Gaucher disease refers to a collection of rare inherited metabolic disorders characterised by the buildup of harmful levels of lipid in various body cells and tissues.1 Gaucher disease results from mutations to the GBA gene.2,3

There are several types of the condition, which are classed according to their specific characteristics and severity:1,2,3

Gaucher Disease

Signs and Symptoms4

The symptoms typically vary between individuals.4 However, the most common symptoms include:4

Enlarged spleen and liver

Anaemia

Haemophilia

Easy bruising

Fatigue

Bone pain

Respiratory problems

Onset of Symptoms1

The typical ages for symptoms of the disease to appear

Potential Complications1

Dried Blood Spot (DBS)

Dried Blood Spot (DBS)

    1. Genetic and Rare Diseases Information Center. Gaucher disease. Available at https://rarediseases.info.nih.gov/diseases/8233/gaucher-disease. Accessed on 12 September 2022.
    2. National Library of Medicine. Gaucher disease. Available at https://medlineplus.gov/genetics/condition/gaucher-disease/. Accessed on 12 September 2022.
    3. National Organization for Rare Disorders. Gaucher disease. Available at https://rarediseases.org/rare-diseases/gaucher-disease/#causes. Accessed on 12 September 2022.
    4. National Gaucher Foundation. Gaucher Disease Symptoms. Available at https://www.gaucherdisease.org/about-gaucher-disease/symptoms/. Accessed on 12 September 2022.

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MAT-MY-2201068 11/2022