Gaucher Disease

A buildup of fatty substances in certain body organs (including the spleen and liver) is called Gaucher disease. This condition prevents these organs from working properly. However, these fatty substances may also build up in the bones, which leads to weakened bones and an elevated risk of fractures. Sometimes, Gaucher disease may affect the ability of blood to clot if the bone marrow is impacted.

Furthermore, the liver enzymes that help break down fatty substances may also not work well, and treatment may include enzyme replacement therapy. Symptoms of this condition may appear at any age.

Gaucher disease is an inherited disorder that commonly happens in Jewish people of Central and Eastern European descent (Ashkenazi).

Symptoms

The symptoms depend on the type of Gaucher disease you experience. One of the most common Gaucher disease types is the first type. While some people experience mild or no symptoms at all, others may notice severe ones. In most cases, people with this disorder experience the following problems. Examples include:

  • Abdominal problems – The spleen can become enlarged significantly due to the liver, which leads to pain in the belly.
  • Skeletal abnormalities – If this condition affects bones it may increase your risk of painful fractures. Moreover, it may impact the blood supply to the bones causing bones to die.
  • Blood disorders – Severe fatigue can occur if a decrease in healthy red blood cells (anemia) occurs. This inherited disorder also negatively affects the cells responsible for clotting.

Rarely, this condition may impact the brain causing muscle rigidity, swallowing problems, seizures, and abnormal eye movements. More rarely, there is a subtype of Gaucher disease that usually appears in infancy, and in most cases leads to death by 2 years of age.

If you experience any of the previous symptoms and health problems, immediately visit a doctor.

Causes

This condition passes from biological parents to biological children (also called autosomal recessive). However, both biological parents must carry the abnormal gene that causes Gaucher disease for the condition to be inherited by their children. Otherwise, children will not inherit the condition but may get the abnormal gene anyway. Such people are called by doctor’s carriers.

An increased risk of developing Gaucher disease have people of Central or Eastern European Jewish (Ashkenazi) descent.

What Are The Possible Complications of Gaucher Disease?

If you ignore this condition and do not get treatment, it may lead to certain life-threatening conditions. These include:

  • Obstetric and gynecological issues
  • Parkinson’s disease
  • Certain cancers (including leukemia, lymphoma, myeloma, and others)
  • Delayed puberty and growth in children

Diagnosis

To diagnose this genetic disorder, doctors will perform a physical examination to check the size of the liver and spleen. They also will compare the child’s height and weight with standard growth charts. In addition, doctors may perform additional tests to exclude other health conditions that cause similar symptoms. For example:

Laboratory Tests

Blood tests are done to check enzyme levels associated with Gaucher disease. In addition, physicians may recommend genetic testing because this is the only test that can confirm this inherited disorder.

Imaging Tests

Those who suffer from Gaucher disease perform the following tests to manage the progression of the disease. These include:

  • MRI (magnetic resonance imaging) scans – This test uses a strong magnetic field and radio waves to produce detailed images of different body organs and tissues. It helps your doctor see if the liver or spleen is enlarged and if the condition affects the bone marrow.
  • Dual-energy X-ray absorptiometry (DXA) – It involves low-level X-rays to measure the density of the bones.

Furthermore, if you or your partner is of Ashkenazi Jewish heritage with a family history of this genetic disease, doctors may recommend prenatal screening that helps to see if the baby is at risk of Gaucher disease.

Treatment

There is no way to cure this genetic disorder but with proper treatment, you can get rid of symptoms, prevent permanent damage, and improve your quality of life. In any case, some people experience either mild or no symptoms and do not need treatment. Check below some treatment options usually recommended by doctors for people with Gaucher disease:

Medicines

There are many people who noticed improvements in the symptoms with the following treatments. Examples include:

  • Enzyme replacement therapy – This treatment option helps supply the liver enzyme deficiency. The artificial enzymes usually are given intravenously mostly in high doses every 2 weeks. Sometimes, people may experience an allergic or hypersensitivity reaction after this therapy.
  • Miglustat – This is a medicine that helps reduce the build-up of fatty substances. Weight loss and diarrhea are the most common adverse reactions caused by this medicine.
  • Eliglustat – This mediation works similarly to Miglustat by preventing the build-up of fatty substances in the spleen and liver. The most common side effects include headaches, fatigue (extreme tiredness), nausea, and diarrhea.
  • Osteoporosis medicines – This group of medications is prescribed for people with weakened bones due to Gaucher disease. It helps rebuild bones and prevent fractures.

Other Treatment Options

In severe cases, people may need the following surgery and procedure. For example:

  • Bone marrow transplant – In such cases, the blood cells that are damaged by this genetic disorder are removed and replaced. It may help to reverse many symptoms. However, the risks outweigh the benefits and that’s why enzyme replacement therapy is frequently used.
  • Spleen removal – This is a procedure in which surgeons will remove the spleen. This treatment option is usually used when people do not notice any improvements after other treatments.

Frequently Asked Questions

What are Gaucher disease types?

Doctors classify this genetic disorder according to onset age. For example:

  • Type 1 – The first type affects about 90% of people with this genetic disorder and it is the most common type. People with this type usually experience the following symptoms. For example, anemia, fatigue, bruising, enlarged spleen or liver, and problems with the skeletal system, lungs, or kidneys.
  • Type 2 – This type happens quite rarely and it often affects babies between 3 to 6 months of age. The second type in most cases is fatal. Severe brain damage, movement problems, and enlarged spleen are the most common symptoms.
  • Type 3 – The third type is considered also common but worldwide. In the United States, it still occurs rarely. Symptoms of this type of Gaucher disease include breathing problems, blood disorders, seizures, as well as enlarged liver and spleen.

Can Gaucher’s disease be cured?

This condition cannot be cured but with proper treatment, you may control the symptoms and improve your quality of life.

Is Gaucher disease a painful condition?

There are a lot of people who experience chronic bone pain often caused by reduced blood flow to the bones. If you have additional questions, ask your healthcare professional.

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