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Gaucher type 1 (pronounced go-SHAY) is the most common form of the disease.
Patients with Gauche disease don’t have enough glucocerebrosidase (an enzyme that breaks down a fatty chemical in the body) When glucocerebroside builds up in the organs and bone marrow, it causes signs and symptoms such as: • Spleen and liver enlargement: Cells with excess glucocerebroside, called Gaucher cells, often accumulate in a patient’s spleen or/and liver. This process enlarges the organs, which can cause a painful, swollen belly and interfere with eating a complete meal.
• Low blood cells: Gaucher cells that accumulate in bone marrow and spleen make it hard for the body to produce blood cells normally and maintain normal blood cells. As a result, patients with Gaucher disease may have low red blood cell counts (anemia) that can cause fatigue and shortness of breath. They also typically have low platelet counts that can cause easy bruising and bleeding problems.
• Bleeding problems: Low platelet counts prevent normal blood clotting processes. Patients may experience frequent nosebleeds, gum bleeding, prolonged bleeding after dental work or other surgery. Sometimes, patients can have more serious gynecologic, urinary, gynecologic and brain bleeding issues, and bleeding after delivering a baby is common.
• Bone problems: Patients with Gaucher disease often have bone pain, which can be severe. Their bones may also break more easily, and without treatment, damage to bones can be permanent.
The symptoms can be different because enzyme deficiency varies from person to another, however, with treatment and proactive management they can live well to old age with excellent quality of life. And it can lower the risks of developing permanent damage.
Treatment for Gaucher disease type 1 is critical for minimizing symptoms and lasting damage to the body. Gaucher disease treatment includes enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
Enzyme replacement therapy (ERT) balances low levels of GCase enzyme in patients with Gaucher disease so their bodies can break down glucocerebroside.
ERT requires intravenous (IV) enzyme infusions, typically every 2 weeks or so.
Substrate reduction therapy (SRT) is a newer treatment that works differently than ERT.
SRT is oral medications that decrease the amount of glucocerebroside that the body makes, reducing excess buildup. Some patients find it more convenient than receiving ERT infusions.