Gaucher Cells or Pseudo-Gaucher Cells: That’s the Question

D, Gören Şahin; H, Üsküdar Teke; M, Karagülle; Andıç, Neslihan; Gündüz, Eren; Işıksoy, Serap; Balic, M.; Om, Akay

doi:10.4274/tjh.2014.0019

Cited by 10 publications

(9 citation statements)

References 10 publications

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“…Gaucher and pseudo-Gaucher cells can be differentiated by iron staining, where the former are well stained in contrast to the latter, and with examination under the electron microscope, which demonstrates the characteristic tubular cytoplasmic inclusions of Gaucher cells. 6 , 7 In our case, the pathologist identified a cluster of histiocytes with features of Gaucher cells in the bone biopsy specimen, and this was crucial for additional laboratory investigation and final confirmation. Nonetheless, biopsy is not usually necessary for the diagnosis of the disease.…”

Section: Discussionmentioning

confidence: 73%

Gaucher Disease: An Unusual Cause of Knee Pain

Gigis¹,

Pitsilos²,

Samoladas³

et al. 2022

JAAOS Glob Res Rev

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Introduction:Gaucher disease (GD) is a genetic lysosomal disorder leading to storage of the glycolipid molecule glucocerebroside in macrophages, causing multiorgan dysfunction. Bone marrow involvement may result in painful bone crisis and hematologic disturbance.Case Report:We present a case of a 13-year-old adolescent boy with right knee pain. Radiograph and magnetic resonance imaging of the distal femur indicated possible osteomyelitis or bone tumor. However, histologic examination of bone biopsy material suggested the diagnosis of GD, which was confirmed by detection of decreased β-glucocerebrosidase activity and identification of the exact gene mutation.Discussion:Many visceral and bone abnormalities of GD have been described. The diagnosis of GD is based on clinical and laboratory findings and is established by the measurement of β-glucocerebrosidase dysfunction and the study of GBA gene mutations. Treatment is currently based on enzyme replacement and substrate reduction.Conclusion:This is a rare case of GD presenting initially with knee pain. Because early diagnosis is important for the treatment of this condition, orthopaedic surgeons should consider this uncommon cause in the differential diagnosis of joint pain.

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Section: Discussionmentioning

confidence: 73%

Gaucher Disease: An Unusual Cause of Knee Pain

Gigis¹,

Pitsilos²,

Samoladas³

et al. 2022

JAAOS Glob Res Rev

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“…A further confounding factor was the realization that certain disorders associated with a high turnover of cellular membranes resulted in the generation of pseudo-Gaucher cells. [Gaucher-like or pseudo-Gaucher cells can be seen in acute lymphoblastic leukemia, multiple myeloma, myelodysplasia, Hodgkin’s disease, thalassemia, and disseminated mycobacterial infection [ 9 ]. Immunohistochemical studies show that Gaucher cells react for monocytic antibodies but differ from normal monocytes by a very strong expression of HLA-DR antigens, an active role in the chronic stimulation of the immune system [ 10 ]].…”

Section: Gaucher Disease and Malignancymentioning

confidence: 99%

Lysosomal Storage Disorders and Malignancy

Pastores

Hughes

2017

Diseases

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Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased frequency of polyclonal and monoclonal gammopathy among patients with GD. It has been shown that two major sphingolipids that accumulate in GD, namely, β-glucosylceramide 22:0 (βGL1-22) and glucosylsphingosine (LGL1), can be recognized by a distinct subset of CD1d-restricted human and murine type II natural killer T (NKT) cells. Investigations undertaken in an affected mouse model revealed βGL1-22-and LGL1-specific NKT cells were present and constitutively promoted the expression of a T-follicular helper (TFH) phenotype; injection of these lipids led to downstream induction of germinal center B cells, hypergammaglobulinemia, and the production of antilipid antibodies. Subsequent studies have found clonal immunoglobulin in 33% of sporadic human monoclonal gammopathies is also specific for the lysolipids LGL1 and lysophosphatidylcholine (LPC). Furthermore, substrate reduction ameliorated GD-associated gammopathy in mice. It had been hypothesized that chronic antigenic stimulation by the abnormal lipid storage and associated immune dysregulation may be the underlying mechanism for the increased incidence of monoclonal and polyclonal gammopathies, as well as an increased incidence of multiple myeloma in patients with GD. Current observations support this proposition and illustrate the value of investigations into rare diseases, which as 'experiments of nature' may provide insights into conditions found in the general population that continue to remain incompletely understood.

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“…I read the paper entitled “Gaucher cells or pseudo-Gaucher cells: that’s the question” written by Gören Şahin et al in a recent issue of this journal. The authors mentioned the main findings of Gaucher cells and pseudo-Gaucher cells in their article without calling attention to the lysosomal enzyme β-glucocerebrosidase levels [ 1 ].…”

Section: To the Editormentioning

confidence: 99%

Gaucher Disease and Gaucher Cells

Gözdaşoĝlu¹

2015

Tjh

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Gaucher Cells or Pseudo-Gaucher Cells: That’s the Question

Cited by 10 publications

References 10 publications

Gaucher Disease: An Unusual Cause of Knee Pain

Gaucher Disease: An Unusual Cause of Knee Pain

Lysosomal Storage Disorders and Malignancy

Gaucher Disease and Gaucher Cells

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