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GAUCHER DISEASE

GAUCHER DISEASE

Accumulation of some fatty substances in the spleen and liver results to Gaucher disease.

This disease is an inherited one and is normally found in Jewish people of Eastern and Central European descent (Ashkenazi). The symptoms of this disease can develop at any age.

Types

There are various kinds of Gaucher disease. Type 1 Gaucher disease is the most common one.

 

Symptoms

Signs and symptoms vary widely even within the same sub type of this disorder.

 

For some people, there will be only mild or no signs. Most people who suffer from Gaucher disease have the following symptoms:

 

  • Skeletal abnormalities
  • Abdominal complaints
  • Blood disorders
  • Abnormal eye movements, muscle rigidity,difficulty swallowing and seizures are seen rarely
  • A less common sub type of Gaucher disease develops in infancy and usually leads to death by 2 years of age

Diagnosis

Physical examination, lab tests and imaging tests are used to diagnose Gaucher disease.

Your doctor will gently press on your child’s abdomen to find the size of spleen and liver.

To confirm further, your doctor will compare your kid’s height and weight with normal values.

Lab tests

Blood tests will check for the levels of enzymes related to Gaucher disease.

Imaging Tests

Dual energy X-ray absorptiometry (DXA) and MRI are used to check if the bone marrow is affected and if the liver is enlarged.

Preconception screening and prenatal testing

Genetic screening is recommended If you or your partner has a heritage of Ashkenazi Jewish or anyone of you have a family history of this disease. Prenatal testing is also recommended by doctors in some cases.

Treatment

Though there is no remedy for Gaucher disease at the moment, many treatments can help manage symptoms, avoid severe damage and enhance quality of life.

Based on your health condition, your doctor will recommend that you monitor the disease progression.

Medications

The following medicines have shown improvements in people who have Gaucher diease:

  • Miglustat (Zavesca)
  • Eliglustat (Cerdelga)
  • Enzyme replacement therapy
  • Osteoporosis drugs

For people with severe symptoms and if non- or less-invasive treatments fail, spleen removal or bone marrow transplant may help improve the condition.

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