Gaucher (pronounced go-SHAY) disease is a genetic disorder whereby fat-laden cells build up in the spleen, liver and bone marrow. How do you know if you have the condition?
The National Gaucher Foundation explained the hereditary condition is “caused by low level of glucocerebrosidase”.
Glucocerebrosidase is an enzyme that is responsible for breaking down fatty chemicals in the body.
The fatty chemicals are known as glucocerebroside, which take residence in Gaucher cells.
Gaucher cells accumulate primarily in the spleen, liver and bone marrow – causing organ inflammation and dysfunction.
To be a carrier of the disease, it means you must have one single gene mutation associated with the disorder, but you won’t have any signs.
In order for a person to display symptoms of the condition, both of their parents must be carriers of the disease.
People with Gaucher disease may have a swollen belly “due to spleen and liver enlargement”.
This can be painful and interfere with the ability to eat a complete meal.
Another sign of the disease is suffering from anaemia (low blood counts) and fatigue.
As Gaucher cells accumulate in the bone marrow, it’s difficult for the body to produce normal blood cells.
This can result in fatigue and shortness of breath, as well as low platelet counts.
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Other symptoms of the condition include bone pain, easily fractured bones, bleeding and bruising issues.
Low platelet counts prevent normal blood clotting processes, so people with the condition may experience frequent nosebleeds, gum bleeding, and prolonged bleeding after dental work, for example.
Signs of the disease can vary from mild to severe, with most symptoms not appearing until adulthood.
The condition is also associated with an increased risk of certain cancers and Parkinson’s disease.
The most prevalent form of the disease, known as Gaucher disease type 1, treatment is available.
Options include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
ERT requires intravenous enzyme infusions, typically injected every two weeks.
SRT is oral medication that reduces the amount of glucocerebroside that the body makes.
Quick treatment is needed to reduce the risk of irreversible tissue and organ damage.
This also enables the person with the disease to live a full and active life.
Left untreated, the condition can shorten a person’s life, so medical attention is required.
Gaucher disease affects one in 40,000 people in the general population; as this disease is rare, seeing a specialist is recommended.
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