Inheriting Gaucher Disease

Gaucher disease is hereditary, which means that the genes for the disease are passed from one generation to the next. It can also affect several members of a family within a single generation. A person with one gene variant for Gaucher disease is considered a carrier. Carriers do not develop the disease, but can pass along the gene variant for the disease to their children.

When both parents are carriers there is:

- A 50% (1 in 2) chance of a child also being a carrier

- A 25% (1 in 4) chance with each pregnancy that a child will have Gaucher disease

- A 25% (1 in 4) chance a child will be unaffected

diagram showing Gaucher disease inhertiance in children when both parents are carriers

Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change, no matter how many children the parents have.

When one parent is a carrier there is:

- A 50% (1 in 2) chance a child will be a carrier

- A 50% (1 in 2) chance a child will be unaffected

diagram showing Gaucher disease inhertiance in children when one parent is a carrier

Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change, no matter how many children the parents have.

When one parent has Gaucher disease there is:

- A 100% chance a child will be a carrier

diagram showing Gaucher disease inhertiance in children when one parent has Gaucher disease

Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change, no matter how many children the parents have.

When one parent has Gaucher disease and one is a carrier there is:

- A 50% (1 in 2) chance a child will have Gaucher disease

- A 50% (1 in 2) chance a child will be a carrier

diagram showing Gaucher disease inhertiance in children when one parent has Gaucher disease and one is a carrier

Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change, no matter how many children the parents have.

While Gaucher disease is considered rare and affects ~1 in 40,000 in the general population, in patients with Ashkenazi Jewish descent it affects ~1 in 850.1,2

Additionally, in the Ashkenazi Jewish population, there is a mild variant of Gaucher disease that can cause significant skeletal complications despite the absence of typical disease symptoms.3

Family Testing

Gaucher disease Type 1 is hereditary. If you have received a diagnosis, you and your family should talk to a doctor or genetic counselor because your family members may also have the disease even if they do not exhibit symptoms.

Family members may also be carriers of Gaucher disease, meaning they could pass the disease on to their children. Testing is the only way to determine whether family members have Gaucher disease.

Get tested. It’s just a simple blood test

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Child receiving a blood test
Woman suffering from disease symptoms

Know the signs and symptoms

Identify Gaucher disease

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Lab technician with a petri dish and pipette

If you suspect Gaucher, get tested

Talk to your doctor -it’s a simple blood test

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Doctor speaking to a patient

Gaucher disease can be managed5,6

Treatment options include oral therapies.5,6

Gaucher disease can be managed4,6

Treatment options include oral therapies.4,6

Gaucher disease can be managed1,2

Treatment options include oral therapies.1,2

Gaucher disease can be managed4,5

Treatment options include oral therapies.4,5

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References:

1. Weinreb NJ. Pathophysiology, clinical features, and natural history of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:3-6

2. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335

3. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.

4. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci.2017;18(2):ii, E441.

5. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol.2011;86(1):110-115