scholarly journals A Still Rare Case of Congenital Afibrinogenemia

Congenital afibrinogenemia is characterized by the decrease or the absence of fibrinogen synthesis. It is a rare pathology that is transmitted autosomal recessive mode, with variable clinical demonstrations. The biological diagnosis consists in the presence of traces or absence of fibrogen with blood incoagulability. The coverage of this disease bases itself on the preventive treatment and replacement therapy based on fresh frozen plasma or fibrinogen concentrate. Through this case, we recall the various aspects of these rare condition clinical, biological, genetical as well as therapeutic plans.

2013 ◽  
Vol 131 (5) ◽  
pp. e210-e213 ◽  
Author(s):  
Christian Fenger-Eriksen ◽  
Kirsten Christiansen ◽  
John Laurie ◽  
Benny Sørensen ◽  
Catherine Rea

2008 ◽  
Vol 106 (5) ◽  
pp. 1360-1365 ◽  
Author(s):  
Thorsten Haas ◽  
Dietmar Fries ◽  
Corinna Velik-Salchner ◽  
Christian Reif ◽  
Anton Klingler ◽  
...  

2012 ◽  
Vol 19 (4) ◽  
pp. 453-459 ◽  
Author(s):  
Bernhard Ziegler ◽  
Christa Schimke ◽  
Peter Marchet ◽  
Birgit Stögermüller ◽  
Herbert Schöchl ◽  
...  

Critical Care ◽  
2011 ◽  
Vol 15 (5) ◽  
pp. R239 ◽  
Author(s):  
Sibylle Kozek-Langenecker ◽  
Benny Sørensen ◽  
John R Hess ◽  
Donat R Spahn

Author(s):  
Abdul Tawab ◽  
Madhu George ◽  
Jino Joseph ◽  
Ann Mary Zacharias

Congenital protein C deficiency presenting as purpura fulminans is a rare condition in neonates. It is a disorder with autosomal recessive inheritance and is caused by homozygous or compound heterozygous mutations in PROC gene. The authors report a case of autosomal homozygous PROC gene transversion mutation in a newborn baby born to third degree consanguineous parents who presented as purpura fulminans at birth. She had almost undetectable protein C levels. As protein C concentrate was not readily available, she was managed with low molecular weight heparin along with fresh frozen plasma. Despite our best efforts, baby succumbed to her illness on day 21 of life.  Autosomal recessive protein C deficiency should always be sought as an explanation for thrombotic disorders in the newborn with manifestations of disseminated intravascular coagulation.


2021 ◽  
Author(s):  
Minakshi Rohilla ◽  
Rakhi Rai ◽  
Jasmina Ahluwalia ◽  
Pankaj Malhotra ◽  
Vanita Jain

Abstract Inherited factor VII deficiency is an autosomal recessive coagulation disorder with broad range of bleeding manifestations. The association between bleeding and absolute factor VII level is poor. Usually, the bleeding is associated with FVII levels of less than 1% of the normal value. Factor VII deficiency is associated with prolongation of prothrombin time only with normal activated partial thromboplastin time. Approximately 66 pregnant women have been reported with factor VII deficiency so far in English literature. We hereby, report 2 cases along with the review of literature of Factor VII deficiency during pregnancy. Our patients were diagnosed to have factor VII deficiency after deranged coagulogram with factor VII level of < 1% and 17.1% respectively, however could be managed by fresh frozen plasma only in first case and fresh frozen plasma & factor VII concentrate in second case successfully. Coagulogram is a simple, easily available, affordable and lifesaving investigation to detect this deficiency in pregnancy.


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