RECOGNIZING
TYPE 1 GAUCHER DISEASE

Female patient

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, affecting1,3:

~1–9 IN 100,000

within the overall population4

~1 IN 600

within the Ashkenazi Jewish population5–7

~1 IN 17

within the Ashkenazi Jewish community that are carriers8

COMMON SIGNS & 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 Signs and symptoms may vary from patient to patient.3 It is important to be aware of the possible combinations of signs and symptoms, as this can help lead to earlier diagnosis.

LOW HEMOGLOBIN CONCENTRATION1

Hemoglobin

ANEMIA &
FATIGUE1,3,10

LOW PLATELET COUNT1,3,10

Platelets

BRUISING &
BLEEDING1,3,10

ENLARGED
SPLEEN1,3,10

Damaged Spleen

ENLARGED
LIVER1,3,10

Liver

ABDOMINAL DISTENSION &
DISCOMFORT1,3,10

A combination of these signs and symptoms may be indicative of type 1 Gaucher disease.
If you suspect type 1 Gaucher disease, test now.

DIAGNOSTIC CHALLENGES

Male Patient

Accurate and timely diagnosis is important for the management of type 1 Gaucher disease.11

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.12,13 This could be due to several factors:

  • As a rare disease, the overall awareness of Gaucher disease is limited13
  • The clinical manifestations are highly heterogeneous, both in type and severity, presenting at a wide range of ages13,14
  • The earliest symptoms are general and non-specific so may be difficult to recognize14
  • Patients may be misdiagnosed and referred to multiple specialists before receiving an accurate diagnosis13,14
Male patient

Delayed diagnosis can have serious medical consequences, including the development of potentially irreversible complications.14

TESTING FOR TYPE 1 GAUCHER DISEASE

Type 1 Gaucher disease can be confirmed with:

  • β-Glucosidase enzyme assay — the gold standard of diagnosing type 1 Gaucher disease is a blood test that measures levels of glucosidase activity10,14
  • Genetic testing — identifies Gaucher disease-causing gene mutations and carrier status5,13
VPRIV HCP Brochure

Summary of VPRIV, an ERT for type 1 Gaucher disease

How ERT Works
How ERT Works & VPRIV MOA
VPRIV Clinical Program Overview
VPRIV Clinical Program Overview