GAUCHER DISEASE

The cover of 'Rare Disease Series #16 Gaucher disease'

About GAUCHER DISEASE

Chromosome 1 and the location of Gaucher disease related GBA gene
GAUCHER DISEASE is one of the most well known rare genetic metabolic disorder. it is also part of the disease group called lysosomal storage disorder(LSD).

There are Gaucher disease type 1, type 2, type 3, and two other forms called perinatal-lethal form and cardiovascular form.

The disease is derived from the mutation in the GBA gene, causing deficiency of lysosomal beta-glucosidase. It eventually causes the accumulation of fatty substances in our body’s major organs, including the bone marrow, spleen, and liver.

PREVALENCE / ONSET

Map background with silhouette of a baby to an adult, and words saying "Gaucher disease is known to affect approximately 1 in 50,000 to 100,000 globally."
Prevalence
Gaucher disease is known to affect approximately 1 in 50,000 to 100,000 globally. It is also known to affect Ashkenazic Jewish ancestry more frequently, as high as 1 in 450 births.

Onset
The symptoms of Gaucher disease can appear at any age, but it varies on the types of the disease.

SYMPTOMS

Six symptoms of Gaucher disease: Swollen belly due to spleen and liver enlargement, Bone pain, Easily fractured bones, Anemia and fatigue, Bleeding and bruising problems, Neurological impairment

DIAGNOSIS

The diagnosis of Gaucher disease is based on finding its unique characteristics from clinical evaluation and other tests, including enzyme assay and genetic tests.

The specific type of enzyme assay is called BGL(beta-glucosidase leukocyte) test. It measures beta-glucosidase activity in white blood cells or skin cells.
Genetic testing to confirm the mutations in the GBA gene is also frequently used.

INHERITANCE PATTERN

A family tree showing autosomal recessive inheritance pattern of Gaucher disease.
Gaucher disease has been found to inherit in an autosomal recessive pattern.

TREATMENTS

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  2. Since there is no exact cure for Gaucher disease, treatments focus on improving the patients’ quality of life by giving control over their symptoms. Treatment differs from the types of Gaucher disease and from each patient.

    Enzyme Replacement Therapy(ERT)
    The therapy is given every 2 weeks via intravenous infusions and balances glucosidase enzyme level. It has been proven effective in improving platelet counts and reducing the size of enlarged spleen and liver, especially in Gaucher disease type 1.

    Substrate Reduction Therapy(SRT)
    Unlike ERT, SRT is an oral medication. SRT reduces the amount of glucocerebroside produced in the body. For its unique mechanism, it is only applicable to specific patients.