Information for Haematologists

Haematologists play an important role in the diagnosis of Gaucher disease.

This is because the first manifestations of Gaucher disease tend to reflect the haematological aspects of the disease, and so patients are most likely to be referred to haematologists.1

Symptomatic splenomegaly and/or thrombocytopenia are the presenting features of Gaucher disease most likely to be encountered by haematologists. When splenomegaly and thrombocytopenia are mild, sometimes a diagnosis is arrived at after incidental detection of these abnormalities.2 Information about other haematologic manifestations of Gaucher disease can be found in Clinical manifestations by organ system.

The majority of patients with Gaucher disease (all types) have splenomegaly and/or thrombocytopenia at diagnosis.

* "At diagnosis" is defined as the data point closest to the diagnosis date but no more than ± 2 years from diagnosis. Gaucher Registry, 2006 Annual Report

Bone marrow biopsy and Gaucher cells

It is not uncommon for a diagnosis of Gaucher disease to be made following detection of Gaucher cells in bone marrow specimens. This happens when haematologists suspect a haematological malignancy or are investigating unexplained thrombocytopenia and a bone marrow biopsy is therefore performed.2

Detection of Gaucher cells in bone marrow is not diagnostic but prompts confirmation of Gaucher disease by demonstration of insufficient acid β-glucosidase activity. Bone marrow biopsy should not be performed to diagnose a patient with Gaucher disease unless a haematological co-morbidity is suspected (see more in Identifying Gaucher disease).3


  1. 1.Mistry PK, Cappellini MD, Lukina E, et al. (2011) A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol 86(1): 110-115.
  2. 2.Thomas AS, Mehta A, Hughes DA. (2014) Gaucher disease: haematological presentations and complications. Br J Haematol 165(4): 427-440.
  1. 3.Baris HN, Cohen IJ, Mistry PK. (2014) Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr Endocrinol Rev 12 Suppl 1: 72-81.