Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
Wolfgang MiesbachDennis K Galanakis

Abstract

Hereditary dysfibrinogenemia is a rare clotting disorder, which results from mutations in at least one of the three fibrinogen genes. We examined the frequency of hemostatic clinical and laboratory anomalies at presentation of 37 probands from 12 unrelated families with five different defects (Aalpha R16C, gamma A357T, gamma318-319 del, gamma M310T, and Aalpha R16S), among. The median age was 51 years (11-86 years). Among 62% who were women three (13%) had experienced one or more spontaneous abortion. More than half of the probands had experienced one or more undue bleeding episode, easy bruising being by far the most common. In 19% of probands (9/37, all above age of 50 years), had experienced at least one episode of arterial or venous thrombosis. Among these, were two (7%) with deep venous thrombosis, seven with arterial thrombosis, and five (14%) had experienced both. We propose that the higher frequency of prolonged PT than aPTT, in ours and in other reported studies, reflects the polymerization delay, which in aPTT is attenuated owing to contact activation prior to calcium addition.

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Citations

Jul 28, 2012·International Journal of Hematology·Toshio ShigekiyoKen-ichi Aihara
Oct 17, 2014·Blood·Alessandro CasiniPhilippe de Moerloose
Mar 31, 2015·Journal of Thrombosis and Haemostasis : JTH·A CasiniP de Moerloose
Jun 14, 2016·Haemophilia : the Official Journal of the World Federation of Hemophilia·A Casini, P de Moerloose
Nov 24, 2016·Hämostaseologie·James R Byrnes, Alisa S Wolberg
Apr 28, 2017·BJOG : an International Journal of Obstetrics and Gynaecology
Jun 6, 2018·Journal of Thrombosis and Thrombolysis·Meiling LuoFaquan Lin
Oct 16, 2012·British Journal of Haematology·Susan E ShapiroAndrew D Mumford
Jul 18, 2019·European Journal of Haematology·Giancarlo CastamanPaolo Radossi
Oct 4, 2017·British Journal of Anaesthesia·E R StraussK A Tanaka

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