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<h2>Gaucher disease commonly mimics the manifestations of many hematological malignancies1</h2>
Include Gaucher disease type 1 in your differential diagnosis. These charts, broken out by specialty, may help.
Please note that not all the signs and symptoms or potential differential diagnoses for Gaucher are included in this chart. Physicians should determine the appropriate differentials according to each patient's condition.

<h3>For Hematologist-Oncologists and Orthopedists2-19</h3>

aAcid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease types A, B, and A/B.

<h3>For Gastroenterologists, Hepatologists, and Pulmonologists2,3,20-27</h3>

aPulmonary symptoms are uncommon for patients with Gaucher disease type 1.

<h3>For Primary Care Physicians and Pediatricians2,3,5,11,12,15,16,21,22,25,28-31</h3>

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 <h3>Early diagnosis and management of Gaucher disease type 1 may help prevent irreversible complications or unnecessary procedures.1</h3></td>
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<table border="1" cellpadding="1" cellspacing="1" style="width:100%;">
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 <td style="background-color: rgb(249, 223, 194);">
 <h3>Beta-glucosidase enzyme assay is the standard, recommended method for establishing a confirmatory diagnosis of Gaucher disease, which is demonstrated by deficiency of beta-glucosidase activity.2</h3></td>
 </tr>
 </tbody>
</table>

<h2>Molecular testing (DNA testing) can be used to establish a diagnosis of Gaucher disease, as well as carrier status.2</h2>
A bone marrow biopsy is typically not necessary or recommended to diagnose GD because although bone marrow biopsy specimens can rule out hematologic malignancies, they are not reliable for establishing the presence of Gaucher cells.2

