Gaucher'S Disease

1 What is Gaucher's Disease?

Gaucher’s disease is a disease associated with the buildup of certain fatty acid substances in certain organs of the body. This often affects the spleen and the liver.

They are known to make the organs grow bigger (hepatomegaly or splenomegaly) more than those of the normal and have an effect on their function.

The fatty substance that is formed in Gaucher’s disease also forms in the bone tissue. It causes the bone to become weak and may be vulnerable to bone fractures. When the bone marrow is affected, it also affect with the ability of the blood to clot. A special enzyme that induces the breakdown of the fatty acid substance in people suffering from Gaucher’s disease is lacking.

Treatment for this condition for this enzyme replacement therapy. This disease can be passed over from one person to another.

It also very common among the jews of Eastern and central European descents (Ashkenaz). The symptoms for this condition may appear at any age

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2 Symptoms

The symptoms for Gaucher’s disease may vary. Even very related and identical twins will present different levels of severity in this disease. While in many other people, they may not have symptoms completely.

The variation in the symptoms may be presented in the form of problems with:

  • Abdominal complaints as a result of the liver and spleen enlargement. This may cause the abdomen to be painfully distended.
  • Skeletal abnormalities in Gaucher’s disease lead to the weakening of the bones leading to vulnerability in the bone fractures.
  • It also leads to the interference with the supply of blood to the bones.
  • It has also been associated with the death of some parts of the bones.
  • Moreover, it is also associated with blood disorders, which lead to the reduction in the number of healthy red blood cells (Anemia). This can result to severe fatigue.
  • It also affects the cells that regulate blood clotting. This can lead to easy bruising and nosebleeds.

It is rare however for the disease to affect the brain, which can be associated with the abnormal movement of the eye, muscle rigidity and difficulty of swallowing and sometimes seizures.

A particular rare type of Gaucher’s disease also begins at infancy and may lead to the death of the infant by the age of 2. In case of a baby with the symptoms of Gaucher’s disease. It is recommended that you should see a doctor immediately. 

3 Causes

Gaucher's disease is caused by a recessive gene mutation.

This has been determined to be passed along as an autosomal recessive pattern. However, for this to be expressed in the offspring’s, both parents must be carriers of the genetic mutations for the child.

4 Making a Diagnosis

Making a diagnosis of Gaucher's disease is done by performing several tests.

You are most likely to be the first person to bring the symptoms to the attention of your family doctor.

He will then need to refer you to the a doctor who specializes in the blood disorders (hematologist) or a geneticist who is a specialist of genetic disorders. There are several things that you will need to do before seeing your doctor.

First, write down a few possible answers to the following questions:

  • Has anyone suffered from Gaucher’s disease in your family?
  • Has anyone in your family died of Gaucher’s disease at the age of 2?
  • What are the supplements and vitamins you are using or have used previously?

At the same time, one needs to make arrangements on what to expect from the doctor.

  • What are the symptoms?
  • When did they start?
  • Is there pain in abdomen or bones?
  • Does bruising occur very easily?
  • Do you experience nose bleeding?
  • What is the main heritage of your family?
  • Are there special symptoms that have occurred in your family?

While diagnosing the disease, the doctor will press on your abdomen to check on the size of the spleen or liver. He will also recommend on certain special laboratory tests. This may include imaging and genetic counseling. Lab test may involve checking of the levels of the enzymes associated with the disease. Genetic analysis can also be used to reveal whether one had the disease of not.

Imaging tests can also be done as confirmatory tests and to track the disease progress. The imaging techniques used include the dual energy X-ray absorptiometry (DXA) which uses low levels of X rays to measure the bone density.

Magnetic resonance imaging (MRI) can also be used for observing the size of the spleen and liver is enlarged and whether the bone marrow is affected. Genetic screening of preconception and prenatal testing can also be used before one starts a family especially among the Jews more especially if there are previous history of Gaucher’s diseases. Prenatal testing is also recommended to check whether the fetus is also at risk of Gaucher’s disease. 

5 Treatment

There is no cure for Gaucher’s disease, however, a variety of treatment options are available. They help in the control of the symptoms. They are also known to control irreversible damage and improve the quality of life.

Some people however may have mild symptoms that they may not require treatment. Most of the people used enzyme replacement therapy. This is done using drugs that replace the deficient enzyme with the artificial enzymes.

The replacement enzymes are administered in an outpatient procedure intravenously at a higher dose in the first two weeks. Some people may experience an allergic reaction or hypersensitivity reaction as a result of the treatment. This help limit the production of the substances that cause the enlargement of the liver and the spleen. Some oral medication may include miglustat (Zavesca) and eliglustat (Cerdelga). However, they help lower the production of fatty acids that build up in people with Gaucher’s disease.

Nausea and diarrhea are the common side effects. They also help in the treatment of osteoporosis. They therefore are important in the rebuilding of the weakened bones by the Gaucher’s disease. In case the symptoms are very severe, the doctor may consider a more invasive procedure using surgical procedures.

This may include: Bone marrow transplant where blood forming cells damaged are removed and replaced. This has potential of reversing Gaucher’s signs and symptoms. It is however a high risk approach and is performed less than in enzyme replacement therapy. The spleen can be removed and is often a last resort in case the enzyme replacement therapy is not working. 

6 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with Gaucher's disease.

It is difficult for the people suffering for people that suffer from chronic illnesses and it is even harder for people suffering from rare diseases such as Gaucher’s disease. In fact, very few people have information of this type of disease and the challenges are less understood.

However, knowing someone with a child with Gaucher’s disease is helpful. In addition, information can also be found at the National Gaucher’s Foundation, it also have mentor programs that links people who have the disease. More information can be found in their website. The doctor can also advice you on any form of local support in the region. 

7 Risks and Complications

Most of the people in the eastern and central European Jewish ancestry are known to be at a higher risk of developing the most common variety of Gaucher’s disease.

It also predisposes one to the risk of growth delays in infants, Gynecological and obstetric problems, Parkinsons disease, cancer diseases such as Myelonoma, leukemia and lymphoma. 

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