PREVALENCE
Although rare, Gaucher disease is the most common type of lysosomal storage disease.3 Type 1 is the most common form of Gaucher, with a higher prevalence in the Ashkenazi Jewish population.1,3
~ 1-9 IN 100,000
in overall population4
~ 1 IN 600
within the Ashkenazi Jewish population5,6
~ 1 IN 17
within the Ashkenazi Jewish population
are carriers of the disease7,8
Common Symptoms of Type 1 Gaucher Disease
Gaucher disease is a multi-systemic and progressive disease.1,3 Symptom onset can range from early childhood into late adulthood.9 Symptoms may vary from patient to patient.3
Low red blood cell count
(Low hemoglobin concentration)1
ANEMIA & FATIGUE1,3,10
Low platelet count1,3,10
BRUISING & BLEEDING1,3,10
Enlarged spleen1,3,10
Enlarged liver1,3,10
ABDOMINAL DISCOMFORT & PAIN1,3,10
Look out for a combination of
these symptoms for type 1 Gaucher disease.
If you suspect type 1 Gaucher disease, test now!
Accurate and timely diagnosis is important to the management of type 1
Gaucher disease.11
*Not an actual patient.
Diagnosis Challenges
The diagnosis of type 1 Gaucher disease often occurs several years after the first onset of clinical signs, and patients may experience diagnostic delays of up to 10 years.11,12 This could be due to several factors:
As a rare disease, the overall awareness of Gaucher disease is limited11
The clinical manifestations are highly heterogeneous, both in type and severity, presenting at a wide range of ages11,13
The earliest symptoms are general and non-specific so may be difficult to recognize13
Patients may be misdiagnosed and referred to multiple specialists before receiving an accurate diagnosis11,13
Delayed diagnosis can have serious medical consequences, including the development of potentially irreversible complications.11
Diagnosing Type 1 Gaucher Disease
Gaucher disease can be confirmed with:
β-glucosidase enzyme activity — the gold standard of diagnosing type 1 Gaucher disease. It is a blood test that measures levels of glucosidase activity10,11
Genetic testing — identify Gaucher disease-causing gene mutations and carrier status13,14
*Not an actual patient.
