Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects

Antonio Girolami; Elisabetta Cosi; Silvia Ferrari; Claudia Santarossa; Bruno Girolami

doi:10.24911/JBCGenetics/183-1592295836

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Online Published: 19 Sep 2020

JBCGenetics. 2020; 3(2): 84-93

doi: 10.24911/JBCGenetics/183-1592295836

Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects

Antonio Girolami, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, Bruno Girolami.

Abstract
Very rare, peculiar congenital bleeding disorders are usually dealt with in clinics without giving much importance. We think that this practice is not correct since the disorders may often provide useful information about blood coagulation. In this review, we assess very rare bleeding conditions. We refer to the defects of the fibrinolytic system, alpha 1-antitrypsin Pittsburg, few dysprothrombinemias, east Texas or short FV defect, FIX Padua, and thrombomodulin (TM) abnormality. These defects are usually not included in rare bleeding disorders. Patients were gathered from two sources: personal files and two time-unlimited PubMed searches carried out on February 2010 and July 2019. Combined defects were disregarded. These rare bleeding conditions are often unrecognized even though some of them, such as antiplasmin deficiency, are not that rare with more than 30 cases reported already. The underevaluation of the fibrinolytic defects is due to the decrease in the use of methods capable of detecting increased fibrinolysis in routine laboratory study. The limited use of immunological tests represents a second drawback as in the dysprothrombinemia, east Texas Factor V, and FIX Padua. Finally, the limited use of assays of natural inhibitors such as tissue factor pathway inhibitor and TM has played a role in delaying east Texas FX recognition and TM defect. The study of rare, peculiar bleeding disorders has been very important in clarifying the nature of the defects, and it has even allowed the identification of mutations that may turn them from prohemorrhagic to prothrombotic in some of these proteins. This has greatly contributed to the understanding of the complex relationship existing among clotting defects.

Key words: Ignored, unrecognized, bleeding, thrombotic disorders

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Pubmed Style

Girolami A, Cosi E, Ferrari S, Santarossa C, Girolami B. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. JBCGenetics. 2020; 3(2): 84-93. doi:10.24911/JBCGenetics/183-1592295836

Web Style

Girolami A, Cosi E, Ferrari S, Santarossa C, Girolami B. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. https://www.jbcgenetics.com/?mno=115567 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1592295836

AMA (American Medical Association) Style

Girolami A, Cosi E, Ferrari S, Santarossa C, Girolami B. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. JBCGenetics. 2020; 3(2): 84-93. doi:10.24911/JBCGenetics/183-1592295836

Vancouver/ICMJE Style

Girolami A, Cosi E, Ferrari S, Santarossa C, Girolami B. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. JBCGenetics. (2020), [cited November 14, 2024]; 3(2): 84-93. doi:10.24911/JBCGenetics/183-1592295836

Harvard Style

Girolami, A., Cosi, . E., Ferrari, . S., Santarossa, . C. & Girolami, . B. (2020) Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. JBCGenetics, 3 (2), 84-93. doi:10.24911/JBCGenetics/183-1592295836

Turabian Style

Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, and Bruno Girolami. 2020. Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. Journal of Biochemical and Clinical Genetics, 3 (2), 84-93. doi:10.24911/JBCGenetics/183-1592295836

Chicago Style

Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, and Bruno Girolami. "Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects." Journal of Biochemical and Clinical Genetics 3 (2020), 84-93. doi:10.24911/JBCGenetics/183-1592295836

MLA (The Modern Language Association) Style

Girolami, Antonio, Elisabetta Cosi, Silvia Ferrari, Claudia Santarossa, and Bruno Girolami. "Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects." Journal of Biochemical and Clinical Genetics 3.2 (2020), 84-93. Print. doi:10.24911/JBCGenetics/183-1592295836

APA (American Psychological Association) Style

Girolami, A., Cosi, . E., Ferrari, . S., Santarossa, . C. & Girolami, . B. (2020) Peculiar, poorly known, rare congenital bleeding disorders presenting thrombotic events: an understudied chapter of molecular, blood coagulation defects. Journal of Biochemical and Clinical Genetics, 3 (2), 84-93. doi:10.24911/JBCGenetics/183-1592295836

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