Type 1 Gaucher’s Disease Treatments

From Enzyme Replacement Therapy to Medications: What Works for Type 1 Gaucher’s Disease?

Type 1 Gaucher’s disease is an inherited metabolic disease that may cause you to experience an array of symptoms, from bone fractures to easier bruising, due to the inability to break down excessive fatty substances in your body.  Because type 1 is the mildest form of the disease, you may find that your symptoms are so mild, your doctor may not even recommend any treatment.

However, there are several highly effective treatment options available for type 1 Gaucher’s disease, and your doctor will be able to tell you which course of treatment may be best for you.

Enzyme Replacement Therapy for Type 1 Gaucher’s Disease
Since the disease is caused by a genetic mutation responsible for your body not having enough of the enzyme glucocerebrosidase, which your body needs in order to break down glucocerebroside (a fatty substance), enzyme replacement therapy (ERT) will replace your deficient enzymes with artificial ones. This will help your body more easily process the fatty materials, called “lipids,” so they don’t accumulate to dangerous levels.

The standard ERT procedure involves:

  • intravenous injections (through a vein, also known as “IV”)
  • outpatient visits, meaning you don’t have to have any surgery and your treatment will be finished that day
  • high-dose infusions administered once every 2 weeks
  • may include prolonged treatment, over 2 to 4 years, but this will depend on the severity of your symptoms; your doctor will be able to tell you how long you can expect to have the treatment
  • careful monitoring by your doctor, as some people may experience sensitive or allergic reactions

ERT can reverse symptoms of type 1 Gaucher’s disease, such as decreasing the size of a swollen liver or spleen, reducing bone pain, and can also reverse abnormal blood cell counts if your red blood cells are too low.

Oral Medications for Type 1 Gaucher’s Disease
Miglustat is an oral tablet called an enzyme inhibitor, which is FDA approved and indicated for people with type 1 Gaucher’s disease.

The drug works by blocking the production of glucocerebrosides, which are the fatty substances that, when they build up, cause the symptoms associated with type 1 Gaucher’s disease. The goal of this drug is to decrease the amount of glucocerebrosides in your body. This type of therapy is called substrate reduction therapy. As with all medications, miglustat does have some side effects such as diarrhea and weight loss, so your doctor will want to monitor you during your treatment.

Surgery: A Treatment Option for Some Symptoms of Type 1 Gaucher’s Disease
There are several types of surgeries available that your doctor may recommend if you have severe symptoms. They include:

  • bone marrow transfusion/transplantation:  replaces destroyed or damaged blood-forming cells (this is only recommended in severe cases of type 1 Gaucher’s disease and is rarely performed)
  • blood transfusion: a common, safe procedure where blood is given to you through an IV inserted into a blood vessel and can help if your body isn’t producing enough healthy red blood cells (a condition also known as “anemia”)
  • joint replacement surgery:  may be recommended, as it can improve your ability to move around if your joints have been affected by type 1 Gaucher’s disease
  • spleen removal surgery:  rarely performed, but may be required if the swelling is too severe

Once your doctor has diagnosed you with type 1 Gaucher’s disease, he or she will be able to go over all of the available treatment options that may be best for you.


Updated on: 10/15/12