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 |