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Gaucher disease is a multi-systemic disease, with varied patient symptoms manifesting in different organs and progressing over time.1-4 The age of onset and the severity of symptoms can vary. The main clinical manifestations are presented below.

Spenomegaly symptoms in type 1 Gaucher patients

Splenomegaly5,6

Definition

Higher than spleen volume of an unaffected person (>0.2% body weight)7

Symptoms and prevalence

Early satiety, abdominal pain or distension. Occurs in 95% of patients1,8,9

Thrombocytopenia
Thrombocytopenia symptoms in type 1 Gaucher patients

Thrombocytopenia5,6

Definition

Lower than platelet count of an unaffected person (<150 x 109/L)6

Symptoms and prevalence

Bruising, nosebleeds, postoperative bleeding4,8

Anemia
Anemia symptoms in type 1 Gaucher patients

Anemia5,6

Definition

Lower than hemoglobin levels of an unaffected person (<140 g/L)6

Symptoms and prevalence

Fatigue.
Occurs in ~50% of patients8,9

Hepatomegaly
Hepatomegaly symptoms in type 1 Gaucher patients

Hepatomegaly5,6

Definition

Higher than the liver volume of an unaffected person (>2.5% body weight)7

Symptoms and prevalence

Early satiety, abdominal pain. Occurs in 80% of patients1,4,9

Skeletal manifestations
Skeletal symptoms in type 1 Gaucher patients

Skeletal manifestations1

Symptoms and prevalence

Abnormal bone shaping, bone pain, bone infections, fractures. Occurs in 70-100% of patients1

Diagnosis &
Testing

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Monitoring &
Management

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