Gaucher Disease

What is Gaucher’s Disease?

A hereditary disorder is Gaucher disease. It is a lysosomal storage disorder, a condition where fat deposits accumulate in the spleen, liver, and bone marrow. The fatty compounds (Sphingolipids) weaken bones and expand the organs, making it difficult for them to function properly. Although there is no known therapy for Gaucher disease, it is possible to significantly enhance the quality of life through symptom relief.

What are the Types of Gaucher Disease?

The Gaucher (pronounced go-shay) illness comes in three different forms. Symptoms in the bones and organs are comparable due to all of them. A few disease variants also have an impact on the brain. The many forms of Gaucher illness include:

Gaucher disease type 1

Gaucher disease type 1 is the most prevalent kind in the US and affects the spleen, liver, blood, and bones. The brain and spinal cord are unaffected. There is no known cure for Gaucher disease type 1, yet it is treated. Symptoms might be minor for some people. Some individuals also endure significant bruises, exhaustion, and discomfort, particularly in the stomach and bones. From childhood through maturity, symptoms might manifest at any age.

Gaucher disease type 2

Type 2 of the condition, an uncommon variant, affects infants younger than six months. Along with serious brain damage, it results in an enlarged spleen and mobility issues. Type 2 of the Gaucher illness has no known cure. Within two to three years, infants with this disease perish.

Gaucher disease type 3

The most prevalent form of Gaucher disease is type 3.  However, it is uncommon in the United States. It first manifests before the age of ten and leads to neurological (brain) issues as well as bone and organ abnormalities. Many persons with Gaucher disease type 3 can live into their 20s or 30s with the use of treatments.

How Common is this Condition?

Gaucher disease is quite uncommon. In the US, 6,000 people suffer from the condition. The most prevalent form of this condition in the US is type 1. In the United States, type 1 Gaucher disease affects around 95% of cases.

Who is Prone to Gaultier Disease?

Anyone can have the condition, however, those of Ashkenazi Jewish (Eastern European) origin are more likely to have Gaucher disease type 1. Nearly 1 in 450 persons of Ashkenazi (or Ashkenazic) Jewish heritage have the ailment, and 1 in 10 are carriers of the gene mutation that causes Gaucher disease.

What Causes this Disease?

Gaucher disease is an inherited metabolic disorder. It’s passed down in the family. Glucocerebrosidase is an enzyme that people with Gaucher disease lack in sufficient amounts. Enzymes like GCase are proteins that perform multiple jobs, including breaking down fats in the body. When the body doesn’t have enough of these enzymes, fatty chemicals accumulate in the organs, bone marrow, and brain. Excess fat causes a variety of problems and symptoms. They affect organ function, destroy blood cells, and weaken bones.

What are the Symptoms of Gaucher Disease?

Gaucher’s disease symptoms differ from person to person. Some patients with this condition may have minor symptoms or none at all. Other people’s symptoms may result in critical health issues and even death. All three types of Gaucher illness have the same symptoms:

Organ and Blood Systemic Issues

People who have Gaucher disease could encounter a variety of symptoms in their organs and blood as fatty substances accumulate in their bodies. Brown pigmented patches can occasionally appear on the skin. Mild to severe symptoms range in intensity and include:

• Anemia: When fat builds up, it destroys red blood cells in the bone marrow. Red blood cell deficiency is referred to as anemia.
• Enlarged organs: As fatty molecules accumulate, the spleen and liver expand, resulting in an enlarged and painful abdomen. Low platelet counts and bleeding issues result from the larger spleen’s destruction of platelets, which are blood cells that aid in blood clotting.
• Bruising, bleeding, and clotting issues: People with this disease bruise readily due to a low platelet count. Their blood does not clot properly. Even after minor injuries, surgery, or nosebleeds, they are susceptible to excessive or protracted bleeding.
• Weariness: People with Gaucher disease frequently develop fatigue as a result of anemia (feeling tired all the time).
• Lung issues: Fatty substances build up in the lungs and make breathing harder.

