Gaucher’s Disease: Causes, Symptoms, and Diagnosis
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Gaucher's Disease

What is Gaucher’s disease?

Highlights

  1. A deficiency of the enzyme glucocerebrosidase causes the inherited condition called Gaucher’s disease.
  2. If you have Gaucher’s disease, your body doesn’t break down or store fatty substances properly. This can cause fat to accumulate around your vital organs.
  3. There are three types of Gaucher’s disease. Type 2 is usually fatal by age 2. Enzyme replacement therapy can treat types 1 and 3.

Gaucher’s disease is an inherited condition in which your body doesn’t correctly store fatty materials called lipids. Fatty substances can build up around your vital organs, including your:

  • liver
  • spleen
  • lungs
  • bones
  • brain

Gaucher’s disease is a metabolic disease. The fat accumulation it causes affects how certain bodily systems function. The condition is also called a lipid storage disorder.

Signs and symptoms of the three types of Gaucher’s disease

Symptoms

You’re more likely to have type 1 Gaucher’s disease if you’re of Ashkenazi Jewish descent. The other types of the condition can affect people of all heritages equally.

Type 1

Type 1 Gaucher’s disease is also called “non-neuropathic Gaucher’s disease.” It’s the mildest form of the condition and the most common. The symptoms of type 1 can begin in childhood or adulthood. They range in severity.

The symptoms of type 1 Gaucher’s disease include:

  • bone pain
  • bone breaks
  • a swollen liver and spleen
  • yellow spots in your eyes

Type 1 Gaucher’s disease is characterized by a low number of platelets in your blood. This can lead to bruising, fatigue, and nosebleeds. Children diagnosed with this form of the condition may experience delayed puberty. Type 1 Gaucher’s disease doesn’t affect the brain.

Type 2

Type 2 Gaucher’s disease is called “acute infantile neuropathic Gaucher’s disease.” It’s the most serious form of the condition. According to the National Gaucher Foundation, type 2 Gaucher’s is fatal and typically causes death before 2 years of age. Babies with this condition usually receive a diagnosis between the ages of 3 and 6 months old.

Many of the symptoms of type 1 are also present in children with type 2 Gaucher’s disease. Seizures and brain damage can also occur.

Type 3

Type 3 Gaucher’s disease is called “chronic neuropathic Gaucher’s disease.” Gaucher’s disease is usually diagnosed during the teenage years. It’s a progressive form of Gaucher’s disease. People with type 3 Gaucher’s experience liver and spleen enlargement, which progresses more rapidly in type 3 than other types.

Brain damage can occur in type 3 Gaucher’s disease, but it doesn’t affect everyone with this type. In some cases, it can lead to cognitive impairments. Your eye movements and muscle coordination may also be affected. Breathing problems may exist as well.

According to the National Gaucher Foundation, the lifespan of adults with type 3 Gaucher’s disease is shorter than the average adult, even with treatment. Adults with this condition usually live into their 30s or 40s.

Causes of Gaucher’s disease

Causes

A deficiency of the enzyme glucocerebrosidase causes Gaucher’s. This enzyme is responsible for breaking down fatty substances in your body. When you don’t make enough glucocerebrosidase, your body doesn’t break down lipids properly. As a result, the lipids accumulate around your organs.

Glucocerebrosidase deficiency is a genetic condition. The gene is recessive, so both of your parents need to carry the gene for you to develop Gaucher’s disease. If both of your parents are carriers of the gene but they don’t have the disease themselves, you only have a 25 percent chance of inheriting two copies of it. You have a 50 percent chance of inheriting one copy of the gene, in which case you probably won’t develop symptoms. You have a 25 percent chance of inheriting no copies of the gene and not being a carrier yourself.

Diagnosing Gaucher’s disease

Diagnosis

Your doctor can use blood work to measure your enzyme levels to see if you have lower-than-normal levels of glucocerebrosidase. If you do, they’ll perform a genetic analysis to confirm a diagnosis of Gaucher’s disease. Genetic mutation screenings will help them determine if you have the gene for the disease. It may also help them learn which type of the disease you have.

If you’re diagnosed with Gaucher’s disease, you may need periodic testing to assess your condition. Your doctor can use imaging tools to learn how your condition is progressing. They can use a dual-energy X-ray absorptiometry scan, which is a special type of X-ray, to measure your bone density. They can also use an MRI scan to assess the condition and size of your liver and spleen.

Treating Gaucher’s disease

Treatment

Depending on the type of Gaucher’s disease you have, you may be eligible for some treatment options.

Enzyme replacement therapy

Enzyme replacement therapy is the treatment for types 1 and 3 Gaucher’s disease. You’ll receive a dose of intravenous enzymes every two weeks to boost your glucocerebrosidase levels. This will help reduce inflammation of your liver and spleen. It will also promote better bone density. However, enzyme replacement therapy doesn’t reverse brain damage sustained by people with Gaucher’s disease.

Bone marrow transplants

If you have anemia or other signs of red blood cell abnormalities, you may also require bone marrow transplants. In a bone marrow transplant, you’ll undergo chemotherapy, radiation therapy, or both to kill your existing bone marrow. Then, your doctor will transplant bone marrow cells from a donor into your bone marrow. If the transplant is successful, these cells will begin to grow and replace your bone marrow and blood.

Other treatments

Other treatment methods vary, according to the damage caused by Gaucher’s disease. For example, if your joints are affected, you may need joint replacement surgery to improve your mobility and quality of life. If you have an enlarged spleen that doesn’t respond to enzyme replacement therapy, you may need to have it surgically removed. In some cases, you may also benefit from blood transfusions.

Long-term outlook

Outlook

Type 2 Gaucher’s disease is fatal, usually causing death by 2 years of age. Enzyme replacement therapy may help improve your life expectancy and qualify of life if you have type 1 or type 3 Gaucher’s disease. Other treatments may also help you manage your condition and possible complications. Ask your doctor about your specific condition, treatment options, and long-term outlook.

If you have Gaucher’s disease, your children are at higher risk of inheriting the defective gene and having the condition. Genetic counseling can help you and your partner assess your risk of having children with the disease.

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