What Do You Mean By Gaucher Disease? Causes And Treatments

Gaucher disease is a rare genetic disorder that is passed from parents to children. It occurs due to a deficiency of lysosomal enzymes and glucocerebrosidase. These enzymes are responsible for breaking down the fatty acid called Lapid.

In Gaucher disease, these enzymes are missing, which results in lipid storage in bone marrow, liver, and spleen. It can lead to various health issues like weakening the bones, enlarged organs, damage to brain cells, and even death.

Gaucher disease is incurable; still, three types of treatments can help to control the symptoms. So, go through this article to learn about its causes and the treatment required to diagnose Gaucher’s disease.

Symptoms And Causes Of Gaucher Disease

Before we delve into its symptoms and causes, you have to understand the Gaucer’s Disease types. Basically, there are three main types of Gaucher disease, and knowing about them will help you understand this disease in a better way.

Causes of Gaucher Disease

Gaucher Disease Type 1

Type 1 is the most common Gaucher disease, which can happen at any age throughout the individual’s life. In this case, the patient does not have enough palettes in the blood, which may cause various health issues. The person may experience severe bruising, pain in bones, stomachache, and fatigue. 

Gaucher disease type 1 can show the symptoms of an enlarged liver and spleen, which can affect the kidney, lungs, or bone problems. The good thing about the type 1 phase is it does not affect the brain and spinal cord and have very mild symptom.

Gaucher Disease Type 2

Next is type 2, which is one of the rare Gaucher diseases on the list. It usually occurs in babies younger than 3 to 6 months old, which is fetal. This means that babies with such conditions usually pass away within 2 to 3 years. This type of Gaucher disease can cause enlarged organs like the liver, and spleen, and severe brain damage, which may create problems in the body moments.

Unfortunately, no treatment options are available for type 2 Gaucher disease. Healthcare professionals are still trying to find a way to treat it well.

Gaucher Disease Type 3

Gaucher disease type 3 is among the most common conditions on the list, which appears before age 10. Patients with type 3 conditions usually have organ abnormalities and neurological problems. They can face various health problems like bone pain, problems in the eye moment, breathing problems, and enlargement of organs, which is common in every type.

Like other Gaucher, this is also incurable but can be diagnosed with certain treatments. With proper medications, the person with type 3 Gaucher disease can live up to 20 to 30 years.

On revising all three types, here are some of the common symptoms that can help you find Gaucher disease:

  • Bone pain
  • Enlargement of organs like the liver and spleen
  • Belly pain
  • Bleeding problems
  • Bruising

This can cause some serious health issues, which can be unbearable and even cause death. Here are some of the causes that can be experienced with all types of Gaucher disease.

  • It can cause breathing problems due to the accumulation of fatty substances in the lungs.
  • The lipids in bone marrow can destroy the red blood cells, which can decrease the oxygen supply in the body.
  • Gaucher disease also lowers the platelet count, where people are suffering from bruises easily.
  • The organ’s spleen and liver get bigger due to fatty chemicals, which can lead to an enlarged and tender stomach.
  • The person with Gaucher’s problem gets tired frequently as compared to normal people.

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Diagnostic And Treatment Options For Gaucher Disease

As discussed above, no curable treatments are available for Gaucher disease, but various methods can diagnose it. Here, healthcare providers examine the symptoms first and ask for a blood test to examine the enzyme level. The DNA test is also conducted to understand the symptoms that are passed to the child. After having all the tests, the health care professional recommends a genetic counselor for  Enzyme Replacement Treatment (ERT) and  Substrate Reduction Therapy (SRT) as per the requirement.


Gaucher disease is one of the rare genetic diseases that are passed by the parents and can’t be cured easily. ERT and SRT are the only options to control the enzyme. So, it’s better to consult the healthcare professionals and follow the precautions as prescribed.

About the Author

Nicole Carter is a dedicated and passionate nutritionist, committed to helping individuals achieve their health and wellness goals through the power of proper nutrition. With a Bachelor's degree in Nutritional Science and years of practical experience.

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