Pseudo‐Gaucher cells in disseminated mycobacterial infection

Busarla, Satya Vara Prasad; Sadruddin, Feroz Allibhoy; Sohani, Aliyah R.

doi:10.1002/ajh.22269

Cited by 8 publications

(7 citation statements)

References 2 publications

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“…Very rarely, it may be impossible to use cytology for diagnosis when only a few cells are available. In addition, it may be difficult to distinguish Gaucher cells from the so-called “pseudo-Gaucher” cells observed in some blood disorders or infectious diseases, such as myeloma with histiocytic accumulation of immunoglobulin crystals [121], Waldenstrom’s disease and other lymphomas with monoclonal gammopathy [122], chronic myeloid leukemia or myelodysplasia [123,124], or atypical mycobacteria [125]. …”

Section: Diagnosis Of Gaucher Diseasementioning

confidence: 99%

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

Stirnemann¹,

Belmatoug

Camou

et al. 2017

IJMS

602

627

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Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).

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Section: Diagnosis Of Gaucher Diseasementioning

confidence: 99%

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

Stirnemann¹,

Belmatoug

Camou

et al. 2017

IJMS

602

627

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show abstract

“…These are found in several hematological conditions including hemoglobinopathies 47 malignancies, [48][49][50] and mycobacterial infections. 51 Now, the gold standard for diagnosing Gaucher disease is measurement of glucocerebrosidase enzyme activity in leucocytes or skin fibroblasts on a skin biopsy. 52 Enzyme activity in heterozygote carriers and normal individuals may shows overlap and therefore enzyme analysis by itself cannot be used to differentiate carriers from normal individuals.…”

Section: Diagnosismentioning

confidence: 99%

Gaucher Disease

Nagral

2014

Journal of Clinical and Experimental Hepatology

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“…Bone marrow cells with morphological characteristics similar to Gaucher cells and without cytoplasmic crystalline inclusions are rare. These Gaucher-like or pseudo-Gaucher cells can be seen in a variety of conditions such as acute lymphoblastic leukemia, multiple myeloma, myelodysplasia, Hodgkin’s disease, thalassemia, and disseminated mycobacterial infection [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ]. Since the presence of these cells may obscure neoplastic cells in multiple myeloma and may lead to misdiagnosis, it is important for hematologists and hematopathologists to be aware of such a condition in order to make a prompt and accurate diagnosis.…”

Section: To the Editormentioning

confidence: 99%

“…Gaucher-like cells have been described in various hematological disorders [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 ]. These cells are considered to be marrow macrophages seen in circumstances related to high cell turnover [9].…”

Section: To the Editormentioning

confidence: 99%