Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review
Abstract 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 a...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03074-4 |
| _version_ | 1797273236048707584 |
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| author | Yannick Moutapam-Ngamby—Adriaansen François Maillot François Labarthe Bertrand Lioger |
| author_facet | Yannick Moutapam-Ngamby—Adriaansen François Maillot François Labarthe Bertrand Lioger |
| author_sort | Yannick Moutapam-Ngamby—Adriaansen |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-03-07T14:41:34Z |
| format | Article |
| id | doaj.art-418157bc7b22490ea401ba3f29d54850 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T14:41:34Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-418157bc7b22490ea401ba3f29d548502024-03-05T20:20:06ZengBMCOrphanet Journal of Rare Diseases1750-11722024-02-0119111810.1186/s13023-024-03074-4Blood cytopenias as manifestations of inherited metabolic diseases: a narrative reviewYannick Moutapam-Ngamby—Adriaansen0François Maillot1François Labarthe2Bertrand Lioger3Service de Médecine Interne, CHRU de ToursService de Médecine Interne, CHRU de ToursReference Center for Inborn Errors of Metabolism ToTeM, CHRU de Tours, Hôpital ClochevilleService de Médecine Interne Et Polyvalente, 2, Centre Hospitalier de BloisAbstract 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.https://doi.org/10.1186/s13023-024-03074-4Inherited metabolic diseasesDiagnosisCytopeniaAnemiaNeutropeniaSplenomegaly |
| spellingShingle | Yannick Moutapam-Ngamby—Adriaansen François Maillot François Labarthe Bertrand Lioger Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review Orphanet Journal of Rare Diseases Inherited metabolic diseases Diagnosis Cytopenia Anemia Neutropenia Splenomegaly |
| title | Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review |
| title_full | Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review |
| title_fullStr | Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review |
| title_full_unstemmed | Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review |
| title_short | Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review |
| title_sort | blood cytopenias as manifestations of inherited metabolic diseases a narrative review |
| topic | Inherited metabolic diseases Diagnosis Cytopenia Anemia Neutropenia Splenomegaly |
| url | https://doi.org/10.1186/s13023-024-03074-4 |
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