GAUCHER'S DISEASE

Gaucher’s Disease

Overview and Facts

Gaucher’s disease is an genetic condition that is due to the lack of the enzyme glucocerebrosidase. It is the buildup of fatty matter in the organs, especially in the liver and spleen. These fatty substance can increase in the bone tissue, increase the risk of fractures and weaken the bones. It belongs to the diseases called lysosomal storage disease, which are named after a type of cell that is involved in the formation of glycolipid. A person with this disease lacks the enzyme or protein called glucocerebrosidase. It is a type of lipid known as a glucosylceramide, which are fats used for energy. If these lipids are defective, they will start to collect inside the cells of the brain, liver, lungs and bone marrow. If this occurs, the organs will not function properly.

Types and Symptoms

TYPES AND SYMPTOMS

Gaucher’s disease has three types: Gaucher’s disease 1 or nonneuronopathic Gaucher, Gaucher’s disease 2 or acute neuronophatic, and Gaucher 3 or chronic neuronophatic.

Gaucher’s Disease type 1 is the most common kind of Gaucher’s disease. It happens when the body does not have enough glucocerebrosidase. Glucocerebrosidase is a important enzyme that creates the fatty lipid glucocerebroside. It leads to the buildup of Gaucher’s cells in the spleen, bone marrow and liver. GD1 doesn’t involve the brain and spinal cord.

Its symptoms include the following:

  • Enlargement of the spleen and liver
  • Low blood counts
  • Bone disease
  • Bleeding problems

Gaucher’s disease type 2 brings about harmful amounts of fatty matter called glucocerebroside which collects in the spleen, lungs, liver, bone marrow and the brain.

Symptoms include the following:

  • Brain damage
  • Seizures
  • Swallowing difficulties
  • Abnormal eye movements

Gaucher’s Disease type 3 occurs during the first decade of life. People with GD3 experience neurological deficits and develop complications. They may survive up to middle age with many symptoms.

Its symptoms include the following:

  • Cognitve problems
  • Seizures
  • Skeletal irregularities
  • Eye movement problems
  • Enlargement of the liver and spleen
  • Blood disorders
  • Respiratory problems

Diagnosis & Medications

DIAGNOSIS

It is genetic; so if your family has the disease and if you are experiencing symptoms, it is important that you get examined.

Diagnosing it includes having a blood test.

The doctor also check your physical appearance and presses your child’s abdomen to check the size of the liver and the spleen.

A BGL test is done to detect enzyme activity.

All patients with Gaucher’s disease are low in glucocerebrosidase enzyme.

 

TREATMENT

Treatment for this disease means reducing its symptoms.

There are two kinds of treatments that could ease symptoms. These are:

  • Enzyme replacement therapy, which helpsbalance the amount of glucocerebrosides in the body
  • Substrate reduction therapy which helps reduce the amount of glucocerebrosides in the body

Other medications may include the following:

  • Miglustat is an oral medication for the production of fatty matter that causes Gaucher’s disease.
  • Eliglusta which inhibits the production of fatty material
  • Osteoporosis drugs to rebuild weak bones

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