe neurological symptoms
The person does not usually live beyond the age of 2 years old.

Type 3

Approximately 5% are affected and is a milder form of type 2.
A person can be expected to live up to 30 years old.

Cause

Problem with a GBA gene (which is responsible for this enzymes function)
Family history-autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting the condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected)

Source: www.stanfordchildrens.org

Symptoms

Type 1

Long term bone pain?
Sudden episodes of bone pain?
Bone fracture and weak bones?
Arthritis?
Osteoporosis?
Short of breath and/or breathing problems?
Dry cough longer than three weeks (leading to scarring of the lungs tissue)?
Pulmonary hypertension?
Blood disorders including anaemia?
Enlarged spleen?
Liver disease?

Type 2 and Type 3 (milder form of type 2)

Type 1 symptoms?
Vision problems including strabismus?
Neurological symptoms?
Aching, painful muscles, muscle cramps/spasms/stiffness?
Muscle disorder and weakness?
Dementia?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

Spleen infarction (death of one spleen) causing severe belly pain

This condition can lead to:

Depression
Gallstones
Poor growth and development
Heart complications i.e.
- Heart valve calcification
Kidney complications (rare)

This condition has been associated with:

This condition may show similar symptoms to:

Detailed Information

Please copy and paste any key words from the title: Gaucher Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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National Organisation of Rare Diseases
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Verywell Health
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Nathnac
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