What is Gaucher disease?
Gaucher disease is an inherited condition (passed down through families). It is a lysosomal storage disorder, a type of disease that causes fatty substances to build up in the bone marrow, liver and spleen. The fatty substances (sphingolipids) weaken bones and enlarge the organs, so they can’t work like they should. There is no cure for Gaucher disease, but treatments can relieve symptoms and greatly improve quality of life.
What are the types of Gaucher disease?
There are three types of Gaucher disease (pronounced go-shay). All cause similar symptoms in the organs and bones. Some forms of the disease also affect the brain. The types of Gaucher disease are:
- Gaucher disease type 1: The most common type in the U.S., Gaucher disease type 1 affects the spleen, liver, blood and bones. It does not affect the brain or spinal cord. Gaucher disease type 1 is treatable, but there is no cure. For some people, symptoms are mild. Other people experience severe bruising, fatigue and pain, especially in the bones and belly. Symptoms can appear at any age, from childhood to adulthood.
- Gaucher disease type 2: A rare form of the disorder, type 2 appears in babies under six months old. It causes an enlarged spleen, movement problems and severe brain damage. There is no treatment for Gaucher disease type 2. Babies with this condition pass away within two to three years.
- Gaucher disease type 3: Worldwide, Gaucher disease type 3 is the most common form, but it’s rare in the United States. It appears before age 10 and causes bone and organ abnormalities and neurological (brain) problems. Treatments can help many people with Gaucher disease type 3 live into their 20s or 30s.
How common is Gaucher disease?
Gaucher disease is rare. About 6,000 people in the United States have the disorder. Gaucher disease type 1 is the most common form in the United States. Around 95% of people with Gaucher disease in the U.S. have type 1.
Who is likely to get Gaucher disease?
Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) ancestry are more likely to have Gaucher disease type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
Ancestry does not play a role in who gets Gaucher disease types 2 and 3. The disorder affects people of all ethnicities.
What causes Gaucher disease?
Gaucher disease is an inherited metabolic disorder. It’s passed down through families. People with Gaucher disease don’t have enough of an enzyme called glucocerebrosidase (GCase). Enzymes like GCase are proteins that perform several tasks, including breaking down fats (sphingolipids) in the body.
If the body doesn’t have enough of these enzymes, fatty chemicals (called Gaucher cells) build up in the organs, bone marrow and brain. The excess fats cause a wide range of problems and symptoms. They affect how the organs work, and they destroy blood cells and weaken bones.
What are the symptoms of Gaucher disease?
Symptoms of Gaucher disease vary from person to person. Some people with Gaucher disease have mild symptoms or none at all. In other people, symptoms can lead to serious health problems and death. Signs of all three forms of Gaucher disease include:
Problems affecting the organs and blood: As fatty chemicals build up in the body, people with Gaucher disease may experience a range of symptoms in the blood and organs. Sometimes the skin develops brown pigmented spots. Symptoms range from mild to severe and include:
- Anemia: As lipids build up in bone marrow, they destroy red blood cells. Red blood cells carry oxygen throughout the body. Having too few red blood cells is called anemia.
- Enlarged organs: The spleen and liver get bigger as fatty chemicals build up, which causes the belly to become enlarged and tender. The enlarged spleen destroys platelets (blood cells that help blood clot), leading to a low platelet count and bleeding problems.
- Bruising, bleeding and clotting issues: A low platelet count causes people with Gaucher disease to bruise easily. Their blood doesn’t clot like it should. They are at risk of heavy or prolonged bleeding, even after minor injuries, surgery or nosebleeds.
- Fatigue: As a result of anemia, people with Gaucher disease often experience fatigue (feeling tired all the time).
- Lung problems: Fatty chemicals accumulate in the lungs and make it difficult to breathe.
Problems affecting the bones: When bones don’t get the blood, oxygen and nutrients they need, they weaken and break down. People with Gaucher disease may have symptoms in the bones and joints, including:
- Pain: Decreased blood flow causes pain in the bones. Arthritis, joint pain and joint damage are common signs of Gaucher disease.
- Osteonecrosis: This condition, also known as avascular necrosis, results from a lack of oxygen reaching the bones. Without enough oxygen, bone tissue fractures into tiny pieces and dies.
- Bones that fracture easily: Gaucher disease causes osteoporosis, a condition that occurs when the bones don’t get enough calcium. With osteoporosis (and osteopenia, a mild form of osteoporosis), bones can break easily. Weakened bones can lead to skeletal abnormalities.
Problems affecting the brain and brain stem: In addition to blood, organ and bone symptoms, Gaucher disease types 2 and 3 also cause neurological (brain) problems. Infants with Gaucher disease type 2 develop these symptoms within the first six months of life. They may have skin abnormalities at birth. Symptoms of Gaucher disease type 3 appear by age 10 and become more severe over time.
Neurological symptoms of Gaucher disease types 2 and 3 include:
- Feeding challenges and developmental delays (in babies with Gaucher disease type 2).
- Cognitive difficulties.
- Eye problems, specifically when moving the eyes side to side.
- Problems with gross motor skills and coordination.
- Seizures, muscle spasms and quick, jerky movements.