Gaucher Disease-Symptoms, Treatment, Causes, Picture


Gaucher disease is a physical condition that happens when excessive amount of harmful fatty substances gets accumulated in your liver and other organs such as spleen, and lungs etc. It is also seen in body parts such as bone marrow as well as also in brain. This harmful fatty substance in the body accumulates around the tissues and causes hindrance to the normal functioning of different body organs. The condition may also lead to engorgement of the afflicted organ and pain in bones. There are several factors that may lead to development of Gaucher disease in the body. One of the most common causes of this disease is deficiency of glucocerebrosidase enzymes, which is responsible for metabolizing the harmful fatty substance glucocerebroside in the body. Perhaps this is the reason why the disease is also sometimes referred to as ‘glucocerebrosidase deficiency’.

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It should be known that this disease can affect people of any age. The disease is said to be very common in Central as well as Eastern Europe and amongst Jewish people.

Who discovered Gaucher Disease?

The disease was named by the French physician Phillipe Gaucher who first conducted tests and tried to seek the symptoms, causes and treatment options.

Gaucher Disease- Causes:

You already know that the major and chief cause of Gaucher disease is deficiency of glucocerebrosidase. However, it should be known that the disease is also categorized in the list of hereditary conditions. This means that the condition may be genetic as well. However, for the children to develop the genetic Gaucher disease, both father and mother should be afflicted with the disease. This is called autosomal recessive inheritance. It is studied that there are 300 genetic mutations linked with Gaucher disease. However, chances of genetic Gaucher disease affliction is less as even when both parents are carrier of the disease there are merely 25% chances of the baby getting afflicted by the disease. There are 50% chances that the child may be unaffected carrier and 25% chances that the child may not carry the disease at all.

Gaucher Disease- Symptoms:

Like other disease even Gaucher disease have some associated symptoms. However, the disease may show dissimilar symptoms in case of different individuals. Gaucher disease has been classified in three different categories, and symptoms may also vary according to the disease type. Here are some of the types of Gaucher disease and their symptoms.

Type 1 Gaucher Diseases Symptoms:

This form of Gaucher disease is considered as the most common type of Gaucher issue. This is also the most benign kind of condition amongst all three types of Gaucher disease. This type of disease covers approximately 90% of all Gaucher disease affliction cases, this explains how common the condition is. In case of type 1 disease there is no damages to the brain recorded. Gaucher type 1 disease can affect people of any age; however, it is said to be most common in people between the age group of 30 to 33 years. Symptoms of this condition may include:

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• Bone thinning (known as osteopenia) or other skeletal abnormalities

• Pain in bone

• Hepatomegaly or Engorged Liver

• Spelnomegaly or Enlarged spleen

• Reduction in healthy RBC or Red Blood Cell

• Exhaustion

• Pingueculae or occurrence of yellow spots in eye

• Postponed puberty

• Bleeding from nose

Type 2 Gaucher disease symptoms:

Gaucher type 2 disease is amongst the rare Gaucher disease. This is also one of the most severe types of the disease. The condition is mostly seen in infant ageing 1 year and develops through the course of three months. When a baby is affected by the conditions his/ her brain undergoes damages that may grow rapidly. Type 2 Gaucher issue may show any of the above mentioned symptoms including some other symptoms such as:

• Seizures

• Rigidity of body

• MR or Mental retardation

• Cognitive decline

• Dementia

Type 3 Gaucher disease:

Gaucher type 3 disease is again one of the seldom conditions. It is found mainly in children as it onset mostly during early years of life and progresses though slowly as compared to type 2. Even in case of type 3 Gaucher disease the brain is afflicted by the condition; however, the intensity of effect on brain is mild. In this type of condition some of the aforementioned symptoms may be noticed along with some other symptoms such as:

• Cognitive decline

• Dementia

• Loss or hindrance of muscle coordination

• Eye movement abnormality

When to consult a doctor:

Not only in case Gaucher disease, but any abnormal physical condition should be diagnosed and treated immediately. If you notice any signs or symptoms that are associated with Gaucher disease, it is essential to consult a doctor and seek immediate medical attention. If in case the symptoms are due to Gaucher type 2 disease, then it is a serious case and overlooking the symptoms may prove to be fatal as well.

Gaucher Disease treatment:

The treatment for Gaucher disease may depend on its type and causes. In some cases wherein the condition is Type 1 Gaucher disease doctor may suggest no treatment. On the other hand, unfortunately, there is no specific treatment for Gaucher disease Type 2. However, in case of Gaucher Type 3 your doctor may suggest some treatments such as:

Enzyme replacement Therapy or ERT:

In this treatment technique synthetic enzymes are used to replace the deficient enzyme in the body. The enzymes are given in high doses to the patient through intravenous mode in interval of two weeks. The treatment may sometimes reduce engorgement of liver and spleen as well as it may also resolve blood abnormalities. This is said to be very effective in type 1 Gaucher disease.

Bone marrow transplantation:

In severe cases of Gaucher disease, wherein the patients is suffering from bone issues and other treatments does not show significant results, then bone marrow transplant may be suggested. In this treatment technique the damaged blood cells are replaced with health blood cells which may also reverse the symptoms of gaucher disease.

There are certain medications such as ‘miglustat’ which are said to be effective in treating Gaucher disease. However, the medication should not be taken without informing your doctor. It is essential to seek doctor’s advice for treating the disease. A certified doctor can provide efficient aid in treating Gaucher disease.

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