Establishing & Confirming a Diagnosis of Gaucher Disease

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Diagnostic Algorithms

These algorithms are designed to help guide HCPs in providing timely diagnosis

Importance of Early Diagnosis

The average time from first appearance of disease symptoms to final diagnosis is 2 years

DBS Kits

The dry blood spot (DBS) kit offers a method to collect blood in order to undertake a diagnostic test


Gaucher disease can be challenging to diagnose due to a number of reasons, including:1,2

– The variability in characteristics, clinical type and disease severity
– The condition is rare, with physicians seeing cases infrequently
– A variety of tissues and organs are affected
– There are a wide range of signs and symptoms

Typically diagnosis can take 48 months,3 and earlier diagnosis would reduce the risk of patients developing complications or having unnecessary medical procedures.3,4

1 NAGRAL, A. J Clin Exp Hepatol. 2014;4(1): 37–50
2 HARMANCI O., BAYRAKTAR Y. World J Gastroenterol. 2008;14:3968-73
3 MISTRY, PK et al. Am J Hematol. 2007;82(8):697-701
4 WEINTHAL, JA. Clin Adv Hematol Oncol. 2012;10(6),
Suppl 8:10-1
A detailed family history is important in establishing a diagnosis of Gaucher disease.

Establishing a Diagnosis

Following a physical examination Gaucher disease can be detected and confirmed by clinical, biochemical and genetic evaluation. Blood counts, liver function tests, medical imaging, and glucocerebrosidase activity measurements in blood leucocytes and/or skin fibroblasts are commonly determined.1-3

1 NAGRAL, A. J Clin Exp Hepatol. 2014;4(1): 37–50
2 LUTSKY KF, TEJWANI NC. Bulletin of the NYU Hospital for Joint Diseases. 2007;65:37-42
3 GRABOWSKY GA Lancet 2008; 372: 1263-1271
Typical signs and symptoms prior to diagnosis

Confirming a Diagnosis of Gaucher Disease

The gold standard for the diagnosis of Gaucher disease is demonstrating low β-glucocerebrosidase activity in peripheral blood leukocytes.1,2 Skin fibroblasts can also be used.1 Typically, patients with Type 1 Gaucher disease have 10–30% of the normal enzyme activity.2

In addition, there is a direct correlation between the levels of residual β-glucocerebrosidase activity in skin fibroblasts and the type of Gaucher disease.3

Higher residual enzyme activity occurs in fibroblasts from patients with Gaucher disease Type 1 than in fibroblasts from patients with either Types 2 or 3.3 Genetic (DNA mutation) testing also confirms the diagnosis, and is reliable for determining the carrier status of close relatives of patients with a confirmed diagnosis of Type 1 Gaucher disease. For carriers, enzyme testing is not considered reliable, so carrier testing depends on identification of the specific mutation in the proband patient.4

1. NAGRAL, A. J Clin Exp Hepatol. 2014;4(1): 37–50.
2. HARMANCI, O, and Bayraktar, Y. J Gastroenterol. 2008;14:3968-73.
3. MEIVAR-LEVY, I et al. Biochem J. 1994;303:377-82.
4. KOPRIVICA, V et al. Am J Hum Genet. 2000;66:1777–86.
Diagnosing Patients with Gaucher disease: Where are we today? – Professor Ari Zimran

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