Pseudohomozygous dysfibrinogenemia
Abstract Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful subclassification of patients with HD. We report a ne...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-08-01
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| Series: | Research and Practice in Thrombosis and Haemostasis |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rth2.12568 |
| _version_ | 1827852136727183360 |
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| author | Rachel C. Peck Lucy Fitzgibbon Christopher Reilly‐Stitt Christopher Doherty Emma Phillips Andrew D. Mumford |
| author_facet | Rachel C. Peck Lucy Fitzgibbon Christopher Reilly‐Stitt Christopher Doherty Emma Phillips Andrew D. Mumford |
| author_sort | Rachel C. Peck |
| collection | DOAJ |
| description | Abstract Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful subclassification of patients with HD. We report a new case and identify a further eight previously documented cases that have the laboratory features of HD but biallelic inheritance of quantitative and qualitative fibrinogen gene variants. The cases displayed both bleeding and thrombosis and sometimes had undetectable fibrinogen activity. In all cases, the predicted effect of the coinherited variants is reduced levels of circulating fibrinogen that is all dysfunctional. We propose the term pseudohomozygous dysfibrinogenemia for this subtype of recessively inherited HD that is distinct from the more commonly recognized monoallelic HD caused by a single fibrinogen gene variant. |
| first_indexed | 2024-03-12T10:44:43Z |
| format | Article |
| id | doaj.art-89aca226293545d8a5374e17d0ae88b4 |
| institution | Directory Open Access Journal |
| issn | 2475-0379 |
| language | English |
| last_indexed | 2024-03-12T10:44:43Z |
| publishDate | 2021-08-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Research and Practice in Thrombosis and Haemostasis |
| spelling | doaj.art-89aca226293545d8a5374e17d0ae88b42023-09-02T07:40:20ZengElsevierResearch and Practice in Thrombosis and Haemostasis2475-03792021-08-0156n/an/a10.1002/rth2.12568Pseudohomozygous dysfibrinogenemiaRachel C. Peck0Lucy Fitzgibbon1Christopher Reilly‐Stitt2Christopher Doherty3Emma Phillips4Andrew D. Mumford5School of Cellular and Molecular Medicine University of Bristol Bristol UKSchool of Cellular and Molecular Medicine University of Bristol Bristol UKUniversity Hospitals Bristol and Weston NHS Foundation Trust Bristol UKUniversity Hospitals Bristol and Weston NHS Foundation Trust Bristol UKUniversity Hospitals Bristol and Weston NHS Foundation Trust Bristol UKSchool of Cellular and Molecular Medicine University of Bristol Bristol UKAbstract Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful subclassification of patients with HD. We report a new case and identify a further eight previously documented cases that have the laboratory features of HD but biallelic inheritance of quantitative and qualitative fibrinogen gene variants. The cases displayed both bleeding and thrombosis and sometimes had undetectable fibrinogen activity. In all cases, the predicted effect of the coinherited variants is reduced levels of circulating fibrinogen that is all dysfunctional. We propose the term pseudohomozygous dysfibrinogenemia for this subtype of recessively inherited HD that is distinct from the more commonly recognized monoallelic HD caused by a single fibrinogen gene variant.https://doi.org/10.1002/rth2.12568afibrinogenemiableedingfibrinogen deficiencyhypodysfibrinogenemia |
| spellingShingle | Rachel C. Peck Lucy Fitzgibbon Christopher Reilly‐Stitt Christopher Doherty Emma Phillips Andrew D. Mumford Pseudohomozygous dysfibrinogenemia Research and Practice in Thrombosis and Haemostasis afibrinogenemia bleeding fibrinogen deficiency hypodysfibrinogenemia |
| title | Pseudohomozygous dysfibrinogenemia |
| title_full | Pseudohomozygous dysfibrinogenemia |
| title_fullStr | Pseudohomozygous dysfibrinogenemia |
| title_full_unstemmed | Pseudohomozygous dysfibrinogenemia |
| title_short | Pseudohomozygous dysfibrinogenemia |
| title_sort | pseudohomozygous dysfibrinogenemia |
| topic | afibrinogenemia bleeding fibrinogen deficiency hypodysfibrinogenemia |
| url | https://doi.org/10.1002/rth2.12568 |
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