What is Gaucher Disease?

Gaucher disorder is an inherited disorder that results from a deficit of an enzyme responsible for breaking down a fatty acid substance within the organelles of cells, called lysosomes. Low levels of an enzyme (glucocerebrosidase) allow fat-laden Gaucher cells to build up in tissues like the spleen, liver, and bone marrow, resulting in inflammation, immune dysfunction and progressive organ involvement. 

How to diagnose?
A simple blood test showing a low level of enzyme activity followed by DNA sequencing will help physicians diagnose the disorder.

What is the treatment?
Enzyme replacement and substrate reduction therapies are the most common treatments. More treatment options are in the pipeline, including gene therapy. Appropriate care and adjunct therapies will lead to the alleviation of symptoms and improvement of quality of life.

Gaucher Disease

Type 1

The most common form of the disorder is more prevalent in individuals of Ashkenazi Jewish origin. It does not primarily affect the brain. This type has a broad spectrum of severity and presentations. Some individuals may remain symptom free or develop only mild symptoms.

Symptoms include: Spleen and liver enlargement, bone problems, fatigue, swollen stomach, easy bruising, tiredness, bone pain, easily broken bones, and nosebleeds.

Type 2 

The most common form of the disorder is more prevalent in individuals of Ashkenazi Jewish origin. It does not primarily affect the brain. This type has a broad spectrum of severity and presentations. Some individuals may remain symptom free or develop only mild symptoms.

Symptoms include: Spleen and liver enlargement, bone problems, fatigue, swollen stomach, easy bruising, tiredness, bone pain, easily broken bones, and nosebleeds.

Type 3

The most common form of the disorder is more prevalent in individuals of Ashkenazi Jewish origin. It does not primarily affect the brain. This type has a broad spectrum of severity and presentations. Some individuals may remain symptom free or develop only mild symptoms.

Symptoms include: Spleen and liver enlargement, bone problems, fatigue, swollen stomach, easy bruising, tiredness, bone pain, easily broken bones, and nosebleeds.

      Gaucher Disease (Type I, II,II)    Read More

30% of Rare Disorders

Symptoms:

Listlessness

Weightloss

Bone problems

Liver and spleen issues

*See details for each type