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Recognize Gaucher disease type 1 and understand the consequences of delayed diagnosis and treatment
Recognizing symptoms of Gaucher disease type 1
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.1,2 Signs, symptoms, and clinical course may differ even among individuals with the same genotype and within the same family.3 It may also display inactive periods interrupted by episodes of acute crisis or evidence of disease advancement. Patients may appear to be asymptomatic, yet harbor disease manifestations such as cytopenia, splenomegaly, or osteopenia.1,4 Symptoms should not be ignored, as this progressive condition may lead to further medical complications.1
Symptoms are diverse, unpredictable, and variable1-3
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Onset may occur at any age.
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Some patients may be asymptomatic while others may experience one or more symptoms.
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The nature and severity of some symptoms may fluctuate as disease progresses.
Signs and symptoms
The signs and symptoms of Gaucher disease type 1 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.4
- Splenomegaly and/or thrombocytopenia are two of the most prominent and frequent symptoms2
- Hepatomegaly, anemia, and bone disease are also common2,5
- 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-threatening1,2
- Growth failure can occur in children6
Incidence of manifestations in untreated Gaucher disease type 14,6-8
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Splenomegaly and/or thrombocytopenia are among the most prominent and frequent presenting symptoms of Gaucher disease type 1.4,9
A delayed diagnosis can lead to further disease progression and multisystemic complications.1
Consequences of delayed diagnosis
When the diagnosis is missed, a patient with Gaucher disease type 1 may experience delays for up to 10 years. Gaucher disease type 1 is progressive and over time may lead to1,4,10:
- Bleeding due to thrombocytopenia/coagulopathy, or anemia
- Progressive visceral enlargement
- Bone pain, osteonecrosis, and fractures
- Growth delay in children
- Markedly reduced quality of life
- Shortened life
Early diagnosis and proper management remain important, as damage caused by Gaucher disease type 1 may be irreversible.1,4
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 activity4
- Molecular testing (DNA testing) can be used to establish a diagnosis of Gaucher disease, as well as carrier status.2,4
- A bone marrow biopsy is typically not necessary or recommended to diagnose Gaucher disease because although bone marrow biopsy specimens can rule out hematologic malignancies, they are not reliable for establishing the presence of Gaucher cells.1
This diagnostic algorithm may help you know when to test for Gaucher disease4
Don’t miss a Gaucher disease diagnosis. Test to know. Blood-based enzyme assay (ß-glucosidase) is the gold standard for definitive diagnosis of Gaucher.4,a
aThe above algorithm is for the general population. Gaucher disease type 1 is more prevalent in individuals of Ashkenazi Jewish descent and should be investigated before hematologic malignancies.
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ERT=enzyme replacement therapy.
Indication
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. 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):441. 3. Lachmann RH, Grant IR, Halsall D, Cox TM. Twin pairs showing discordance of phenotype in adult Gaucher’s disease. QJM. 2004;97(4):199-204. 4. 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. 5. Weinreb NJ, Camelo Jr JS, Charrow J, McClain MR, Mistry P, Belmatoug N. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Mol Genet Metab. 2021;132(2):100-111. 6. Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603-608. 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. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4-14. 9. Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Oncol. 2012;10(6 Suppl 8):1-16. 10. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics. 2010;4:299-313.
