Hematological signs and symptoms of Gaucher disease

Clinical features at the diagnosis of Gaucher disease frequently include hematological abnormalities, indeed in one study 75% of Gaucher disease patients were diagnosed by a hematologist.4 Hematological features of Gaucher disease include leucopenia and coagulation disorders, but most commonly observed are anemia and thrombocytopenia.5

Anemia may occur as a result of an increase in the hemolytic function of the spleen, hemodilution, iron or vitamin B12 deficiency and may account for fatigue, dyspnea on exertion, and the need for blood transfusions.6 In advanced disease, anemia may occur due to decreased erythropoiesis as a result of bone marrow failure from infiltration by Gaucher cells or from medullary (bone) infarction (i.e. osteonecrosis; where the blood supply to a section of bone is interrupted, leading to ischemia and necrosis).7,8

diagram_2_hema_involv

The mechanisms underlying the hematological manifestations observed in Gaucher disease are usually attributed to hypersplenism and hematopoietic impairment.

1. LECOURT, S. et al. PLoS One 2013; 8(7): e69293.
2. BERGER, J. et al. Br J Haematol 2010; 150: 93–101.
3. SIMPSON, WL. et al. World J Radiol 2014; 6(9): 657–68
4. THOMAS, AS. et al. Blood Cells Mol Dis 2013; 50(3): 212–7.
5. HUGHES, D. et al. Br J Haem 2007; 138(6): 676–86.
6. NAGRAL, A. J Clin Exp Hepatol. 2014; 4:37–50.
7. PASTORES, GM and Hughes, DA. 2000 [Updated 2015]. In: PAGON
RA, et al. editors GeneReviews® [Internet]. Seattle (WA): University of
Washington, Seattle; 1993–2015. http://www.ncbi.nlm.nih.gov/books/NBK1269/. Accessed July 2015.
8. THOMAS AS, et al. Br J Haematol. 2014; 165(4):427–40.

Thrombocytopenia

Thrombocytopenia is defined as a platelet count of <120 x 109/L (normal range: 150–440 x 109/L) 1,2

It is common in adults and children with Gaucher disease, occurring in approximately 60% of patients at the time of diagnosis3

It may occur despite hemoglobin levels being within the normal range, and in the absence of splenomegaly4,5

Thrombocytopenia is often included in screening algorithms for Gaucher disease6.7

1. FAIRLEY, C. et al. J Inherit Metab Dis 2008; 31: 738–44.
2. WHO. The Clinical Use Of Blood Handbook. Available at: http://www.who.int/bloodsafety/clinical_use/en/Handbook_EN.pdf?ua=1. 2002 Accessed: 28/09/15.
3. INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG). Gaucher Registry Annual Report 2008. Available at: https://www.gauchercare.com/healthcare/registry.aspx Accessed: 12/05/16.
4. ZIMRAN, A. et al. Hematology 2005; 10(2): 151–6.
5. ROSENBLOOM, B. et al. Blood 2011; 118(21): 4217 (Abstract from ASH 2011).
6. MISTRY, P. et al. Am J Hematol 2011; 86(1): 110–5.
7. DI ROCCO, M. et al. Pediatr Blood Cancer 2014; 61(11): 1905–9.

Anemia

Anemia is defined as hemoglobin levels <11 g/dL in women and <12 g/dL in men (normal range: 12–16 g/dL in women and 14–17 g/dL in men) 1,2

It is not as commonly seen as thrombocytopenia, but occurs in approximately 37% of patients at the time of diagnosis3

In patients who present with anemia in the absence of thrombocytopenia, it is highly probable that the anemia is due to non-Gaucher related etiology4

1. FAIRLEY, C. et al. J Inherit Metab Dis 2008; 31: 738–44.
2. WIANS, FH. Blood Tests: Normal Values. Available at: http://www.merckmanuals.com/professional/appendixes/normal-laboratory-values/blood-tests-normal-values Accessed: 18/05/16.
3. INTERNATIONAL COLLABORATIVE GAUCHER GROUP (ICGG). Gaucher Registry Annual Report 2008. Available at: https://www.gauchercare.com/healthcare/registry.aspx Accessed: 12/05/16.
4. ZIMRAN, A. et al. Hematology 2005; 10(2): 151–6.

Hyperferritinemia

Hyperferritinema is defined as ferritin levels >150 ng/mL in women and >200 ng/mL in men (normal range: 15–200 ng/mL)1,2

It is also a frequent finding in Gaucher disease, occurring in approximately 87% of patients at the time of diagnosis3

With hyperferritinemia, there is a need to measure serum transferrin saturation levels to exclude a diagnosis of hemochromatosis4

1. WIANS, FH. Blood Tests: Normal Values. Available at: http://www.merckmanuals.com/professional/appendixes/normal-laboratory-values/blood-tests-normal-values Accessed: 18/05/16.
2. WHO. Serum ferritin concentrations for the assessment of iron status and iron deficiency in populations. Available at: http://www.who.int/vmnis/indicators/serum_ferritin.pdf Accessed: 18/05/16.
3. THOMAS, AS. et al. Blood Cells Mol Dis 2013; 50(3): 212–7.
4. HUGHES, D .et al. Br J Haem 2007; 138(6): 676–86.

Other common laboratory abnormalities include raised serum angiotensin-converting enzyme (ACE) and low high-density lipoprotein (HDL)-cholesterol.1

1. THOMAS, AS. et al. Blood Cells Mol Dis 2013; 50(3): 212–7.

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