Literature DB >> 32948529

Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleeding.

Zaker I Schwabkey1, Farrell C Sheehan2, Courtney Bellomo2,3, Mihir Raval2,3.   

Abstract

A 26-year-old woman was found to have congenital dysfibrinogenaemia after presenting to our hospital with premature rupture of the membranes and vaginal bleeding. Given the absence of clear guidelines for the management of pregnancy complicated by dysfibrinogenaemia, we followed expert consensus that exists among published works, with some modifications. This case was managed by a multidisciplinary team of obstetrics-gynaecology, haematology and paediatric haematology. Here we review how the patient presented, the investigations that led to the diagnosis and the treatment options. © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Entities:  

Keywords:  genetics; haematology (incl blood transfusion); malignant and benign haematology; pregnancy

Mesh:

Substances:

Year:  2020        PMID: 32948529      PMCID: PMC7511613          DOI: 10.1136/bcr-2020-235961

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  20 in total

1.  Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia.

Authors:  Tomas Simurda; Jana Zolkova; Zuzana Kolkova; Dusan Loderer; Miroslava Dobrotova; Ingrid Skornova; Monika Brunclíkova; Marian Grendar; Zora Lasabova; Jan Stasko; Peter Kubisz
Journal:  Int J Hematol       Date:  2020-03-12       Impact factor: 2.490

2.  Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty.

Authors:  Tomas Simurda; Peter Kubisz; Miroslava Dobrotova; Libor Necas; Jan Stasko
Journal:  Semin Thromb Hemost       Date:  2016-07-29       Impact factor: 4.180

3.  Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).

Authors:  Tomas Simurda; Sonia Caccia; Rosanna Asselta; Jana Zolkova; Jan Stasko; Ingrid Skornova; Zuzana Snahnicanova; Dusan Loderer; Zora Lasabova; Peter Kubisz
Journal:  J Thromb Thrombolysis       Date:  2020-07       Impact factor: 2.300

4.  Natural history of patients with congenital dysfibrinogenemia.

Authors:  Alessandro Casini; Marc Blondon; Aurélien Lebreton; Jérémie Koegel; Véronique Tintillier; Emmanuel de Maistre; Philippe Gautier; Christine Biron; Marguerite Neerman-Arbez; Philippe de Moerloose
Journal:  Blood       Date:  2014-10-15       Impact factor: 22.113

5.  Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group.

Authors:  Rosa Santacroce; Filomena Cappucci; Daniela Pisanelli; Fabio Perricone; Maria Luisa Papa; Rita Santoro; Elvira Grandone; Maurizio Margaglione
Journal:  Blood Coagul Fibrinolysis       Date:  2006-06       Impact factor: 1.276

Review 6.  Rare inherited disorders of fibrinogen.

Authors:  S S Acharya; D M Dimichele
Journal:  Haemophilia       Date:  2008-11       Impact factor: 4.287

7.  Congenital hypofibrinogenemia and recurrent placental abruption.

Authors:  P M Ness; A Z Budzynski; S A Olexa; R Rodvien
Journal:  Obstet Gynecol       Date:  1983-04       Impact factor: 7.661

8.  High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension.

Authors:  Timothy A Morris; James J Marsh; Peter G Chiles; Marisa M Magaña; Ni-Cheng Liang; Xavier Soler; Daniel J Desantis; Debby Ngo; Virgil L Woods
Journal:  Blood       Date:  2009-05-06       Impact factor: 22.113

9.  The dilemma of inherited dysfibrinogenemia during pregnancy.

Authors:  Javier Munoz; Jessica Schering; Angela Lambing; Salena Neal; Gregory Goyert; Pooja M Green; Amr Hanbali; Sundara Raman; Philip Kuriakose
Journal:  Blood Coagul Fibrinolysis       Date:  2012-12       Impact factor: 1.276

Review 10.  Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.

Authors:  A Casini; M Neerman-Arbez; R A Ariëns; P de Moerloose
Journal:  J Thromb Haemost       Date:  2015-05-02       Impact factor: 5.824

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