Diagnostic Algorithms

There are three screening algorithms that apply to different and specific populations. These can be used to help healthcare professionals (HCPs) diagnose Gaucher disease in patients following examination and hematological testing.1,2

There are two algorithms for adults (Ashkenazi Jewish and non-Ashkenazi Jewish origin) and a pediatric algorithm. All three algorithms are designed to help guide HCPs in providing timely diagnosis of Gaucher disease.

1. MISTRY, P. et al. Am J Hematol 2011; 86(1): 110–5.
2. DI ROCCO, M. et al. Pediatr Blood Cancer 2014; 61(11): 1905–9.

Diagnosis algorithm for individuals of Ashkenazi origin

Splenomegaly is a key symptom of Gaucher disease and is present in the vast majority of Gaucher patients and forms the starting point of this algorithm. Gaucher disease should be considered in any Ashkenazi Jewish individual presenting with splenomegaly of any severity.

However, if splenomegaly is absent, Gaucher disease can be considered in the presence of thrombocytopenia, bleeding tendency, unexplained stable hyperferritinemia with normal transferrin saturation, or increased inflammatory markers. Please note that a confirmed diagnosis of Gaucher disease requires an enzyme assay conducted using leukocytes or fibroblasts.

diagram_4_jewish_algorithm
1. MISTRY, P. et al. Am J Hematol 2011; 86(1): 110–5.

Diagnostic algorithm for individuals of non-Ashkenazi Jewish origin

Splenomegaly is a key symptom of Gaucher disease and is present in the vast majority of Gaucher patients, and forms the starting point of this algorithm. However, in the general population malignancy is the most likely cause for splenomegaly. It is therefore reasonable to perform a bone marrow biopsy in initial investigations to determine the presence of Gaucher cells in the bone marrow aspirate.

It should be noted that Gaucher disease and malignancy are not mutually exclusive, and pseudo-Gaucher cells have also been observed in malignant conditions in the absence of Gaucher disease. It is therefore important to confirm a diagnosis of Gaucher disease with an enzyme assay conducted using leukocytes or fibroblasts.

diagram_5_algorithm
1. MISTRY, P. et al. Am J Hematol 2011; 86(1): 110–5.

Diagnosis algorithm for the pediatric age group

Similarly to the adult algorithms, the presence of splenomegaly is used as a starting point, as it occurs in up to 95% of pediatric patients.2 It should be noted that adult symptoms such as gallstones, splenic nodules, pregnancy-associated thrombocytopenia, post-partum hemorrhage, or monoclonal gammopathy of undetermined significance should not be considered when assessing pediatric patients.

However, do consider radiologic evidence of bone disease, growth retardation, oculomotor abnormalities, and ferritin or TRAP levels as these can shorten the time needed to diagnose Gaucher diesase in children. Please note that a confirmed diagnosis of Gaucher disease requires an enzyme assay conducted using leukocytes or fibroblasts.

diagram_3_pediatric_algorithm
1. DI ROCCO, M. et al. Pediatr Blood Cancer 2014; 61(11): 1905–9.

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INTSP/C-ANPROM/GAU/16/0011d AUG2016