GAUCHER

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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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 <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>
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</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>

RARE-DISEASE

How to Differentiate Gaucher Disease Type 1

<h3>Understanding the spectrum</h3>
Gaucher disease signs and symptoms are diverse, unpredictable, and variable.1
Gaucher presents on a spectrum of symptoms.&nbsp;This means there is a range of symptoms and symptom severity that people may experience.&nbsp;Some may have long periods of time when little or no symptoms are present. Others may experience only bone (skeletal) or organ-related symptoms.&nbsp;Certain individuals may have central nervous system-related (neuronopathic) symptoms.&nbsp;Gaucher is a lifelong condition no matter what symptoms a patient may present with.1

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 <h3>The symptoms and how Gaucher develops may not be the same for everyone, even for people in the same family.2</h3></td>
 </tr>
 </tbody>
</table>

<h2 style="text-align: center;">Spectrum of Gaucher disease symptoms</h2>
<h3 style="text-align: center;">TYPE 1 
 NON-NEURONOPATHIC FORM</h3>

Patients may experience no symptoms, a combination of symptoms, or all symptoms.2 56% of patients may experience symptoms before 20 years of age.3
Visceral (Organs)3,4
<ul>
 <li>Splenomegaly and/or Hepatomegaly with abdominal pain or distension</li>
 <li>Liver Fibrosis can develop as disease progresses</li>
</ul>
Hematologic (Blood)2,5
<ul>
 <li>Anemia (leading to fatigue)</li>
 <li>Thrombocytopenia leading to easy bruising or bleeding</li>
</ul>
Skeletal (Bone)7
<ul>
 <li>In most patients with Gaucher disease, various manifestations of bone disease progress over years, presenting as chronic or acute bone pain, bone crisis, bone marrow infiltration, bone mineral reduction, osteonecrosis, pathologic fracture, growth delay, and/or Erlenmeyer flask deformity. 82% of patients with Gaucher disease have radiographic evidence of bone disease.</li>
</ul>

<figure class="table" style="width:100%;">
 <table>
 <tbody>
 <tr>
 <td style="background-color:rgb(249, 223, 194);">
 <h3>Some patients with Gaucher disease type 1 may not notice symptoms. These patients may still have effects of the disease such as cytopenia, hepatosplenomegaly, or certain bone manifestations.8</h3></td>
 </tr>
 </tbody>
 </table>
</figure>

<h3 style="text-align: center;">TYPE 3 
 CHRONIC NEURONOPATHIC FORM</h3>

Patients with Gaucher disease type 3 typically exhibit early onset of severe hematological and visceral disease and growth delay throughout childhood, which can be accompanied or followed by the development of neurological symptoms. Approximately 50% of patients will display some signs of neurological manifestations by 2 years of age.9,10
While gaze palsy is the hallmark of Gaucher disease type 3, its absence does not rule out a diagnosis.11-14
Central nervous system, variable onset
<ul>
 <li>Eye abnormalities, which are observed as gaze palsy with markedly slow or absent horizontal saccades14</li>
 <li>Movement disorders, which are observed as ataxia, seizures, myoclonic epilepsy, tremor, and/or dystonia14</li>
</ul>
Other features suggestive of gaucher disease type 3
<ul>
 <li>Kyphosis15</li>
 <li>Lung disease15</li>
 <li>Lymphadenopathy15</li>
 <li>Gaucheromas15</li>
 <li>Cognitive symptoms, manifesting as a spectrum ranging from mild cognitive impairment to severe intellectual disability16</li>
 <li>Hyperreflexia, where exaggerated deep tendon reflexes are observed17</li>
 <li>Bulbar disorders, which are observed as stridor, dysphagia, and/or dysarthria15</li>
</ul>

<figure class="table" style="width:100%;">
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 <tbody>
 <tr>
 <td style="background-color:rgb(249, 223, 194);">
 <h3>The distinction between Gaucher disease type 1 and type 3 is not straightforward, and patients should be frequently assessed for emergence of neurological symptoms during the course of their disease.18-21</h3></td>
 </tr>
 </tbody>
 </table>
</figure>

<h3 style="text-align: center;">TYPE 2 
 ACUTE INFANTILE NEURONOPATHIC FORM</h3>

Patients with Gaucher disease type 2 have early onset of central nervous system symptoms by 6 months of age and rapid nervous system decline in the first 2 years of life.15 These patients can also exhibit the visceral and hematologic symptoms seen in type 1 patients.5
Central nervous system, early onset
<ul>
 <li>Severe stridor and apnea15</li>
 <li>Failure to achieve independent gait14</li>
 <li>Developmental delay&nbsp;and&nbsp;worsening cognitive decline5</li>
 <li>Poor weight gain5</li>
 <li>Feeding difficulties due to abnormal swallowing, often requiring tube feedings5</li>
 <li>Development of spasticity, opisthotonus and/or progressive myoclonic epilepsy5</li>
 <li>Supranuclear gaze palsy or convergent squint12</li>
 <li>Visceral and hematologic symptoms seen in type 1</li>
</ul>

References:&nbsp;1. Sidransky E. Gaucher Disease: Practice Essentials, Background, Pathophysiology. Medscape. Updated October 5, 2023. Accessed July 22, 2025. https://emedicine.medscape.com/article/944157-overview 2. Pastores GM et al. Semin Hematol. 2004;41(4 Suppl 5):4-14. 3. Stirnemann J et al. Int J Mol Sci. 2017;18(2):441. 4. Charrow J et al. Arch Intern Med. 2000;160(18):2835-2843. 5. Grabowski GA et al. The Online Metabolic and Molecular Bases of Inherited Disease. Accessed March 11, 2024. https://ommbid.mhmedical.com/content.aspx?bookid=2709&amp;sectionid=225546056 6. Mikosch PK et al. Wien Med Wochenschr. 2010;160(23-24):609-624. 7. Goker-Alpan O. Mol Genet Metab. 2011;104(4):438-447. 8. Mistry PK et al. Am J Hematol. 2011;86(1):110-115. 9. El-Beshlawy A et al. Mol Genet Metab. 2017;120(1-2):47-56. 10. Tylki-Szymańska A et al. J Inherit Metab Dis. 2010;33(4):339-346. 11. Gary SE et al. Expert Rev Endocrinol Metab. 2018;13(2):107-118. 12. Mistry PK et al. Mol Genet Metab. 2017;120(1-2):8-21. 13. Lu WL et al. Orphanet J Rare Dis. 2023;18(1):293. 14. Zhong W et al. Acta Neurol Belg. 2024;124(4):1213-1223. 15. Schiffmann R et al. J Inherit Metab Dis. 2020;43(5):1056-1059. 16. Daykin EC et al. Mol Genet Metab. 2021;132(2):49-58. 17. Cleveland Clinic. Hyperreflexia: What It Is, Causes, Symptoms &amp; Treatment. Cleveland Clinic. https://my.clevelandclinic.org/health/symptoms/24967-hyperreflexia. Accessed July 23, 2025. 18. Capablo JL et al. J Neurol Neurosurg Psychiatry. 2008;79:219-222. 19. Giraldo P et al. Orphanet J Rare Dis. 2012;7(17):1-10. 20. Giraldo P et al. Blood Cells Mol Dis. 2016;56(1):23-30. 21. Tajima A et al. Mol Genet Metab.2009;97:272-277.

The Spectrum of Gaucher Disease Symptoms

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Gaucher disease: Getting ahead of delays in diagnosis and management

Latest Articles

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How to Differentiate Gaucher Disease Type 1

The Spectrum of Gaucher Disease Symptoms