Signs and symptoms

The primary pathology in Gaucher disease is the storage of glucosylceramide in cells of monocyte/macrophage lineage due to insufficient activity of the lysosomal enzyme acid β-glucosidase.1

Consequently, disease manifestations occur in all organs to which macrophages with accumulated glucosylceramide (‘Gaucher cells’; see Identifying Gaucher) migrate.

Organs affected by Gaucher disease include the liver, spleen, bone/bone marrow, and the lungs.2 Enlargement of the spleen and/or liver and haematological abnormalities are typical manifestations of all types of Gaucher disease. Bone disease typically manifests in Gaucher disease type 1 and 3. Symptomatic pulmonary involvement is rare in Gaucher disease type 1.3

Primary CNS involvement is restricted to neuronopathic Gaucher disease (type 2/type 3).1 The mechanism of CNS involvement is uncertain but may involve the release of toxic mediators from glucosylceramide-laden macrophages found residing within the central nervous system (CNS) of individuals with Gaucher disease.2 Brainstem abnormalities and fine motor dysfunction are typical neurologic manifestations.4

Neurologic manifestations do occur in patients with Gaucher disease type 1 but they are of a different kind than those associated with neuronopathic Gaucher disease. They include neurological complaints due to neural damage secondary to bone disease, and variants of Parkinsonism, of which the mechanism of association with Gaucher disease is unknown.2

This section describes the signs and symptoms and clinical presentation of Gaucher disease in detail, and describes how to identify Gaucher disease in the clinical setting.

Case Studies

Case Studies

The diagnosis of Gaucher disease can present a significant clinical challenge. However, it can be accurately diagnosed and successfully managed if detected early. 

Clinical Presentation

Clinical Presentation

Learn more about the clinical presentations of Gaucher Disease.

Identifying Gaucher

Identifying Gaucher

It can be difficult to recognise Gaucher disease because of its rarity and because signs and symptoms are common to a number of conditions.5 Unexplained splenomegaly and/or thrombocytopenia should raise suspicion of Gaucher disease.


Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.


  1. 1.Cox TM. (2010) Gaucher disease: clinical profile and therapeutic developments. Biologics 4: 299-313.
  2. 2.Grabowski, G. A., Petsko GA, Kolodny EH. Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2014.
  3. 3.Mistry PK, Sirrs S, Chan A, et al. (2002) Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab 77(1-2): 91-98.
  1. 4.Tylki-Szymanska A, Vellodi A, El-Beshlawy A, Cole JA, Kolodny E. (2010) Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. J Inherit Metab Dis 33(4): 339-346.
  2. 5.Thomas AS, Mehta AB, Hughes DA. (2013) Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol Dis 50(3): 212-217.