Gaucher Disease: Causes, Symptoms, Risk Factors, Diagnosis

Gaucher disease can result from an accumulation of particular fatty substances in particular organs, primarily the liver and spleen. This causes these organs to expand and might affect how they function.

Furthermore, the accumulation of fatty substances in bone tissue may weaken the bone and increase the risk of fractures. Your bone marrow might be damaged, which would reduce the ability of your blood to clot.

An enzyme that typically breaks down these fatty molecules is not working properly in persons with Gaucher disease. Treatment often includes enzyme replacement therapy.

The genetic illness known as Gaucher disease is more common in Ashkenazi Jews, who are mostly from Eastern and Central Europe. Symptoms can appear at any age.

Causes Of Gaucher Disease 

The Gaucher disease is inherited in an autosomal recessive manner. For the disorder to be passed down to their child, the Gaucher gene must be mutant or mutated in both parents.

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Symptoms Of Gaucher Disease 

There are many different types of Gaucher Disease, and even within a single kind, there are notable differences in the signs and symptoms of the condition. Type 1 is the most common type.

The syndrome may affect siblings differently, including identical twins, in varied degrees. Some people with Gaucher disease exhibit very little or no symptoms at all.

Most patients with Gaucher disease have some combination of the following problems:

• Stomach pains: Significant growth of the liver, particularly the spleen, can cause painfully enlarged abdomens.
• Abnormalities in the bone: Fractures brought on by the disease's weakening of the bone can be excruciating. It might also stop blood flow to your bones, which could cause some bone marrow cells to die.
• Blood Disorders: A decrease in healthy red blood cells, or anaemia, may be the cause of extreme fatigue. Gaucher disease can also affect coagulation cells and cause easy bruising and nosebleeds.

Less commonly, Gaucher disease affects the brain, which can cause swallowing difficulties, convulsions, tense muscles, and abnormal eye movements. When a child has a rare form of Gaucher sickness, they usually pass away by the time they are two years old. Usually, it begins in early life.

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Risk Factors Of Gaucher Disease 

The most common form of Gaucher sickness is more common in people of Ashkenazi (Jewish) heritage in Eastern and Central Europe.

Diagnosis Of Gaucher Disease 

During a physical examination, your doctor will palpate your or your child's abdomen to determine the size of the spleen and liver. To determine whether your child has Gaucher disease, the doctor will compare the weight and height of the child to conventional growth charts.

He or she might also recommend certain lab tests, imaging examinations, and genetic counselling.

Laboratory analyses

Blood samples can be tested to determine the enzyme linked to Gaucher disease. Genetic analysis can be used to determine whether you have the disorder.

Imaging Tests

Patients with Gaucher disease typically require routine tests to track the disease's course, including:

• Dual-energy X-ray absorptiometry is referred to as DXA. This method uses low-dose X-rays to measure bone density.
• MRI. Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged as well as whether the bone marrow has been affected.

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Treatment Of Gaucher Disease 

While there is currently no recognised treatment for Gaucher disease, there are ways to control symptoms, prevent irreversible damage, and improve quality of life. Some people's symptoms are so mild that they don't need to be seen by a doctor.

Your doctor will probably recommend routine monitoring to check for issues and the condition's progression. The frequency of monitoring that you require will depend on your circumstances.

Medications

Many patients with Gaucher disease have seen improvements in their symptoms since beginning treatment with:

• Enzyme substitution therapy This technique substitutes synthetic enzymes for the absent ones. These replacement enzymes are given intravenously as an outpatient procedure, typically in substantial doses every two weeks. Now and again, people may encounter an allergic or hypersensitive reaction when receiving enzyme therapy.
• Miglustat. This oral medication appears to keep fatty molecules from building up in the bodies of people with Gaucher disease. Two common side effects include diarrhoea and weight loss.
• Cerdelga. Furthermore, it seems that this drug prevents the buildup of fatty material that is present in patients with the most common kind of Gaucher disease. The following are possible adverse effects: fatigue, headache, nausea, and diarrhoea.
• Drugs to treat osteoporosis. These medications help rebuild bone that has been weakened by Gaucher disease.

Surgery

If your symptoms are severe and less intrusive therapies aren't a good fit for you, your doctor might suggest the following:

• Bone marrow transplantation. This treatment includes replenishing blood-forming cells that have been killed by Gaucher disease, thereby reversing many of the disease's signs and symptoms. Due to its higher risk, this approach is not as common as enzyme replacement therapy.
• Spleen removal. Splenic excision was a common treatment for Gaucher disease before the introduction of enzyme replacement therapy. This procedure is currently used as a last option.

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Complications Of Gaucher Disease 

Problems Gaucher disease may bring about:

• Obstetrical and gynaecological problems
• Development and puberty delays in children
• Cancers such as lymphoma, leukaemia, and myeloma that cause Parkinson's disease

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