Symptoms

Clinical presentation of Gaucher disease is highly variable and heterogeneous. Lipid-filled Gaucher cells displace normal cells in affected organs, including the spleen, liver, bones, bone marrow, occasionally the brain and nervous system, and, in rare cases, the lungs.^4-9

Accumulation of Gaucher cells can cause enlargement of the spleen and liver, and subsequently interfere with their function. In addition, Gaucher cells can cause impairment of bone marrow, anemia and thrombocytopenia, compromised bone tissue which results in fractures and pain, nervous system involvement, and in some cases rare, life-threatening pulmonary hypertension.^4,7,9 In this way Gaucher disease is a multisystem disorder.

1. PASTORES, GM. et al. Semin Hematol 2004; 41(Suppl 5): 4−14.

2. INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG). Gaucher Registry Annual Report 2008. Available at: https://www.gauchercare.com/healthcare/registry.aspx Accessed: 12/05/16.

3. MISTRY, P. et al. Am J Hematol 2007; 82(8): 697–701.

4. MEHTA, A. Eur J Int Med. 2006;17:S2–S5.

5. PENNELLI, N et al. Blood. 1969;34:331–47.

6. GRABOWSKI, GA. Hematology Am Soc Hematol Educ Program. 2012:13–8.

7. NAGRAL, A. J Clin Exp Hepatol. 2014; 4:37–50.

8. HOPKIN, RJ and, GRABOWSKI, GA. Chapter 355. Lysosomal Storage Diseases (Chapter). Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL, Jameson JL, Loscalzo J. Harrison’s Principles of Internal Medicine.

9. KOLTER, T and SANDHOFF, K. Biochimica et Biophysica Acta.2006;1758:2057–79.

Pulmonary involvement is not generally seen at time of diagnosis; only 1-2% of patients with Type 1 Gaucher disease exhibit overt pulmonary manifestations in the form of interstitial lung disease or pulmonary vascular disease.

NB. These values represent the symptoms present at the time of diagnosis based on data from 4,936 International Collaborative Gaucher Group (ICGG) registry patients of whom 92% had type 1 disease.³ Percentages represent the proportion of patients with each symptom at diagnosis.³

*Not generally seen at time of diagnosis; only 1–2% of patients with type 1 Gaucher disease exhibit overt pulmonary manifestations in the form of interstitial lung disease or pulmonary vascular disease.
**In Gaucher disease types 2 and 3 only.

Hepatosplenomegaly (liver and spleen enlargement) occurs in nearly all symptomatic patients and may occur to a greater extent in younger patients who also have a greater degree of cytopenias.^1,2 Splenomegaly is often the first clinical presentation; the spleen, which can enlarge up to 75 times, is more enlarged than the liver that can enlarge up to three times.³ Hepatosplenomegaly often leads to massive abdominal distention with anemia and thrombocytopenia.

1. MEHTA, A. Epidemiology and natural history of Gaucher’s disease. Eur J Int Med. 2006;17:S2–S5.

2. HOPKIN, RJ and, GRABOWSKI, GA. Chapter 355. Lysosomal Storage Diseases (Chapter). Fauci AS, Braunwald E, Kasper DL, Hauser SL, Longo DL, Jameson JL, Loscalzo J. Harrison’s Principles of Internal Medicine

3. NAGRAL A. Gaucher disease. J Clin Exp Hepatol. 2014; 4(1): 37–50.

Earlier Diagnosis Strategies: A Non-Haematological Perspective – Dr Jordi Pérez-López

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