Document Detail

Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group.
MedLine Citation:
PMID:  16651864     Owner:  NLM     Status:  MEDLINE    
Inherited abnormalities of fibrinogen present a high variability in penetrance and expressivity, and clinical manifestations vary from severe bleeding or thrombosis to asymptomatic This variability makes clinical and genetic counseling more difficult. We report the experience of a clinical group working in specialist centers in Southern Italy on a series of consecutive patients presenting with congenital abnormalities of fibrinogen. Over 10 years, 18 patients were diagnosed to carry a congenital abnormality of fibrinogen. These patients and 26 first-degree relatives were investigated in-depth to fully characterize the nature of their abnormal fibrinogen levels. A gene mutation was identified in 15 patients (four afibrinogenemic patients, three hypofibrinogenemic patients, and eight dysfibrinogenemic patients). A new mutation was found in four of them: Aalpha Arg159Stop in one afibrinogenemic patient, Aalpha Arg104Cys in two hypofibrinogenemic patients, and Aalpha Pro270Thr in one dysfibrinogenemic patient. While all afibrinogenemic patients had clinically important bleeding, participants presenting with hypofibrinogenemia remained asymptomatic. In the presence of the synthesis of an abnormal molecule, the clinical phenotype was not strictly related to plasma fibrinogen levels but was associated with the molecular defect, most carriers remaining asymptomatic. Personal and family histories of bleeding and thrombosis are important for the clinical management of patients presenting with congenital abnormalities of fibrinogen. Biochemical and genetic investigations may be a useful guide for decision-making, providing additional steps in the assessment of the risk of patients presenting with low levels of a normal molecule (hypofibrinogenemia and afibrinogenemia) and with an abnormal molecule (dysfibrinogenemia), respectively.
Rosa Santacroce; Filomena Cappucci; Daniela Pisanelli; Fabio Perricone; Maria Luisa Papa; Rita Santoro; Elvira Grandone; Maurizio Margaglione
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis     Volume:  17     ISSN:  0957-5235     ISO Abbreviation:  Blood Coagul. Fibrinolysis     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-02     Completed Date:  2007-12-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9102551     Medline TA:  Blood Coagul Fibrinolysis     Country:  England    
Other Details:
Languages:  eng     Pagination:  235-40     Citation Subset:  IM    
Genetica Medica, Dipartimento di Scienze Biomediche, Università di Foggia, Italy.
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MeSH Terms
Afibrinogenemia / blood,  diagnosis,  genetics*
Amino Acid Substitution
Blood Coagulation Disorders, Inherited / blood,  diagnosis,  genetics*
Child, Preschool
Fibrinogen / genetics*
Italy / epidemiology
Middle Aged
Point Mutation
Reverse Transcriptase Polymerase Chain Reaction / methods
Reg. No./Substance:

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