Gaucher disease-Health Geeku

Gaucher Disease – Symptoms, Types And Treatment

Gaucher Disease

Gaucher s disease is inherited lipid storage diseases in which the harmful fatty substances (glucocerebroside) start to accumulate excessively in your spleen, liver, lungs, and brain, etc. Cause of insufficient activity of the lysosomal enzyme acid beta-glucosidase.

A deadly inherited non-curable disease.

This build-up fatty substances interfere with the organs and prevents them from working correctly.

Gaucher disease

Symptoms of Gaucher Disease

These symptoms include the Enlargement and malfunction of the organ cause of the build-up of lipids.

  1. Enlarged liver and spleen.
  2. Liver malfunctions if the lipid tissues build up in the lungs.
  3. Yellow spots in the eyes.
  4. Skeletal disorders.
  5. Low blood platelets cause Anemia.
  6. Neurological complications if it affects the brain.
  7. More vulnerable to infection.
  8. Lung and kidney impairment.

Type of Gaucher disease:

It is concealed into three types as follows.

Type 1 (or Nonneuropathic):

It is the most common form of this disorder, it may occur at any stage of our life. It’s called nonneuropathic since it does not affect the brain.

The patient will experience fatigue caused by anemia. Symptoms of this category include:

  • Liver and spleen enlargement,
  • Skeletal disorders,
  • In rare cases, lung and kidney impairment.

Type 2 (or Acute infantile neuropathic Gaucher disease):

Type 2 Gaucher disease is a life-threatening medical condition. Which is prone to infants, and the individual will die before his/her second birthday.

This type affects the central nervous system, and its symptoms involve brain damage, seizure, liver, and spleen Enlargement is apparent, and the movement of eyes abnormally, etc.

Type 3 (or chronic neuropathic Gaucher disease):

Type 3 also affects the central nervous system, but it progresses very slowly when compared to type 2.

Liver and spleen enlargement is variable and includes the other symptoms like blood disorders, skeletal irregularities, seizures, respiratory problems, etc

Treatment Options

There is no cure for this disease. Nonneuropathic(Type1) And chronic neuropathic(Type3) can treat effectively.

  • Medicine.
  • Enzyme replacement therapy (Bone marrow transplantation)
  • Anemic patients may benefit from blood transfusions.

No treatment method is available for type 2 brain damage.


Gaucher’s disease is a genetic mutation that affects the organs like spleen and liver. The disease caused by the deficiency of the enzyme, which in change causes fatty substances to accumulate in the same organs.

People who are suffered from this disease do not create sufficient glucocerebrosidase. There are three identified kinds of Gaucher s disease, and every type has many symptoms.

Type 1

Type 1 is the most seen, which does not affect nerves and may see in early life or adulthood. There are large numbers of people with this type of 1contain symptom, which are not severe that they ever contain any issues from the disease.

Both type 1 and type 2 will have the character to affect the nervous system in the body. It causes dangerous problems starting in infancy. Chronic neuropathic (Type 3) develops gradually than type 2. Some abnormal types are impossible to categorize within three.

Gaucher disease caused by the alteration in the single gene known as GBA

The symptoms for this disease are a low counting of red blood cells, Enlargement of the liver and spleen, diseases in the bone like fractures or bone pain, easy bruising caused by a low level of platelets.

Other findings based on the type of Gaucher disease that includes lung, heart, and nervous tissues. Gaucher disease diagnosis depends on clinical symptoms and lab testing.

It suspected in the person who has problems in the bone, changed in the red blood cells, enlarged spleen and liver, nervous difficulty, and easy bleeding. The blood test will be taken in the lab to check the performance of the enzyme glucocerebrosidase.

People who affected by this disease will contain a low level of enzyme performance in the body. The next type involves the test of DNA checking and the GBA gene. Effective treatment is an enzyme replacement therapy for patients who are suffering from this disease.

Other therapies are oral treatment, blood transfusions, spleen removal, joint replacement operation, and pain medications.

This article provides various information about the Gaucher s disease to bring awareness of this medical condition.