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.
| Original language | English |
|---|---|
| Article number | e12568 |
| Pages (from-to) | e12568 |
| Journal | Research and Practice in Thrombosis and Haemostasis |
| Volume | 5 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Aug 2021 |
Bibliographical note
Funding Information:The authors would like to thank the family of the index case for allowing us to share his details. Funding information This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Publisher Copyright:
© 2021 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis (ISTH).