MONITORING & MANAGEMENT
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This glossary explains terms that you may see when researching and learning more about Gaucher disease.
Anemia
When a person has too few red blood cells. People with Gaucher disease may feel very tired or weak because of this
Autosomal recessive
A way that a disease can be passed down in families. Everyone gets two copies of a gene, one from each parent. A person has the disease only if both copies of the gene are changed. Gaucher disease is passed down this way
Avascular necrosis
When blood cannot reach a part of the bone, and the bone dies. This can happen in people with Gaucher disease
Biomarker
A sign in the body that shows how serious a disease is or if it is getting worse. People with Gaucher disease may be tested for biomarkers
Bone crises
Times when the bones hurt a lot. People with Gaucher disease may have this because of problems with blood flow or bone tissue
Bone infarction
When bone tissue dies. People with type 1 Gaucher disease may have this
Bone marrow
Soft tissue inside your bones. In people with type 1 Gaucher disease, the bone marrow can be affected
Carrier
A person who has a changed gene for a disease but does not have the disease themselves. Carriers can pass the changed gene to their children. People can be carriers of Gaucher disease
Enzyme
A protein in the body that speeds up chemical reactions. In Gaucher disease, an enzyme is missing or doesn’t work as well
Enzyme replacement therapy (ERT)
A treatment where a medicine is given through a drip into your blood. This medicine works by replacing the missing enzyme people with type 1 Gaucher disease need
Fatigue
Feeling very tired and having no energy. People with type 1 Gaucher disease may feel this because of low levels of red blood cells
Gaucher cell
A cell that swells because fatty substances build up inside it. People with type 1 Gaucher disease have these cells
Gene
A tiny part of your body’s instructions passed from parent to child. Genes tell your body how to grow and work
Genetic condition
A condition caused by changes in genes. These changes can be passed down from parents to their children
Glucocerebrosidase
The enzyme that is missing or not working well in people with Gaucher disease
Glucocerebroside
The fatty substance that builds up in cells of people with Gaucher disease
Glycolipid
A fat that is attached to a sugar. The fatty substance that builds up in the cells of people with Gaucher disease is a glycolipid
Hematological
Relating to the blood. People with Gaucher disease may have blood symptoms
Hepatomegaly
A larger liver. People with Gaucher disease may have this
Heterogeneity
When a disease can look very different in different people. Gaucher disease can cause many different symptoms
Heterogeneous
When a disease shows up in very different ways. Gaucher disease is like this
Infusion
A way of putting a medicine into a person’s blood
Lipid
A type of fat. Glucocerebroside, which builds up in the cells of people with Gaucher disease, is a lipid
Liver
An organ in the upper right side of your belly. Your liver cleans your blood and helps you digest food. In Gaucher disease, it can get bigger
Lysosomal storage disorder
A group of diseases where waste builds up inside cells. Gaucher disease is one of these
Lysosome
A small part inside a cell that breaks down waste. In Gaucher disease, waste cannot be broken down and builds up in the lysosome
Multidisciplinary
When different health workers work together as a team. Gaucher disease is cared for by a team of specialists
Multisystemic
When a disease affects many parts of the body. Gaucher disease can affect many organs
Occupational therapy
Helps people do daily activities more easily and by themselves. It may include simple exercises, tips, and changes to daily routines
Osteopenia
When bones are weaker and have fewer minerals than they should
Osteoporosis
When bones become thin and weak. People with Gaucher disease may have this
Platelets
Blood cells that help stop bleeding. People with Gaucher disease may have too few of these cells
Physical therapy
Uses exercises, massage, and other treatments like heat or cold. These help with pain, movement, and weak muscles
Progressive
When a disease gets worse over time. Gaucher disease may worsen over time
Splenomegaly
A larger spleen. People with Gaucher disease may have this
Spleen
An organ near the stomach that helps clean the blood and fight infections. In Gaucher disease, the spleen can get bigger and cause discomfort
Substrate
A substance an enzyme works on. In Gaucher disease, an enzyme is missing, so a fatty substance builds up
Substrate reduction therapy (SRT)
A treatment that helps stop people with type 1 Gaucher disease making too much of a fatty substance. It is a medicine taken by mouth
Thrombocytopenia
Low levels of blood clotting cells known as platelets. This can cause easy bruising or bleeding in people with Gaucher disease
Viscera
The soft organs inside the body, like the liver and spleen. People with Gaucher disease may have problems with these organs
Visceral
About the soft organs inside the body, like the liver and spleen. People with Gaucher disease may have symptoms in these organs
If you have type 1 Gaucher disease, know that it can worsen over time – even if you are well. Talk to your doctor about any concerns or questions you may have. Attend all of your check-ups for tests and scans.
