Signs & Symptoms

Symptoms are diverse and variable, and progression can be unpredictable1

Onset may occur at any age

Onset may occur at any age

Some patients may be asymptomatic while others may experience one or more symptoms

Patients may present with only one or some
of the symptoms

The nature and severity of some symptoms may fluctuate as the disease progresses

The nature and severity of some symptoms may fluctuate as disease progresses

Splenomegaly and/or thrombocytopenia are among the two most prominent and frequent presenting symptoms of Gaucher disease type 1.2

Understanding the signs and symptoms

Gaucher disease type 1 often mimics the signs and symptoms of many hematological malignancies. It also may display inactive periods interrupted by episodes of acute crises or evidence of disease advancement.3,4 Patients may appear to be asymptomatic, yet harbor mild disease manifestations such as cytopenia, splenomegaly, or osteopenia.5

Greater diagnostic awareness may help patients get the treatment they need. Identify Gaucher disease and test—it’s just a simple blood test.5

The spleen is enlarged6

  • Splenomegaly associated with pancytopenia
  • Spleen infarction with accompanying acute abdominal pain

Liver enlargement is also common, but hepatic failure is rare6

Pulmonary findings include:6

  • Interstitial lung disease
  • Alveolar or lobar consolidation
  • Pulmonary hypertension

Cytopenias are nearly universal in untreated GD1 patients6

Thrombocytopenia, resulting from hypersplenism, splenic pooling, or marrow infiltration/infarction6

  • Easy bruising or bleeding may occur

Anemia, resulting from hypersplenism, hemodilution, iron deficiency, or vitamin B12 deficiency, and in advanced cases, decreased erythropoiesis resulting from bone marrow failure due to Gaucher cell infiltration or medullary infarction6

Coagulation abnormalities, arising from coagulation factor deficiencies6

94% of patients with Gaucher disease type 1 in the Gaucher Registry had radiologic evidence of bone disease at diagnosis7

At time of diagnosis, many patients can present with…7

  • Bone marrow infiltration
  • Erlenmeyer flask deformity
  • Pathologic fracture
  • Osteopenia
  • Osteonecrosis

As the disease progresses, patients additionally may develop…6

  • Focal lytic or sclerotic lesions
  • Joint collapse with secondary degenerative arthritis
  • “Bone crisis”: episodes of deep bone pain, often with fever and leukocytosis
  • Neurologic complications secondary to bone disease (i.e., osteopenia with vertebral compression, emboli following long bone fracture)

Skeletal involvement is often the most debilitating aspect of Gaucher disease type 1.6 Symptoms of bone pain and pathologic fractures are also associated with bone malignancy, which a bone marrow aspirate can help rule out. 8,9 Many patients, including those under the age of 10, present with bone-related symptoms.10

 



Gaucher disease signs and symptoms commonly mimic many hematologic malignancies5,12-26

Gaucher disease signs and symptoms

Splenomegaly/
thrombocytopenia?

No hematologic malignancies? It could be Gaucher disease.

Suspect and test

Gaucher disease type 1 can be effectively managed2

Treatment options include oral therapy.2

Learn more

References: 1. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(suppl 5):4-14. 2. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441. 3. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol . 2007;82(8):697-701. 4. Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Onc. 2012;10(6):1-16. 5. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115. 6. Pastores GM, Hughes DA. Gaucher disease. GeneReviews®. Seattle WA: NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/ books/NBK1269/?report=printable. Published July 27, 2000. Updated June 21, 2018. Accessed July 2, 2018. 7. Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry. Demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160(18):2835-2843. 8. ASCO Cancer.Net. Bone Cancer. https://www.cancer.net/cancer-types/bone-cancer/view-all. Published May 2017. Accessed April 23, 2019. 9. ASCO Cancer.Net. Bone Marrow Aspiration and Biopsy. https://www.cancer.net/navigating-cancer-care/diagnosing-cancer/tests-and-procedures/ bone-marrow-aspiration-and-biopsy. Published December 2013. Accessed April 23, 2019. 10. Mistry PK, Weinreb NJ, Kaplan P, et al. Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis. 2011; 46(1): 66–72. 11. Weinreb NJ, Mistry PK, Rosenbloom BE, Dhodapkar MV. MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association. Blood. 2018; 131(22):2500-2501. 12. Grabowski GA, Petsko GA, Phil D, Kolodny EH. Chapter 146: Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill. https://ommbid.mhmedical.com/content.aspx?bookis=971§ionid=62643884. Accessed June 21, 2018. 13. Hoffman R, Benz EJ, Silberstein LE, et al. Hematology: Basic Principles and Practice, 6th edition. 14. O’Donnell M. Acute leukemias. Cancer Management. May 2014. 15. Al-Farsi K. Multiple myeloma: an update. Oman Med J. 2013; 28(1):3-11. 16. National Cancer Institute: Adult Non-Hodgkin’s Lymphoma Treatment (PDQ®). Bethesda, MD: National Cancer Institute. 17. Shankland KR, Hancock BW. Non Hodgkins lymphoma. Lancet. 2012;380: 848-857. 18. Sawyers CL. Chronic Myeloid Leukemia. N Engl J Med. 1999;340(15):1330-1340. 19. Savage DG, Szydlo RM, Goldman JM. Clinical features at diagnosis in 430 patients with chronic myeloid leukaemia seen at a referral centre over a 16-year period. Br J Haematology. 1997;96:111-116. 20. Faderl S, Talpaz M, Estrov, Z, et al. The biology of chronic myeloid leukemia. N Engl J Med. 1999;341(3):164-172. 21. Hairy cell leukemia facts (FS16). Leukemia & Lymphoma Society. https://www.lls.org/sites/default/files/file_assets/hairycellleukemia.pdf. Accessed June 8, 2018. 22. Hairy Cell Leukemia Treatment. Bethesda, MD: National Cancer Institute. http://cancer.gov/cancertopics/pdq/treatment/hairy-cell-leukemia/Patient. 23. Myelofibrosis facts (FS14). Leukemia & Lymphoma Society. http://www.lls.org/sites/default/files/file_assets/FS14_Myelofibrosis_Fact%20Sheet_Final9.12.pdf. Accessed June 8, 2018 24. Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification and management. Am J Hematol. 2013;88:141-150. 25. Thiele J, Kvasnicka HM, Schmitt-Graeff AS, et al. Effects of the tyrosine kinase inhibitor Imatinib mesylate (STI571) on bone marrow features in patients with chronic myelogenous leukemia. Histol Histopathol. 2004;19:1277-1288. 26. Shah D. Multiple Myeloma Clinical Presentation. Medscape.