Gaucher disease type 1, a lipid metabolism disorder, is the most common type form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase is made. For reference, glucocerebrosidase is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver, and bone marrow. This could then cause the liver and spleen to become enlarged, resulting in bone disease and, sometimes, lung and kidney problems. It does not affect the brain, as seen in type 2 and type 3 Gaucher disease. While there is no cure, type 1 can be effectively treated with enzyme replacement therapy (ERT).
Gastrointestinal Side Effects
Miglustat inhibits intestinal disaccharidases, mainly sucrase-isomaltose, which leads to reduced absorption of dietary disaccharides. These disaccharides in the intestines can lead to diarrhea, gas, bloating, abdominal pain or discomfort, nausea, and vomiting. Symptoms are typically mild or moderate and usually subside after taking the drug for approximately three months. Patients can help minimize these side effects by reducing dietary carbohydrates (disaccharides) in their daily diet.
Reduce Dietary Carbohydrates
Patients should consider reducing dietary carbohydrates three days before starting on Miglustat therapy and continue this regimen throughout their therapy duration. Meals should contain less than five grams of carbohydrates. The main dietary carbohydrates are sucrose (glucose-fructose), maltose (glucose-glucose), and to a lesser extent, lactose (glucose-galactose). Examples of foods that contain carbohydrates include:
• Sucrose – Sweet-tasting foods such as fruits and added sugars
• Maltose – Starchy foods such as grains, potatoes, beans, and legumes
• Lactose – Dairy products, such as milk, cheese, ice cream, and yogurt
Suggested Patient Counseling Points
• Do not take Miglustat with meals, preferably two hours before or after a meal to lessen gastrointestinal side effects
• Ensure patients are meeting dietary calcium and vitamin D requirements
• Lactose-free dairy and milk alternatives (e.g., soy) can be used if there is no added sugar (sucrose)
• Artificial sweeteners can be used sparingly, however excessive use may also cause diarrhea
• Antidiarrheals such as loperamide are available to treat diarrhea
Orsini Specialty Pharmacy currently supports five treatment options for patients with Gaucher disease 1. One of those treatments is Miglustat. You can learn more about how our team supports patients with Gaucher disease. If you’re interested, you can also access the downloadable PDF with dietary guidelines for patients taking Miglustat. We invite you to connect with an Orsini Specialty Pharmacy representative to learn more about how we partner with manufacturers, providers, and payors to help support patients.