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IMPORTANT SAFETY INFORMATION: 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... View more

Symptoms in Children and Adults

Recognize symptoms of Gaucher disease and understand the consequences of delayed diagnosis.

Recognizing the symptoms of Gaucher disease

Gaucher disease 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

Onset may occur at any age

Signs and symptoms

Some patients may be asymptomatic while others may experience one or more symptoms

Some symptoms may fluctuate as the disease progresses

The nature and severity of some symptoms may fluctuate as the disease progresses

Early diagnosis and timely treatment remain important, as damage cased by Gaucher disease may be irreversible

Signs and symptoms of Gaucher disease

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.

Blood and lung problems

Blood and lung problems

  • Fatigue caused by anemia, which results from a lack of red blood cells
  • Easy bruising and bleeding
  • Breathing (respiratory) problems
Organ problems

Organ problems

  • Enlarged spleen (splenomegaly) and liver (hepatomegaly)
Bone problems

Bone problems

  • Bone pain, which can be mild or severe (bone crisis)
  • Death of bone tissue (bone infarction or avascular necrosis)
  • Loss of bone mass and bone weakness that can lead to brittle bones (osteopenia and osteoporosis)
  • Spontaneous fractures
  • Joint pain, arthritis, and joint damage

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.

Frequency of Gaucher symptoms in children and adults

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 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

~2 in 3

people with Gaucher disease type 1 develop symptoms during childhood

49%

are diagnosed before 10 years of age

17%

are diagnosed between 11 and 20 years of age

Testing for Gaucher disease

Testing for Gaucher disease

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.

Read your child story about Gigi and Gaucher disease

Read your child a story about Gigi and Gaucher Disease

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.

Gaucher disease is passed down in families

Inheriting Gaucher

Gaucher disease is passed down in families

Find out how
Get tested

Treatment options

Gaucher disease type 1 is manageable

Learn more

Indication & Usage

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:

  • anemia (low red blood cell count)
  • thrombocytopenia (low blood platelet count)
  • bone disease
  • hepatomegaly or splenomegaly (enlarged liver or spleen)

Important Safety Information

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).