Recognize symptoms of Gaucher disease and understand the
consequences of delayed diagnosis.
Symptoms can mimic other diseases, and many people are misdiagnosed. Make sure to talk to your doctor if you are experiencing any of the signs or symptoms listed below.
Even if you are asymptomatic or have very mild symptoms, it is important to manage your disease as Gaucher can progress without noticeable signs
Avascular necrosis is the death of bone tissue due to a lack of blood supply. Osteopenia means bone loss leading to weak bones that are more likely to break. Osteoporosis indicates more severe bone loss than osteopenia and a higher risk of broken bones.
people with Gaucher disease type 1 developsymptoms during childhood
are diagnosed before 10 years of age
are diagnosed between 11 and 20years of age
A little girl Gigi was diagnosed with Gaucher disease type 1. In her story, children learn how Gigi felt before she was diagnosed and also what treatment is like for her.
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).