Understanding Gaucher Disease: Genetics & Reproductive Carrier Screening.

Condition: Gaucher Disease
Gene: GBA
Inheritance pattern: Autosomal recessive (AR)

Gaucher Disease is a complex genetic disorder affecting the breakdown of fatty chemicals. Explore this condition, understand its types, genetic implications, and options for informed reproductive planning.

What is Gaucher Disease?

Gaucher Disease, a common lysosomal storage disorder, arises due to insufficient enzymes that break down Glucocerebroside—a fatty chemical. Fat-laden Gaucher cells accumulate in organs like the spleen, liver, and bone marrow, leading to diverse symptoms among affected individuals.

Types of Gaucher Disease

Type 1: Non-neuronopathic Gaucher Disease
- Severity: Mild to Severe
- Onset: Childhood to Adulthood
- Common Symptoms: Enlarged spleen and liver, anemia, lung disease, bone pain, and more.
Type 2: Neuronopathic Gaucher Disease
- Severity: Fatal (death < 2 years)
- Onset: Infancy
- Summary: Involves severe brain stem abnormalities, leading to irreversible brain damage and often early death.
Type 3: Neuronopathic Gaucher Disease
- Severity: Moderate to Severe
- Onset: Early Childhood
- Summary: Progresses slowly, affecting the nervous system and causing symptoms similar to Type 1.

Being a Carrier of Gaucher Disease

Carriers have a genetic variation in one "GBA" gene, experiencing no symptoms themselves. If both partners are carriers, there's a 25% (1 in 4) chance of having an affected child. Genetics influence families, necessitating awareness and testing discussions among relatives.

Gaucher Disease Carrier Frequency

Ethnicity influences carrier rates. Mainly affecting Ashkenazi Jews, Gaucher Disease's carrier rate is 1 in 15 for this group. Across ethnicities, the rate is 1 in 158.

Reproductive Planning and Support

Pre-pregnancy, screening options include in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). During pregnancy, tests diagnose genetic status as early as the 11th week. Clinical examination confirms diagnosis after pregnancy.

Managing Gaucher Disease

Though there's no cure, management approaches exist:

Early intervention for infants' breathing difficulties.
Nutritious diets for growth-restricted children.
Dialysis or transplant for kidney failure.
Medication addressing high blood pressure and symptoms.

Prognosis and Choices

Prognosis varies. Type 1 Gaucher Disease's prognosis depends on severity and diagnosis timing. Type 2 and Perinatal lethal Gaucher Disease often have limited treatment options, while Type 3 involves a shortened lifespan.

Seek Professional Guidance

Carrier screening is an essential option for those who want to understand the chance of having a child with Gaucher Disease. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are carriers of GBA as well as more than 560 other genetic conditions. This information supports people to make informed decisions about their family planning and pregnancy care options. Eugene’s Genetic Counsellors support you before, during and after results and are available to help you make the best decision based on your values and needs.

Explore the latest reproductive carrier screening options fully supported by our genetic counsellors.

More information and resources:
Brain Foundation Australia - https://brainfoundation.org.au/disorders/gaucher-disease
Genetics Home Reference - https://ghr.nlm.nih.gov/condition/gaucher-disease#inheritance