Table 2.

Laboratory investigations in Gaucher disease

Laboratory investigation	Basis	Advantages	Disadvantages
Angiotensin-converting enzyme	Increased in the plasma of affected patients	Decreases with treatment	Nonspecific
Beta-glucocerebrosidase activity assay	Direct assessment of enzyme responsible for disease	Gold standard test Elevated in active disease	Expense
Bone marrow aspirate	Visualization of Gaucher cells in marrow	Identification of alternative or concomitant disease entities with similar presentations (e.g., hematologic malignancy)	Not routinely recommended if Gaucher diagnosis is highly suspected Nonspecific (pseudo-Gaucher cells) Discomfort Expense
CCL18	Produced by Gaucher cells as macrophage chemokine	Elevated in active disease Suitable in chitotriosidase deficient individuals More closely reflects organ volumes than chitotriosidase	Expense No head-to-head comparison with chitotriosidase
Chitotriosidase	Released by glucocerebrosidase-laden Gaucher cells	Elevated in active disease Reduction from baseline values indicates treatment response Increasing values are consistent with active disease	Normal individuals occasionally may not produce chitotriosidase Can vary widely between patients Expense
DNA sequencing	Testing for genetic mutations (known and de novo) in the GBA gene	Provides detailed information regarding genotype, which may be associated with specific forms of the disease Identifies carriers	Expense Variable phenotypic expression
Ferritin, serum iron, iron binding capacity	Iron overload occurs in patients. Uncertain etiology with possible association with HFE gene mutations, chronic inflammation	Correlates with hepatomegaly Decreases with treatment	Nonspecific with poor correlation with organ iron deposition on imaging and disease severity scoring
Glucosylsphingosine	Byproduct related to glucosylceramide, reflecting beta-glucocerebrosidase function	Correlates with other markers of disease activity, organomegaly, platelet levels Decreases with treatment	Expense, availability
Liver function tests (AST, ALT, bilirubin, albumin, total protein)	Hepatic dysfunction related to liver infiltration is common	Provides assessment of active hepatic involvement	May be insensitive to early hepatic involvement
Routine hematological tests (hemoglobin, platelet count, coagulation parameters)	Anemia and thrombocytopenia hallmark features of this disease	Provides information regarding hematologic involvement that may prompt other treatment	Nonspecific for overall disease severity
Tartrate-resistant acid phosphatase	Marker of osteoclasts and Gaucher cells	Decreases with treatment	Nonspecific