Isolated congenital asplenia: An overlooked cause of thrombocytosis

Borsani, Oscar; Asano, Takaki; Boisson, Bertrand; Fraticelli, Sara; Braschi‐Amirfarzan, Marta; Pietra, Daniela; Casetti, Ilaria Carola; Vanni, Daniele; Trotti, Chiara; Borghesi, A.; Casanova, Jean‐Laurent; Arcaini, Luca; Rumi, Elisa

doi:10.1002/ajh.26522

Cited by 3 publications

(1 citation statement)

References 21 publications

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“…The patient, a 33-year-old man, has been suffering from CD for 9 years (Figure 1A). Born with the absence of spleen, he was diagnosed with non-familial type isolated congenital asplenia (ICA) after other developmental defects and family history were excluded (Figure 1B) (8). On the peripheral blood smear of this patient, acanthocytes and Howell-Jolly bodies within red blood cells were detected, suggesting the defect of spleen phagocytic function (Figure 1C).…”

Section: Case Presentationmentioning

confidence: 98%

Case report: Single-cell mapping of peripheral blood mononuclear cells from a patient with both Crohn’s disease and isolated congenital asplenia

Liu

Wang

et al. 2022

Front. Immunol.

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Crohn’s disease (CD), as one of the principal form of inflammatory bowel disease (IBD), is characterized by the chronic and recurring inflammatory conditions in the intestine resulting from the over-activation of intestinal immunity. Hyposplenism is strongly associated with CD, while the effect of human spleen on the differentiation and development of immune cell subsets in CD patients remains unclear. Isolated congenital asplenia (ICA) is an extremely rare condition characterized by the absence of a spleen at birth without any other developmental defects. Here, we describe the first case of a patient with both ICA and CD, and follow the progression of CD from remission to active stage. Using cytometry by time of flight (CyTOF) analysis, we draw the first single-cell mapping of peripheral blood mononuclear cells (PBMC) from this unique patient, tracing back to the innate or adaptive immune cell subsets and cell surface markers affected by the spleen. Based on our analysis, it is speculated that the spleen contributes to maintaining immune homeostasis, alleviating intestinal inflammation and improving prognosis by influencing the differentiation and development of peripheral immune cell subsets and the expression of cell surface markers in patients with CD.

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Section: Case Presentationmentioning

confidence: 98%

Case report: Single-cell mapping of peripheral blood mononuclear cells from a patient with both Crohn’s disease and isolated congenital asplenia

Liu

Wang

et al. 2022

Front. Immunol.

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Isolated congenital asplenia: An overlooked cause of thrombocytosis

et al. 2022

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Interplay of the heart, spleen, and bone marrow in heart failure: the role of splenic extramedullary hematopoiesis

Hiraiwa,

Yura,

Okumura

et al. 2024

Heart Fail Rev

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Improvements in therapies for heart failure with preserved ejection fraction (HFpEF) are crucial for improving patient outcomes and quality of life. Although HFpEF is the predominant heart failure type among older individuals, its prognosis is often poor owing to the lack of effective therapies. The roles of the spleen and bone marrow are often overlooked in the context of HFpEF. Recent studies suggest that the spleen and bone marrow could play key roles in HFpEF, especially in relation to inflammation and immune responses. The bone marrow can increase production of certain immune cells that can migrate to the heart and contribute to disease. The spleen can contribute to immune responses that either protect or exacerbate heart failure. Extramedullary hematopoiesis in the spleen could play a crucial role in HFpEF. Increased metabolic activity in the spleen, immune cell production and mobilization to the heart, and concomitant cytokine production may occur in heart failure. This leads to systemic chronic inflammation, along with an imbalance of immune cells (macrophages) in the heart, resulting in chronic inflammation and progressive fibrosis, potentially leading to decreased cardiac function. The bone marrow and spleen are involved in altered iron metabolism and anemia, which also contribute to HFpEF. This review presents the concept of an interplay between the heart, spleen, and bone marrow in the setting of HFpEF, with a particular focus on extramedullary hematopoiesis in the spleen. The aim of this review is to discern whether the spleen can serve as a new therapeutic target for HFpEF.

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Isolated congenital asplenia: An overlooked cause of thrombocytosis

Abstract: A physician or group of physicians considers presentation and evolution of a real clinical case, reacting to clinical information and data (boldface type). This is followed by a discussion/commentary.

Cited by 3 publications

References 21 publications

Case report: Single-cell mapping of peripheral blood mononuclear cells from a patient with both Crohn’s disease and isolated congenital asplenia

Case report: Single-cell mapping of peripheral blood mononuclear cells from a patient with both Crohn’s disease and isolated congenital asplenia

Isolated congenital asplenia: An overlooked cause of thrombocytosis

Interplay of the heart, spleen, and bone marrow in heart failure: the role of splenic extramedullary hematopoiesis

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