Gaucher disease type 1 is a rare, progressive, inherited condition thatcauses many different symptoms; however, it can be appropriately managed.
Gaucher (pronounced go-shay) disease is a rare, progressive, inherited, genetic condition that causes a fatty substance, called glucosylceramide (gloo-ko-sil-saramide, also called GL-1), to build up in certain organs or bones.
As GL-1 builds up, people with Gaucher disease type 1 may experience excessive bruising and bleeding, as well as a protruding abdomen caused by swelling of the liver and/or spleen.
More than 90% of Gaucher disease patients are type 1.
Gaucher disease type 1 can be effectively managed once a diagnosis is made.
The build up of GL-1 affects different systems throughout your body - primarily blood and organs like the liver, spleen, and bones.
A deficiency in red blood cells (called anemia), which may cause fatigue. Reduced blood clotting cells (called platelets), which makes it harder for your blood to clot and may cause bruising or bleeding
Enlarged liver and spleen, causing a distended or enlarged abdomen
Bone problems such as delayed growth (in children), bone weakness, bone pain, bone erosion, and the possibility of the eventual collapse of the bone itself
It is the accumulation of GL-1 that causes the signs and symptoms of the disease.
However, some patients may not show any symptoms at all despite their disease progressing.
Cerezyme® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:
Approximately 15% of patients have developed immune responses (antibodies) to Cerezyme during the first year of therapy. These patients have a higher risk of an allergic reaction (hypersensitivity). Your doctor may periodically test for the presence of antibodies. Serious allergic reactions (anaphylaxis) have been reported in less than 1% of patients. Symptoms suggestive of allergic reaction happened in approximately 7% of patients, and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.
High blood pressure in the arteries of the lungs (pulmonary hypertension) and pneumonia have been observed in less than 1% of patients during treatment with Cerezyme. These are also known complications of Gaucher disease regardless of treatment. If you experience symptoms such as shortness of breath or chest pain, with or without fever, contact your doctor.
Approximately 14% of patients have experienced side effects related to treatment with Cerezyme. Some of these reactions occur at the site of injection such as discomfort, itching, burning, swelling or uninfected abscess. Other side effects, each of which was reported by less than 2% of patients, include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Temporary swelling in the legs has also been observed with drugs like Cerezyme.
Please see Full Prescribing Information (PDF).