Gaucher disease is a rare genetic condition that causes the buildup of a fatty chemical in your organs. Symptoms of the most common subtype might not appear until adulthood if they appear at all.
Gaucher disease (pronounced go-SHAY) is caused by a mutation in the gene
According to the National Gaucher Foundation, it affects about 1 in 40,000 newborns.
GBA codes for an enzyme called glucocerebrosidase that breaks down a fatty chemical called glucocerebroside. People with Gaucher disease don’t produce enough of this enzyme and have a buildup of glucocerebroside in organs such as their:
- liver
- spleen
- bone marrow
Read on to learn more about how common Gaucher disease is and who’s at the highest risk of developing it.
The definition of a rare disease varies slightly between countries. In the United States, a disease is considered rare if it affects fewer than 200,000 people in the country, or approximately 1 in 1,660 people. The European Union considers a disease rare if it affects fewer than 1 in 2,000 people.
Gaucher disease is rare based on both definitions. Estimates vary between studies, but it’s reported to affect anywhere from 1 in 17,241 to 1 in 256,410 newborns.
Gaucher disease can be broken into three main subtypes:
- Type 1: Type 1 Gaucher disease is most common. It makes up about 94% of cases, and symptoms can develop at any age.
- Type 2: Type 2 causes serious problems from infancy that affect the central nervous system such as trouble controlling voluntary movement. It usually causes death by
age 2 . - Type 3: Type 3 also causes problems with the central nervous system but tends to progress slower than type 2. It may begin within the first 2 years of life, but many people survive into their
20s or 30s .
Potential symptoms of Gaucher disease include:
| Type 1 | Type 2 | Type 3 |
|---|---|---|
| loss of bone mass (osteopenia) | problems with speaking, swallowing, or controlling the jaw | seizures |
| enlarged spleen and enlarged liver | enlarged spleen and enlarged liver | enlarged spleen and enlarged liver |
| low blood cell counts | low blood cell counts | oculomotor apraxia |
| lung disease | lung disease | lung disease |
| muscle spasticity, weakness, trouble controlling voluntary movements | progressive myoclonic epilepsy | |
| skin problems |
Estimates on the frequency of Gaucher disease have varied between studies. Previous studies have reported the following frequencies per number of live births:
- 1 in 17,241 in an Austrian study
- 1 in 43,479 in the United States (Missouri)
1 in 57,000 people in an Australian study1 in 86,207 in a Dutch study1 in 88,496 in a Czech study1 in 100,000 in a Spanish study- 1 in 250,000 in a Moroccan study
- 1 in 256,410 in a Canadian study
- 1 in 333,333 in a Japanese study
Type 2 and 3 Gaucher disease are estimated to occur in 1 in 100,000–300,000 live births.
Gaucher disease is most common in people of Ashkenazi Jewish descent, a group of Jewish people who traditionally lived in Eastern and Central Europe.
About
Gaucher disease is caused by a mutation in the GBA gene. It’s a recessive inherited condition, meaning that you need to receive a mutated gene from both parents to develop the disease.
If both parents are carriers, there is a:
- 1 in 4 chance the baby will have Gaucher disease
- 1 in 2 chance they’ll be a carrier
- 1 in 4 chance that they won’t be a carrier or have the disease
If you have characteristic symptoms of Gaucher disease or a family history, your doctor may recommend getting a blood test to confirm the diagnosis. Doctors can run two types of tests for Gaucher disease with a sample of your blood:
- Enzyme test: According to the Gaucher Disease Foundation, the results of an enzyme test almost always show if you have Gaucher disease. This test measures the activity of the enzyme glucocerebrosidase coded for by the gene GBA.
- Genetic test: Doctors can use a sample of your blood or saliva to test whether you have a mutation in your GBA gene associated with Gaucher disease.
Treatments for Gaucher disease
Gaucher disease doesn’t have a cure, but symptoms and damage to your body can be reduced with two types of treatment:
- Enzyme replacement therapy: Enzyme replacement therapy involves replacing the missing enzyme in your body about every 2 weeks through an IV so that your body can break down the fatty chemical glucocerebroside in your organs and bone marrow.
- Substrate reduction therapy: Substrate reduction therapy involves reducing the amount of glucocerebroside produced by the body. It’s administered as an oral medication.
Gaucher disease is a rare condition that leads to a buildup of a fatty substance called glucocerebroside in your body. Type 1 is the most common subtype of Gaucher disease. It’s thought to occur in about 1 in 40,000 newborns, but estimates on its incidence vary between studies.
Type 2 and 3 Gaucher disease are much rarer and usually develop in infancy or early in childhood. They tend to cause more severe symptoms that affect the brain and spinal cord and may lead to premature death.