What is Gaucher Disease: Types, Symptoms, and Treatment

Gaucher disease, or Gaucher’s disease, is a genetic condition passed down through families. This is a lysosomal storage disorder, causing fatty substances to accumulate in the bone marrow, liver, and spleen. The fatty substances can weaken bones and enlarge organs. While there is no cure for Gaucher disease, treatment can enhance the quality of life.

Types of Gaucher Disease

• Type 1: This is the most common form of Gaucher disease. It affects nearly 90% of people who contract Gaucher disease. If you have type 1, your blood lacks sufficient platelets. This can make you bruise easily and make you tired. Some of the symptoms may start at any age. For example, you might have an enlarged liver or spleen. In addition, you may have problems with your kidneys, lungs, and bones.
• Type 2: This form of the disease affects infants between 3 and 6 months of age. It is perilous.
• Type 3: Gaucher type 3 is the most common disease, but it is rare in the United States. It is seen before age ten and can cause bone and organ abnormalities and neurological problems. However, with treatment, many people with Gaucher disease type 3 can live long and healthy lives.

Causes

Gaucher disease is a disorder that is inherited. It is passed down through families. People with Gaucher disease don’t have enough of an enzyme called glucocerebrosidase (GCase). GCase enzymes are proteins that help break down fats (sphingolipids) in the body. If the body lacks enough enzymes, fatty substances called Gaucher cells accumulate in the organs, bone marrow, and brain. Excess fat can cause a wide range of problems and symptoms. In addition, their effects on the organs can cause problems, including the destruction of blood cells and the weakening of bones.

Symptoms

Gaucher disease experiences different symptoms that vary from one person to another. Some people with Gaucher disease have little or no symptoms. However, symptoms can lead to serious health problems. Signs of Gaucher disease include:

• Problems affecting the organs and blood: As fatty chemicals build up in the body, people with Gaucher disease may experience various symptoms in the blood and organs. Sometimes, people develop brown spots on their skin. Cold symptoms can differ in severity, ranging from mild to severe, and include various signs.
• Anemia occurs when lipid buildup in the bone marrow damages red blood cells. Red blood cells are essential for transporting oxygen to various tissues in the body. Anemia is a condition in which there are too few red blood cells.
• Enlarged Organs: The spleen and liver get more significant as fatty substances build up, which causes the belly to become enlarged and tender. The enlarged spleen can damage platelets, leading to a low platelet count and bleeding problems.
• Fatigue is common in people with Gaucher disease due to their anemia.
• Lung problems can be caused by the accumulation of fatty chemicals in the lungs. This can make it difficult to breathe.
• Bleeding and bruising issues: Low platelet counts cause people with Gaucher disease to bruise easily. Their blood doesn’t clot as it should. As a result, they are at risk of heavy or prolonged bleeding, even after minor injuries, surgery, or nosebleeds.
• Pain: Decreased blood flow can cause pain in the bones. As a result, they face an increased risk of severe or prolonged bleeding, even from minor injuries, surgery, or nosebleeds.
• Osteonecrosis: This condition, called avascular necrosis, happens when insufficient oxygen reaches the bones. Without enough oxygen, bone tissue can break down and die.
• Bones fracture easily: Gaucher disease causes osteoporosis, which occurs when the bones don’t get enough calcium. Bones can break easily with osteoporosis (and osteopenia, a mild form of osteoporosis). Weakened bones can lead to skeletal abnormalities.

Diagnosis

Your doctor will examine you or your child and ask about your symptoms. Next, the healthcare provider uses a blood test to check for enzyme levels in people with Gaucher disease. Next, your doctor will do a DNA test to see if you are a carrier of Gaucher disease. As a carrier of Gaucher disease, you might not experience symptoms, yet you can still transmit the disease to your children. If you are a carrier and planning to have children, your doctor will refer you to a genetic counselor to help determine the best approach for your family.

Treatment

Regular therapy can help treat Gaucher disease type 1. Treatments can either increase the levels of enzymes in Gaucher disease or decrease the amount of fatty substances in the body. Treatment options for Gaucher disease type 1 vary based on the severity of the condition. Some people may need to take medication regularly to control their symptoms, while others may need to have surgery or other treatments.

Enzyme Replacement Therapy

People with Gaucher disease need to take enzyme replacement therapy (ERT) regularly (every two weeks) to maintain treatment effectiveness. Your doctor gives you an enzyme infusion intravenously (through a vein in your arm). You may receive infusions at an infusion centre, or they can be given at home if you are tolerating them well. ERT (enzyme replacement therapy) is a treatment that delivers a specific enzyme directly into your bloodstream. This enzyme can break down fats so they can’t accumulate and cause problems.

Substrate Reduction Therapy (SRT)

Substrate reduction therapy is a treatment that helps reduce fatty acids in the body, so they can’t accumulate and create harmful chemicals. You take SRT medication orally (by mouth). You should continue to take your medicine regularly to prevent damage to your body.

Complications

Gaucher disease can cause other health problems, such as:

1. Bone pain
2. Delayed growth
3. Delayed puberty
4. Extreme tiredness
5. Joint pain
6. Trouble walking
7. Not having enough healthy red blood cells (anaemia)
8. Weak bones

Prevention

Gaucher disease cannot be prevented if you carry the genetic mutation. However, genetic counseling is recommended if there is a family history of the disease. A genetic counselor can evaluate your risk of having the disease and provide information on the likelihood of passing it to your children.

For those at risk, such as siblings of affected individuals, early testing may help detect the disease early and guide treatment. If you’re a carrier and planning to start a family, speaking with a healthcare provider or genetic counselor can help you explore options to reduce the risk of passing the gene to your children.

When Should I See My Doctor?

If you or your child exhibits symptoms of Gaucher disease, it’s important to see a doctor for evaluation. Timely diagnosis and treatment can play a crucial role in effectively managing the condition.

You should also consult your healthcare provider if you experience symptoms like dizziness, fainting, seizures, trouble breathing, joint pain, loss of mobility, or unusual bone fractures. Additionally, if you notice that your current treatment is no longer controlling your symptoms, it’s crucial to seek medical advice.

If you have a family history of Gaucher disease or a child who has been diagnosed, it’s important to discuss testing options with your healthcare provider. It’s also recommended to notify your family members, as the condition can be hereditary.

Frequently Asked Questions