Gaucher disease is an inherited condition that runs in families which is a lysosomal storage disorder that causes fatty substances to build up in the bone marrow, liver, and spleen. Fat weakens bones and enlarges organs, so they can’t function as they should. There is no cure for Gaucher disease, but treatment can relieve symptoms and greatly improve quality of life. This disease is very rare.
It continues to damage the nervous system in patients diagnosed with Krabbe disease. It is a rare and often fatal lysosomal storage disease that causes progressive damage to the nervous system.
Causes of Gaucher disease
This disease is an inherited metabolic disorder. Gaucher’s disease runs through the family. People with this disease do not have enough of an enzyme called glucocerebrosidase (GCase). Enzymes such as GCase are proteins that perform a variety of functions, including breaking down body fat (sphingolipids).
If the body does not have enough of these enzymes, fatty chemicals (called Gaucher cells) build up in the organs, bone marrow, and brain. Excess fat causes various problems and symptoms. It affects how organs work, and they destroy blood cells and weaken bones.
Gaucher disease Symptoms vary from person to person. Some people with this disease have mild symptoms or none at all. In other people, the symptoms can lead to serious health problems and death. Symptoms of the three forms of the disease include:
- Anemia: As lipids build up in the bone marrow, they destroy red blood cells. Red blood cells carry oxygen throughout the human body and when the human body has too few red blood cells, it is called anemia.
- Enlarged organs: Spleen and liver enlarge as fatty chemicals build up, causing a large and tender belly. An enlarged spleen destroys platelets, which are blood cells that help blood clot, leading to low platelet counts and bleeding problems.
- Bruising, bleeding, and clotting problems: A low platelet count makes people with Gaucher disease bruise easily. In that case, blood does not clot as well as it should. They are also prone to heavy or prolonged bleeding after minor trauma, surgery, or nosebleeds.
- Fatigue: As a result of anemia, people with Gaucher disease often experience fatigue or feel tired all the time.
Also, some Gaucher disease Symptoms affect bones such as problems: when bones do not get the blood, oxygen, and nutrients they need, they become weak and break. People with this disease may have symptoms in the bones and joints including:
- Joint Pain: This decreased blood flow causes pain in the bones. Arthritis, joint pain, and joint damage are common symptoms of Gaucher disease.
- Osteonecrosis: This condition is also known as avascular necrosis. Without enough oxygen, bone tissue breaks down into smaller pieces and dies.
- Bones break easily: This disease causes osteoporosis, a condition that occurs when bones don’t get enough calcium.
In addition to blood, organ, and bone symptoms, Gaucher disease causes neurological (brain) problems. Babies develop these symptoms within the first six months of life. They may have skin abnormalities at birth. But be aware, that a Gaucher disease diagnosis can be overwhelming.
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