Recognize Gaucher disease type 1 and understand the
consequences of
delayed diagnosis and treatment.
Gaucher disease is an inherited, autosomal recessive lifelong condition marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, as well as an unpredictable, progressive disease course.1,6 Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.7 It may also display inactive periods interrupted by episodes of acute crisis or evidence of disease advancement. Patients may appear to be asymptomatic, yet harbor disease manifestations such as cytopenia, splenomegaly, or osteopenia.1,2 Symptoms should not be ignored, as this progressive condition may lead to further medical complications.1
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
disease
progresses
Signs and symptoms
The signs and symptoms of Gaucher disease type 1 may not be obvious. The early signs and symptoms of Gaucher disease type 1 tend to reflect the hematologic aspects of the disease, but skeletal manifestations are often present.2
INCIDENCE OF MANIFESTATIONS IN UNTREATED GAUCHER DISEASE TYPE 18-10
Anemia 40%
Moderate to Severe Hepatomegaly 87%
Moderate to Severe Thrombocytopenia 50%
Moderate to Severe Splenomegaly 95%
Bone Disease:
Delayed Growth 34%
Cytopenias:
Hepatomegaly 79%
Lung manifestations 1% to 2%
Splenomegaly 87%
Bone Pathologies:
Splenomegaly and/or thrombocytopenia are among
the
2 most prominent and frequent presenting
symptoms
of Gaucher disease type 12,3
A delayed diagnosis can lead to further disease progression and multisystemic complications.1
Consequences of delayed diagnosis
When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease type 1 is progressive and over time may lead to1,2,11:
Early diagnosis and proper management remain important, as damage caused by Gaucher disease type 1 may be irreversible1,2
It takes only 1 simple blood test to make a diagnosis if you suspect Gaucher disease. Visit GaucherCare.com to learn more about the Gaucher enzyme test.
Suspect Gaucher disease? Test to know
Don’t miss a Gaucher disease diagnosis. Test to know. It’s just a simple blood-based enzyme assay (ß-glucosidase).2*
*The above algorithm is for the general population. Gaucher disease type 1 is more prevalent in individuals of Ashkenazi Jewish descent and should be investigated before hematologic malignancies.
When an ERT is needed, choose the longest-approved therapy
Learn moreCerezyme® (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:
Warnings and Precautions:
Hypersensitivity and Infusion-Associated Reactions: Hypersensitivity reactions, some of which are serious and include anaphylaxis have been reported. Hypersensitivity and other infusion-associated reactions have been reported during or shortly after infusion and include pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, cough, cyanosis, tachycardia, and hypotension. Patients with antibody to imiglucerase have a higher risk of hypersensitivity reactions. Not all patients with symptoms of hypersensitivity have detectable IgG antibody. Consider periodic monitoring during the first year of treatment for IgG antibody formation.
If a severe hypersensitivity reaction occurs, discontinue Cerezyme treatment and initiate appropriate medical treatment. Consider the risks and benefits of readministering Cerezyme to individual patients following a severe reaction. If Cerezyme is readministered, consider reducing the rate of infusion, pretreat with antihistamines and/or corticosteroids, and monitor patients for new signs and symptoms of a severe hypersensitivity reaction.
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.
Immunogenicity:
Approximately 15% of patients treated and tested to date have developed IgG antibody to
Cerezyme during the first year of therapy. Patients who developed IgG antibody did so
largely within 6 months of treatment and rarely developed
antibodies to Cerezyme after 12 months of therapy. Approximately 46% of patients with
detectable IgG antibodies experienced symptoms of hypersensitivity. Patients with
antibody to Cerezyme have higher risk of hypersensitivity
reaction.
Please see Full Prescribing Information (PDF).
To report SUSPECTED ADVERSE REACTIONS, contact Sanofi Medical Information at
1-800-745-4447, Option 2.