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
Gaucher disease is a lifelong condition with diverse symptoms. The age of onset and disease severity due to the progressive disease course are unpredictable.
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
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 (splenomegaly) and liver (hepatomegaly)
Bone pain and bone crisis
Bone infarction or avascular necrosis (AVN)
Osteopenia and osteoporosis
Spontaneous fractures
Joint pain, arthritis and joint damage
Low platelet count
Easy bruising and bleeding
Anemia
Fatigue
Breathing (respiratory) problems
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:
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.
