Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood
Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings such as lack of progenitors or maturation arrest in congenital neutropenia or a la...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2015-07-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fped.2015.00064/full |
| _version_ | 1811255974879559680 |
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| author | Miriam eErlacher Brigitte eStrahm |
| author_facet | Miriam eErlacher Brigitte eStrahm |
| author_sort | Miriam eErlacher |
| collection | DOAJ |
| description | Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia whereas antibody mediated diseases such as autoimmune neutropenia are associated with a rather unremarkable bone marrow morphology. In contrast, pancytopenia is frequently associated with a hypocellular bone marrow and the differential diagnosis includes acquired aplastic anemia, myelodysplastic syndrome, inherited bone marrow failure syndromes such as Fanconi anemia and dyskeratosis congenita and a variety of immunological disorders including hemophagocytic lymphohistiocytosis. Thorough bone marrow analysis is of special importance for the diagnostic work-up of most patients. Cellularity, cellular composition and dysplastic signs are the cornerstones of the differential diagnosis. Pancytopenia in the presence of a normo- or hypercellular marrow with dysplastic changes may indicate myelodysplastic syndrome. More challenging for the hematologist is the evaluation of the hypocellular bone marrow. Although aplastic anemia and hypocellular refractory cytopenia of childhood (RCC) can reliably be differentiated on a morphological level the overlapping pathophysiology remains a significant challenge for the choice of the therapeutic strategy. Furthermore, inherited bone marrow failure syndromes are usually associated with the morphological picture of RCC and the recognition of these entities is essential as they often present a multisystem disease requiring different diagnostic and therapeutic approaches. This paper gives an overview over the different disease entities presenting with (pan)cytopenia, their pathophysiology, characteristic bone marrow findings and therapeutic approaches. |
| first_indexed | 2024-04-12T17:32:40Z |
| format | Article |
| id | doaj.art-1c07fe30ed6a489abb4fa63b76a34e46 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-12T17:32:40Z |
| publishDate | 2015-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-1c07fe30ed6a489abb4fa63b76a34e462022-12-22T03:23:05ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602015-07-01310.3389/fped.2015.00064150916Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhoodMiriam eErlacher0Brigitte eStrahm1University Medical Center FreiburgUniversity Medical Center FreiburgPeripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia whereas antibody mediated diseases such as autoimmune neutropenia are associated with a rather unremarkable bone marrow morphology. In contrast, pancytopenia is frequently associated with a hypocellular bone marrow and the differential diagnosis includes acquired aplastic anemia, myelodysplastic syndrome, inherited bone marrow failure syndromes such as Fanconi anemia and dyskeratosis congenita and a variety of immunological disorders including hemophagocytic lymphohistiocytosis. Thorough bone marrow analysis is of special importance for the diagnostic work-up of most patients. Cellularity, cellular composition and dysplastic signs are the cornerstones of the differential diagnosis. Pancytopenia in the presence of a normo- or hypercellular marrow with dysplastic changes may indicate myelodysplastic syndrome. More challenging for the hematologist is the evaluation of the hypocellular bone marrow. Although aplastic anemia and hypocellular refractory cytopenia of childhood (RCC) can reliably be differentiated on a morphological level the overlapping pathophysiology remains a significant challenge for the choice of the therapeutic strategy. Furthermore, inherited bone marrow failure syndromes are usually associated with the morphological picture of RCC and the recognition of these entities is essential as they often present a multisystem disease requiring different diagnostic and therapeutic approaches. This paper gives an overview over the different disease entities presenting with (pan)cytopenia, their pathophysiology, characteristic bone marrow findings and therapeutic approaches.http://journal.frontiersin.org/Journal/10.3389/fped.2015.00064/fullchildhoodbone marrow failureCytopeniamyelodysplastic syndromeHypocellular bone marrowRefractory cytopenia of childhood |
| spellingShingle | Miriam eErlacher Brigitte eStrahm Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood Frontiers in Pediatrics childhood bone marrow failure Cytopenia myelodysplastic syndrome Hypocellular bone marrow Refractory cytopenia of childhood |
| title | Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood |
| title_full | Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood |
| title_fullStr | Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood |
| title_full_unstemmed | Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood |
| title_short | Missing cells: pathophysiology, diagnosis and management of (pan)cytopenia in childhood |
| title_sort | missing cells pathophysiology diagnosis and management of pan cytopenia in childhood |
| topic | childhood bone marrow failure Cytopenia myelodysplastic syndrome Hypocellular bone marrow Refractory cytopenia of childhood |
| url | http://journal.frontiersin.org/Journal/10.3389/fped.2015.00064/full |
| work_keys_str_mv | AT miriameerlacher missingcellspathophysiologydiagnosisandmanagementofpancytopeniainchildhood AT brigitteestrahm missingcellspathophysiologydiagnosisandmanagementofpancytopeniainchildhood |