Non-immune Hemolysis in Gaucher Disease and Review of the Literature

Hershkop, Eliyakim; Bergman, Idan; Kurolap, Alina; Dally, Najib; Feldman, Hagit Baris

doi:10.5041/rmmj.10446

Cited by 5 publications

(4 citation statements)

References 31 publications

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“…Next step for differential diagnosis, if none of the infective agents are confirmed, should be exclusion of malignancies, which require a more invasive approach—biopsy of bone marrow, spleen, and lymph nodes [ 34 , 47 – 50 ]. We recommend obtaining enough specimens to test them for splenic tumors, sarcoidosis, Gaucher’s disease as well [ 51 – 53 ].…”

Section: Discussionmentioning

confidence: 99%

Visceral leishmaniasis misdiagnosed as an upper respiratory infection and iron-deficiency anemia in a 20-month-old male patient: a case report

Chakhunashvili,

Kvirkvelia

2024

J Med Case Reports

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Background Visceral Leishmaniasis should be suspected in every patient with a history of splenomegaly, fever, and pancytopenia. It is one of the most dangerous forms of infection and prompt recognition is the key to positive outcome. Case presentation A 20-month-old Caucasian male patient was brought to our hospital as an outpatient with the complaint of persistent fever, which did not improve with empiric antibiotic treatment (> 96 hour after the initial dose). The antibiotic treatment had been prescribed by primary care physician at polyclinic, who also referred the patient to hematologist due to anemia, who prescribed iron supplement. Despite multiple subspecialist visits, bicytopenia was, unfortunately, left unidentified. Upon physical examination no specific signs were detected, however, spleen seemed slightly enlarged. Patient was admitted to the hospital for further work-up, management and evaluation. Abdominal ultrasound, complete blood count and c-reactive protein had been ordered. Hematologist and infectionist were involved, both advised to run serology for Epstein-Barr Virus and Visceral Leishmaniasis. The latter was positive; therefore, patient was transferred to the specialized clinic for specific management. Conclusion Both in endemic and non-endemic areas the awareness about VL should be increased among the medical professionals. We also recommend that our colleagues take the same approach when dealing with bicytopenia and fever, just as with pancytopenia and fever. The medical community should make sure that none of the cases of fever and pancytopenia are overlooked, especially if we have hepatomegaly and/or splenomegaly.

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Section: Discussionmentioning

confidence: 99%

Visceral leishmaniasis misdiagnosed as an upper respiratory infection and iron-deficiency anemia in a 20-month-old male patient: a case report

Chakhunashvili,

Kvirkvelia

2024

J Med Case Reports

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“…In untreated patients with Gaucher disease, various abnormal RBC shapes have been reported, including schistocytes, dacryocytes, and echinocytes. [ 56 ] Auto-immune hemolytic anemia is also more common in patients with Gaucher disease than in the general population, with reported incidences varying between 0.55 and 2.7% [ 57 ].…”

Section: Anemiamentioning

confidence: 99%

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

Moutapam-Ngamby—Adriaansen,

Maillot,

Labarthe

et al. 2024

Orphanet J Rare Dis

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Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting with cytopenia. However, it is essential to note that the existing scientific literature pertaining to the link between IMD and cytopenia is limited, primarily comprising case reports and case series. This paucity of data may contribute to the inadequate recognition of the association between IMD and cytopenia, potentially leading to underdiagnosis. In this review, we synthesize our findings from a literature analysis along with our clinical expertise to offer a comprehensive insight into the clinical presentation of IMD cases associated with cytopenia. Furthermore, we introduce a structured diagnostic approach underpinned by decision-making algorithms, with the aim of enhancing the early identification and management of IMD-related cytopenia.

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“…Hepatosplenomegaly in GD results from the accumulation of lipid-laden macrophages, known as Gaucher cells, in these organs. The enlarged spleen can lead to increased sequestration and destruction of blood cells, worsening haematological conditions such as anaemia and thrombocytopenia (24). Splenomegaly can also cause discomfort, early satiety and potential nutritional problems (1) (25), while hepatomegaly can cause abdominal discomfort and, in advanced stages, liver dysfunction including fibrosis or cirrhosis and possibly portal hypertension (15).…”

Section: Systemic Levelmentioning

confidence: 99%

Gaucher’s Disease – current state of knowledge and future perspectives?

Szymańska,

Krasnoborska,

Samojedny

et al. 2024

J Educ Health Sport

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Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in diagnostic and therapeutic innovations. In this review we aimed to underscore the challenges it presents and the ongoing efforts to overcome them. State of knowledge: GD, characterized by the accumulation of glucocerebroside, involves molecular, cellular, and systemic dysfunctions. At the molecular level, mutations in the GBA gene give rise to diverse manifestations, influencing disease severity. Cellular disruptions lead to lysosomal dysfunction, altered calcium homeostasis, and chronic inflammation, impacting various organ systems. Diagnostic approaches involve biomarkers, genetic testing, and imaging studies, each playing a crucial role in confirming the disease type and assessing its grade. Summary: Management and treatment strategies for GD have evolved, with enzyme replacement therapy and substrate reduction therapy serving as the basics. However, challenges persist, including limited efficacy in treating neurological symptoms and the high cost of treatments. The review highlights ongoing research and future perspectives in GD therapy.

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Non-immune Hemolysis in Gaucher Disease and Review of the Literature

Cited by 5 publications

References 31 publications

Visceral leishmaniasis misdiagnosed as an upper respiratory infection and iron-deficiency anemia in a 20-month-old male patient: a case report

Visceral leishmaniasis misdiagnosed as an upper respiratory infection and iron-deficiency anemia in a 20-month-old male patient: a case report

Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

Gaucher’s Disease – current state of knowledge and future perspectives?

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