Recognize symptoms of Gaucher disease type 1 and understand the
consequences of delayed diagnosis.
Gaucher disease type 1 is a lifelong condition with diverse symptoms. The age of onset and disease severity of this progressive disease are unpredictable.
Symptoms are diverse,
unpredictable, and variable
Onset may occur at any age
Some patients may be asymptomatic, while others may experience one or more symptoms
The nature and severity of some symptoms may fluctuate as the disease progresses
Early diagnosis and timely management remain important, as damage caused by Gaucher disease type 1 may be irreversible
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 disease type 1 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.
| Children | |
|---|---|
| Organ (Visceral) Problems | |
| Enlarged spleen | 95% |
| Enlarged liver | 87% |
| Blood (Hematologic) Problems | |
| Low platelet count | 50% |
| Anemia | 40% |
| Growth delay | 34% |
| Bone Problems | |
| Radiological evidence | 81% |
| Bone pain | 27% |
| Bone crisis | 9% |
| Adults | |
|---|---|
| Organ (Visceral) Problems | |
| Enlarged spleen | 87% |
| Enlarged liver | 79% |
| Blood (Hematologic) Problems | |
| Anemia | 64% |
| Low platelet count | 56% |
| Bone Problems | |
| Bone pain | 63% |
| Osteopenia | 42% |
| Bone crisis | 33% |
| Avascular necrosis | 25% |
| Fracture | 15% |
Gaucher disease type 1 symptoms most often appear during childhood, but may also progress without obvious signs in people with more mild variants of the disease, which can cause irreversible damage if not diagnosed
people with Gaucher disease type 1 develop symptoms during childhood
are diagnosed before 10 years of age
are diagnosed between 11 and 20 years of age
A simple blood test can confirm a diagnosis of Gaucher disease. Genetic testing can also be done to additionally confirm a diagnosis, or to identify altered genes and carriers. Although carriers may not have the disease themselves, it’s important to identify them because Gaucher disease could be passed on. Learn more about testing resources at GaucherCare.com.
Suspect Gaucher disease? Talk to your doctor about getting tested. It's just a simple blood test.
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 treatment of adults and pediatric patients 2 years of age and older with Type 1 Gaucher disease that results in one or more of the following conditions:
Hypersensitivity and Infusion-Associated Reactions: Serious allergic reactions (anaphylaxis) have been reported in patients treated with Cerezyme. Symptoms suggestive of an allergic reaction have been reported during or shortly after an infusion and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), rapid heart rate, and low blood pressure. Inform your doctor and seek medical care if you experience any of these symptoms. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.
Immune Responses: 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.
Adverse Reactions:
Adverse reactions reported in adults include back pain, chills, dizziness, fatigue, headache, hypersensitivity reactions, nausea, pyrexia, and vomiting.
Adverse reactions reported in pediatric patients 2 years of age and older are similar to adults.
Please see the Full Prescribing Information.
To report SUSPECTED ADVERSE REACTIONS, contact Sanofi Medical Information at 1-800-745-4447, Option 2.