Important Safety Information: Certain patients should not use CERDELGA based on their CYP2D6 metabolizer status due to an increased risk of side effects, including heart problems. Do not use CERDELGA if you are an Extensive Metabolizer (EM) taking a medicine that is a strong or moderate CYP2D6 inhibitor along with another medicine that is a strong or... View more

Symptoms, Diagnosis & Testing

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

Nate, USA,
patient with Gaucher disease type 1 treated with Cerdelga

Recognizing the symptoms of Gaucher disease

Gaucher disease is a lifelong condition with diverse symptoms. The age of onset and disease severity due to the progressive disease course are unpredictable.

SYMPTOMS ARE DIVERSE, unpredictable, AND VARIABLE

Onset may occur at any age

Onset may occur at any age

Some patients may be asymptomatic

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

Nature and severity of some symptoms may fluctuate as disease progresses

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

Gaucher disease type 1 can be effectively managed once a diagnosis is made

Signs and symptoms of Gaucher disease

Symptoms can mimic other diseases, and many people are misdiagnosed or assume they were tested.
Make sure to talk to your doctor if you are experiencing any of the signs or symptoms listed below.

Enlarged spleen and liver

Organs

Enlarged spleen (splenomegaly) and liver (hepatomegaly)

Bone pain and bone crisis

Bones

Bone pain and bone crisis
Bone infarction or avascular necrosis (AVN)
Osteopenia and osteoporosis
Spontaneous fractures
Joint pain, arthritis and joint damage

Blood and lungs

Blood and Lungs

Low platelet count
Easy bruising and bleeding
Anemia
Fatigue
Breathing (respiratory) problems

Consequences of misdiagnosis or delayed diagnosis

When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease is progressive and over time may lead to:

  • Bleeding
  • Enlarged spleen (splenomegaly) and liver (hepatomegaly) 
  • Slower growth in children
  • Inflammation throughout the body
  • Reduced quality of life
  • Shorter life span and an increased
    risk of cancer

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

Testing for Gaucher disease

A simple test can confirm a diagnosis of Gaucher disease

A simple blood test can confirm a diagnosis of Gaucher disease. Genetic testing can also be done to additionally confirm a diagnosis, to identify altered genes and carriers. 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.