References: 1. Mistry PK, Sadan S, Yang R, Yee J, Yang M. 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. 2. 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. 3. Grabowski GA, Petsko GA, Kolodny EH. Gaucher disease. In: Valle D, Beaudet AL, Vogelstein B, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2014: chap 146. Accessed July 17, 2023. <a href="https://ommbid.mhmedical.com/content.aspx?bookid=2709&amp;sectionid=225546056" target="_blank">https://ommbid.mhmedical.com/content.aspx?bookid=2709&amp;sectionid=225546056</a> 4. Hoffman R, Benz EJ Jr, Silberstein LE, Heslop HE, Weitz JI, Anastasi J. Hematology: Basic Principles and Practice. 6th ed. Elsevier Saunders; 2013. 5. O’Donnell MR. Acute leukemias. Cancer Network. Published June 1, 2016. Accessed July 17, 2023. <a href="https://www.cancernetwork.com/view/acute-leukemias" target="_blank">https://www.cancernetwork.com/view/acute-leukemias</a> 6. Sawyers CL. Chronic myeloid leukemia. N Engl J Med. 1999;340(17):1330-1340. 7. Savage DG, Szydlo RM, Goldman JM. Clinical features at diagnosis in 430 patients with chronic myeloid leukemia seen at a referral centre over a 16-year period. Br J Haematol. 1997;96(1):111-116. 8. Faderl S, Talpaz M, Estrov Z, et al. The biology of chronic myeloid leukemia. N Engl J Med. 1999;341(3):164-172. 9. Hairy cell leukemia facts (FS16). Leukemia &amp; Lymphoma Society. Revised October 2013. Accessed July 17, 2023. <a href="https://www.lls.org/sites/default/files/file_assets/hairycellleukemia.pdf" target="_blank">https://www.lls.org/sites/default/files/file_assets/hairycellleukemia.pdf</a> 10. Hairy cell leukemia treatment (PDQ®)—health professional edition. National Cancer Institute. Updated December 21, 2022. Accessed July 17, 2023. <a href="https://www.cancer.gov/types/leukemia/hp/hairy-cell-treatment-pdq" target="_blank">https://www.cancer.gov/types/leukemia/hp/hairy-cell-treatment-pdq</a> 11. Adult non-Hodgkin lymphoma treatment (PDQ®)-patient version. National Cancer Institute. Updated December 29, 2022. Accessed July 17, 2023. <a href="http://cancer.gov/cancertopics/pdq/treatment/adultnon-hodgkins/Patient" target="_blank">http://cancer.gov/cancertopics/pdq/treatment/adultnon-hodgkins/Patient</a> 12. Shankland KR, Armitage JO, Hancock BW. Non-Hodgkin lymphoma. Lancet. 2012;380(9844):848-857. 13. Myelofibrosis facts (FS14). Leukemia &amp; Lymphoma Society. Revised November 2015. Accessed July 17, 2023. <a href="https://www.lls.org/sites/default/files/file_assets/FS14_Myelofibrosis" target="_blank">https://www.lls.org/sites/default/files/file_assets/FS14_Myelofibrosis</a> Fact Sheet.pdf 14. Tefferi A. Primary myelofibrosis: 2013 update on diagnosis, risk-stratification, and management. Am J Hematol. 2013;88(2):141-150. 15. Al-Farsi K. Multiple myeloma: an update. Oman Med J. 2013;28(1):3-11. 16. Shah D. Multiple myeloma clinical presentation. Medscape. Updated January 13, 2023. Accessed July 17, 2023. <a href="http://emedicine.medscape.com/article/204369-clinical" target="_blank">http://emedicine.medscape.com/article/204369-clinical</a> 17. Kaplan P, Baris H, de Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172(4):447-458. 18. McGovern MM, Dionisi-Vici C, Giugliani R, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genet Med. 2017;19(9):967-974. 19. Cox GF, Clarke LA, Giugliani R, et al. Burden of illness in acid sphingomyelinase deficiency: a retrospective chart review of 100 patients. JIMD Rep. 2018;41:119-129. 20. Medline Plus. Autoimmune lymphoproliferative syndrome. National Institutes of Health. Updated December 1, 2018. Accessed July 18, 2023. <a href="https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferativesyndrome/" target="_blank">https://medlineplus.gov/genetics/condition/autoimmune-lymphoproliferativesyndrome/</a> 21. Mayo Clinic. Inflammatory bowel disease (IBD). Accessed July 17, 2023. <a href="https://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/symptomscauses/syc-20353315?p=1" target="_blank">https://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/symptomscauses/syc-20353315?p=1</a> 22. Nunes H, Bouvry D, Soler P, Valeyre D. Sarcoidosis. Orphanet J Rare Dis. 2007;2:46. 23. Cleveland Clinic. Interstitial lung disease. Reviewed August 5, 2022. Accessed July 17, 2023.&nbsp;<a href="https://my.clevelandclinic.org/health/diseases/17809-interstitial-lung-disease" target="_blank">https://my.clevelandclinic.org/health/diseases/17809-interstitial-lung-disease</a> 24. Mayo Clinic. Cirrhosis. Accessed July 17, 2023. <a href="https://www.mayoclinic.org/diseasesconditions/cirrhosis/symptoms-causes/syc-20351487?p=1" target="_blank">https://www.mayoclinic.org/diseasesconditions/cirrhosis/symptoms-causes/syc-20351487?p=1</a> 25. Mayo Clinic. Nonalcoholic fatty liver disease. Accessed July 17, 2023. <a href="https://www.mayoclinic.org/diseasesconditions/nonalcoholic-fatty-liver-disease/symptoms-causes/syc-20354567?p=1" target="_blank">https://www.mayoclinic.org/diseasesconditions/nonalcoholic-fatty-liver-disease/symptoms-causes/syc-20354567?p=1</a> 26. Cleveland Clinic. Hepatitis: Viral hepatitis. Accessed July 17, 2023. <a href="https://my.clevelandclinic.org/health/diseases/4245-hepatitis-viral-hepatitis-a-b--c" target="_blank">https://my.clevelandclinic.org/health/diseases/4245-hepatitis-viral-hepatitis-a-b--c</a> 27. Adams DH, Hubscher SG. Systemic viral infections and collateral damage in the liver. Am J Pathol. 2006;168(4):1057-1059. 28. Mayo Clinic. Thalassemia. Accessed July 17, 2023. <a href="https://www.mayoclinic.org/diseases-conditions/thalassemia/symptomscauses/syc-20354995?p=1" target="_blank">https://www.mayoclinic.org/diseases-conditions/thalassemia/symptomscauses/syc-20354995?p=1</a> 29. Piga A. Impact of bone disease and pain in thalassemia. Hematology Am Soc Hematol Educ Program. 2017;2017(1):272-277. 30. Mayo Clinic. Mononucleosis. Accessed July 17, 2023. <a href="https://www.mayoclinic.org/diseasesconditions/mononucleosis/symptoms-causes/syc-20350328?p=1" target="_blank">https://www.mayoclinic.org/diseasesconditions/mononucleosis/symptoms-causes/syc-20350328?p=1</a> 31. Mayo Clinic. Iron deficiency anemia. Published January 4, 2022. Accessed July 17, 2023. <a href="https://www.mayoclinic.org/diseases-conditions/iron-deficiency-anemia/symptomscauses/syc-20355034?p=1450" target="_blank">https://www.mayoclinic.org/diseases-conditions/iron-deficiency-anemia/symptomscauses/syc-20355034?p=1450</a>

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How to Differentiate Gaucher Disease Type 1