Causes and Treatments of Gaucher disease | Endocrinology

Gaucher disease

What is Gaucher disease?

Gaucher disease is the result of the accumulation of certain fatty substances in certain organs, especially the spleen and liver. This causes these organs to expand and affect their function.

Fatty substances can also accumulate in bone tissue, weaken the bone and increase the risk of fractures. If the bone marrow is affected, it can interfere with the blood’s ability to clot. Fatty substances (sphingolipids) weaken bones and expand organs, so they cannot function. There is no cure for gout, but treatments can relieve symptoms and significantly improve quality of life.

The enzyme that breaks down these fats does not work properly in people with gout. Treatment often includes enzyme replacement therapy. Gaucher disease is very common among Jews of Eastern and Central European (Ashkenazi) descent. Symptoms appear at any age.

What is a carrier of Gaucher disease?

If you are a carrier of Gaucher disease, it means that you have the same genetic mutation associated with the disorder. To have the parent disease, you must have two mutations in the GCase gene; One from your mother and the other from your father. Learn about the heredity and genetics of gout disease and which mutations are more serious.

When both parents are carriers, there is a 1 in 4 chance for each pregnancy, with the chance of having a baby with this disease. People with Gaucher disease have no signs or symptoms.

Who is likely to get Gaucher disease?

Anyone can have the disorder, but Ashkenazi (Eastern European) Jewish ancestors have type 1 Gaucher disease. Ashkenazi (or Ashkenazic) 1 in 450 people of Jewish descent have the disorder and 1 in 10 have a genetic mutation that causes gout.

Ancestors have no influence on who gets type 2 and type 3 gout disease. This disorder affects people of all races.

How does Gaucher disease affect the body?

The effects of gout disease on the body vary from person to person. Some people experience severe symptoms of gout disease, while others do not.

If you have gout, your body will be affected in the following ways:

  • Inflammation of the stomach due to an enlarged spleen and liver.
  • Bone pain and bones that break easily
  • Anemia (low blood counts) and fatigue
  • Bleeding problems and trauma

Types of Gaucher disease

Based on the presence or absence of early brain involvement, scientists divide gout disease into 3 types:

  • Type 1 Gaucher disease: Type 1 Gaucher disease is a very common disease in Western countries, where approximately 95 per cent of patients are found. Symptoms of an enlarged spleen and liver, bone problems and fatigue. Brain development is normal. Learn more about type 1 Gaucher disease, which can be treated.
  • Type 2 Gaucher disease: This type of Gaucher disease is very rare and involves severe neurological (brainstem) abnormalities. It is usually fatal in the first 2 years and currently cannot be treated due to severe and irreversible brain damage.
  • Type 3 Gaucher disease: This type of Gaucher disease is very rare in the United States and Europe; however, it is the most common form of the disease worldwide. Type 3 Gaucher disease has a severity between 1 and 2, with type 1 and some neurological involvement. While patients typically have a short lifespan, some can live up to 50 years with treatment. Learn more about types 2 and 3 of Gaucher disease.

Symptoms of Gaucher disease

There are different types of gout and the signs and symptoms of the disease vary greatly within the same type. Type 1 is very common. Siblings and identical twins also have varying degrees of severity of the disease. Some people with gout have little or no symptoms.

Most people with gout have different levels of the following problems:

  • Abdominal complaints Since the liver and especially the spleen can expand dramatically, the abdomen becomes painful.
  • Skeletal abnormalities. Gaucher disease weakens the bone and increases the risk of painful fractures. It also cuts off the blood supply to the bones, causing parts of the bone to die.
  • Blood disorders A decrease in healthy red blood cells (anemia) can lead to severe fatigue. Gaucher disease also affects the cells that cause clotting, which can easily lead to bruising and sores.
  • More rarely, Gaucher disease affects the brain, causing abnormal eye movements, muscle stiffness, difficulty swallowing, and seizures. A rare subtype of gout disease begins in childhood and usually leads to death by 2 years of age.

What causes gaucher disease?

Gaucher disease is not something you “catch” like a cold or the flu. It is an inherited condition caused by a problem with the GBA gene. You get the disease when both parents send you the damaged GBA gene. Even if you don’t have Gaucher disease, you can pass the wrong gene to your child.

When these enzymes are not enough in the body, fatty chemicals (called gouache cells) are formed in the organs, bone marrow, and brain. Excess fat can cause a variety of problems and symptoms. They affect the functioning of organs and destroy blood cells and weaken bones.

Diagnosis of Gaucher disease

During the physical exam, your doctor will press on you or your baby’s abdomen to check the size of the spleen and liver. To find out if your child has gout, the doctor will compare your child’s height and weight with standard growth charts.

He or she may also recommend some lab tests, imaging scans, and genetic suggestions.

  • Lab tests
  • Blood samples can be tested to determine the levels of enzymes associated with gout. Genetic testing can tell if you have the disease.
  • Imaging tests
  • People with gout usually need regular check-ups to know its progression:
  • Double power X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
  • Magnetic resonance. Using radio waves and a strong magnetic field, an MRI can show if the spleen or liver is enlarged and the bone marrow is affected.
  • Preconception screening and prenatal tests
  • If you or your Ashkenazi partner are of Jewish descent or either of you has a family history of gout, you may want to have genetic testing before starting a family. In some cases, doctors recommend a prenatal test to see if the fetus is at risk for gout.

Gaucher disease treatment

There is no cure for gout, and a variety of treatments can help control symptoms, prevent irreversible damage, and improve quality of life. Some people have mild symptoms that do not require treatment.

Your doctor will recommend regular monitoring of disease progression and complications. How often you need to be monitored depends on your condition.


Many people with gout have seen improvements in their symptoms after starting treatment:

  • Enzyme restoration therapy: This procedure replaces the defective enzyme with synthetic ones. These reconstitution enzymes are administered intravenously (usually intravenously), usually in large doses over a period of two weeks. Occasionally, people will have an allergic or hypersensitivity reaction to enzyme treatment.
  • Miglustat (Zaveska): These oral medications interfere with the production of fats that occur in people with gout. Diarrhea and weight loss are common side effects.
  • Eliglustat (as Serdelga): This medicine also prevents the production of fats that occur in people with the most common form of gout disease. Possible side effects include fatigue, headache, nausea, and diarrhea.
  • Osteoporosis: These types of medications can help rebuild bone weakened by gout.

Surgery and other procedures

If your symptoms are severe and you are not a candidate for less invasive treatments, your doctor may prescribe:

  • Bone marrow transplant: During this procedure, blood cells that have been damaged by Gaucher disease are removed and replaced, which can reverse most Gaucher signs and symptoms. Since it is a high-risk procedure, it occurs less frequently than enzyme replacement therapy.
  • Spleen removal: Before enzyme replacement therapy was available, removal of the spleen was a common treatment for gout. However, this approach is often used as a last resort.
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