Those who have this Condition May have the Following Joint and Bone Symptoms:

• Bone issues: Without the blood, oxygen, and nutrition they require, bones become brittle and degenerate. Those who have Gaucher disease may have the following joint and bone symptoms:
• Pain: Insufficient blood supply hurts the bones. The most typical symptoms of Gaucher disease include arthritis, joint discomfort, and joint degeneration.
• Osteonecrosis: A lack of oxygen getting to the bones causes this disorder, also known as avascular necrosis. Bone tissue dies and breaks up into small fragments in the absence of sufficient oxygen.
• Bones that fracture easily: Gaucher disease causes osteoporosis, a condition that occurs when bones do not get enough calcium. Osteoporosis (and osteopenia, a mild form of osteoporosis) can easily break bones. Weakened bones can lead to skeletal abnormalities.
• Problems Affecting the Brain and Brainstem: In addition to blood, organ, and bone symptoms, Gaucher disease types 2 and 3 also cause neurological (brain) problems. Infants with type 2 Gaucher disease develop these symptoms within the first six months of life. You may be born with skin abnormalities. Symptoms of type 3 Gaucher disease began around the age of 10 and became more severe over time.

Neurological Symptoms of Gaucher Disease Types 2 and 3 Include:

• Babies with Gaucher disease type 2 experience difficulties with feeding and developmental impairments.
• Cognitive challenges
• Issues with the eyes, particularly when shifting them side to side.
• Coordination and gross motor skill issues.
• Seizures, spasms of the muscles, and jerky, rapid movements.

How is Gaucher’s Disease Diagnosed?

After examining you and your child, our doctor will inquire about the symptoms. Using a blood test to measure enzyme levels, medical professionals can identify this condition. Our doctor will conduct a DNA test on your saliva or blood to see if you carry the Gaucher disease gene. Although carriers of the disease have no symptoms, they can nevertheless pass the illness on to their offspring. Your physician will recommend a genetic counselor if you are a carrier and thinking about starting a family so you can make a plan for your genetic future.

Can Gaucher Disease be Treated?

Gaucher type 1 illness is curable with consistent treatment. Treatments either raise enzyme levels or lower the amount of fatty material that accumulates in the body as a result of this condition. The neurological damage caused by Gaucher disease types 2 and 3 is incurable. Treatment options for type 1 Gaucher disease include:

Enzyme replacement therapy (ERT): Patients with Gaucher disease should undergo ERT on a regular basis (every two weeks) for treatment to be effective. Your doctor will inject the enzyme into your vein (through a vein in your arm).

Substrate reduction therapy (SRT): This treatment reduces fat chemicals and prevents them from accumulating in the body. Take the SRT medicine by mouth. To avoid harm to the body, it is necessary to continue to take the medicine regularly. Ask your provider if SRT is right for you.  For educational and information purposes, please note that researchers are actively developing several new treatments using genetic engineering and stem cell technology. If and when these treatments are officially approved by the FDA, we will study the results and see if they can be used for your child.

Can I Prevent Gaucher Disease?

There is no way to prevent Gaucher disease if you have the gene mutation. If you are at risk, we recommend that you get tested. Early treatment can prevent type 1 Gaucher disease from damaging bones and organs.  If a DNA test shows that you are a carrier of this disease and plan to start a family, we want you to talk with us to learn more about the condition. A genetic counselor can provide more information and can help reduce the chances of genes being passed on.

What to Expect

Everyone’s illness is different, so you’ll need to work with our doctor to make sure you’re getting the FDA approved and correct treatment, which can help you or your child feel better and possibly live longer. We encourage patients and their parents to not only get treated by us, but to also to stay informed for educational and information purposes of new FDA approved medicines or treatments that are being introduced.  Our doctors will be looking too, and they can tell you if any of these new medicines or treatments are right for you. 

Patients with this condition may not go through puberty on time, and they may not grow as fast as other children. Depending on the symptoms, patients with this condition may need to avoid contact sports or limit their sporting activities. Some people with the condition experience severe pain and fatigue; so it may take an extra effort to become active. However, small things can make a big difference. For example, a wheelchair or crutches can help if walking is difficult. Napping is also effective. If the symptoms are severe, regular assistance may be required and it may become difficult to live on one’s own.

This is one of the many conditions that are basically unknown to doctors who are not pediatric orthopedic specialists.  We treat this condition and welcome new patients.