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Symptoms, Diagnosis, & Testing

Recognizing Gaucher disease and understanding the consequences of delayed diagnosis and treatment.

Recognizing Symptoms of Gaucher Disease

Gaucher disease is an inherited, autosomal recessive lifelong condition marked by extreme diversity in genotype, phenotype, age of onset, and disease severity, as well as an unpredictable, progressive disease course.1,6 Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.7 Symptoms should not be ignored, as this progressive condition may lead to further medical complications.1

SYMPTOMS ARE DIVERSE, UNPREDICTABLE, AND VARIABLE1,6,7

Onset may occur at any age

Onset may occur at any age

Patients may present with only one or some of the symptoms

Patients may present with only one or some of the symptoms

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

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

Signs and symptoms

The signs and symptoms of Gaucher disease may not be obvious. The early signs and symptoms of Gaucher disease type 1 tend to reflect the hematologic aspects of the disease, but skeletal manifestations are often present.2
  • Splenomegaly and/or thrombocytopenia are 2 of the most prominent and frequent symptoms.6
  • Hepatomegaly, anemia, and bone disease are also common.3,6
  • Symptoms often mimic the signs of hematologic malignancies (i.e., leukemia, lymphoma, or multiple myeloma).1
  • Symptoms can begin at any age, and the clinical progression ranges from asymptomatic to life-threatening.1,6

Consequences Of Delayed Diagnosis and Treatment

When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years.1 Gaucher disease is progressive and over time may lead to1,2,8:

  • Bleeding due to thrombocytopenia/ coagulopathy, anemia
  • Progressive visceral enlargement
  • Bone pain, osteonecrosis and fractures
  • Growth failure in children
  • Cytokine storm
  • Markedly reduced quality of life
  • Shortened life and increased cancer risk

Early diagnosis and timely treatment remains important, as damage caused by Gaucher disease may be irreversible.1,2

Suspect Gaucher Disease? Test to Know

  • β-Glucosidase enzyme assay is the standard, recommended method for establishing a confirmatory diagnosis of Gaucher disease, which is demonstrated by deficiency of β-glucosidase activity.2
  • Molecular testing (DNA testing) can be used to confirm the type of Gaucher disease as well as carrier status.2,6

This simple diagnostic algorithm may help you know when to test for Gaucher disease

Don’t miss a Gaucher disease diagnosis. Test to know. It’s just a simple blood-based enzyme assay (glucocerebrosidase).2

References:
  1. 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.
  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. Weinreb NJ. Pathophysiology, clinical features, and natural history of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:3-6
  4. Memorial Sloan Kettering Cancer Center. More Ashkenazi Jews have gene defect that raises inherited breast cancer risk. The Oncologist News Bulletin. 1996;1:335
  5. Mistry PK. Genetics and diagnosis of Gaucher disease. Clin Adv Hematol Oncol. 2012;10(6) Suppl 8:7-9.
  6. 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). pii: E441.
  7. Lachmann RH, Grant IR, Halsall D, et al. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. Q J Med. 2004;97(4):199-204.
  8. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biol Targets Ther. 2010;4:299-313.
  9. Pleat R, Cox TM, Burrow TA, et al. Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial. Mol Genet Metab Rep. 2016;9:25-28.
  10. Shayman JA. Glucosylceramide synthase inhibitor treatment of type 1 Gaucher disease. Drugs Future. 2010;35(8):613-620.
  11. Deegan PB, Cox TM. Imiglucerase in the treatment of Gaucher disease: a history and perspective. Drug Des Devel Ther. 2012;6:81-106.