Symptoms, Diagnosis, & Testing
Recognizing Gaucher disease and understanding 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 Symptoms should not be ignored, as this progressive condition may lead to further medical complications.1
SYMPTOMS ARE DIVERSE, UNPREDICTABLE, AND VARIABLE1,6,7
Signs and symptomsThe signs and symptoms of Gaucher disease 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
Consequences Of Delayed Diagnosis and Treatment
When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years.1Gaucher disease is progressive and over time may lead to1,2,8:
Suspect Gaucher Disease? Test to Know