What Is Type 1 Gaucher’s Disease?

Type 1 Gaucher's Disease Causes and Risk Factors

Type 1 Gaucher’s disease (pronounced “go-SHAYZ”) is a very rare inherited metabolic disease that affects the build up of fatty materials (also called “lipids”) in many parts of the body, including your liver, lungs, spleen, and bone marrow. If too many lipids accumulate in your body, this can lead to:

  • more frequent and easy bruising
  • bone pain/fractures
  • fewer healthy blood cells to carry oxygen throughout the body and fight off germs and bacteria

Even though this disease is a rare condition among the general population, you’re not alone. Gaucher’s disease is the most common type of genetic disease affecting Jewish people of Eastern, Central, and Northern European descent, often referred to as “Ashkenazi Jews.” Here, we’ll explain how Type 1 Gaucher’s disease affects your body and how genetics plays the major role in developing the disease.

Type 1 Gaucher’s Disease: How It Works
Gaucher’s disease is a metabolic disorder classified as a “lipid storage disease,” which is a category of diseases where certain fatty materials accumulate to extreme amounts throughout the body. They can include:

  • cholesterol
  • fatty acids
  • oils
  • waxes
  • steroids

The disease is caused by a deficiency of the enzyme glucocerebrosidase, which is found in our tissue and is needed in order for your body to process and break down glucocerebroside, a fatty substance used in making blood cells.

This enzyme deficiency is, in turn, caused by a genetic mutation that comes from both of your parents. Gaucher’s disease is also called “autosomal recessive,” meaning that the genetic mutation causing the disease is passed down through the generations in an inheritance pattern.

Type 1 Gaucher’s is the most common, accounting for about 90% of reported cases. Type 1 is also the mildest form of the disease in terms of symptoms.

Factoring in Genetics in Type 1 Gaucher’s Disease
About 1 in every 10 Jewish people whose families come from countries such as Poland, Ukraine, and Lithuania are carriers of the genetic mutation responsible for type 1 Gaucher’s disease. It’s important to know that both of your parents must carry the genetic mutation in order for you to develop the condition.

Having said that, just because your parents are, in fact, carriers doesn’t guarantee you’ll have Gaucher’s disease. According to the latest research, here are some statistics for you to keep in mind.

If both of your parents are carriers:

  • There is a 50% chance you may carry the gene, but not have the disease1
  • There is a 25% chance you may not be a carrier and not have the disease1
  • There is a 25% chance you may develop the disease1

To find out whether you’re a carrier of the genetic mutation that can cause Gaucher’s disease, the process is easy; your doctor just has to perform a simple blood or saliva screening. Also, if you have any known family incidence of Gaucher’s disease, or any other genetic defects, it’s important to let your doctor know so he/she can discuss with you all the available treatment options, which you can read more about in our type 1 Gaucher’s disease treatments article.

Updated on: 12/18/12
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Common Type 1 Gaucher's Disease Symptoms