Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report.

Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop complications including episodes of arterial and venous thrombosis. It can be useful to complete the laboratory assessment of these clinical conditions with the evaluation of the haemorheological profile. The data obtained from this study showed that congenital afibrinogenemia was characterized by a primary plasma hypoviscosity, whereas congenital dysfibrinogenemia by a primary plasma hyperviscosity. Both these haemorheological alterations may concur, with different mechanisms, to the pathogenesis of thrombotic vascular complications.

[1]  J. Thachil,et al.  Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH , 2018, Journal of thrombosis and haemostasis : JTH.

[2]  B. Lämmle,et al.  Thromboembolism in patients with congenital afibrinogenaemia , 2016, Thrombosis and Haemostasis.

[3]  C. Santoro,et al.  Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma , 2016, Seminars in Thrombosis & Hemostasis.

[4]  A. Casini,et al.  Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders , 2016, Seminars in Thrombosis & Hemostasis.

[5]  U. Seligsohn,et al.  Thromboembolic events in patients with severe inherited fibrinogen deficiency , 2016, Journal of Thrombosis and Thrombolysis.

[6]  K. Ghosh,et al.  Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen Mumbai mutation. , 2015, American journal of clinical pathology.

[7]  E. Yılmaz,et al.  A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. , 2015, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

[8]  A. Lebreton,et al.  Natural history of patients with congenital dysfibrinogenemia. , 2015, Blood.

[9]  P. Raffaele,et al.  Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature , 2015 .

[10]  J. Abe,et al.  Novel Mechanisms of Endothelial Mechanotransduction , 2014, Arteriosclerosis, thrombosis, and vascular biology.

[11]  S. Patra,et al.  Recurrent Myocardial Infarction in a Case of Congenital Afibrinogenemia , 2014, Heart views : the official journal of the Gulf Heart Association.

[12]  S. Chien,et al.  Shear stress-initiated signaling and its regulation of endothelial function. , 2014, Arteriosclerosis, thrombosis, and vascular biology.

[13]  M. Nakagawa,et al.  A case of acquired dysfibrinogenemia in multiple myeloma treated with therapeutic plasma exchange. , 2013, Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis.

[14]  M. Laffan,et al.  Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia , 2013, British journal of haematology.

[15]  F. Mghaieth,et al.  Acute myocardial infarction in a patient with hypofibrinogenemia: a case report , 2011, Journal of medical case reports.

[16]  K. Tziomalos,et al.  Treatment of congenital fibrinogen deficiency: overview and recent findings , 2009, Vascular health and risk management.

[17]  S. Acharya,et al.  Rare inherited disorders of fibrinogen , 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

[18]  P. Salaj,et al.  Acquired Dysfibrinogenemia Secondary to Multiple Myeloma , 2008, Acta Haematologica.

[19]  G. Dolan,et al.  Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias , 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

[20]  N. Garg,et al.  Afibrinogenaemia: a rare cause of young myocardial infarct. , 2008, Singapore medical journal.

[21]  D. Buerk,et al.  Elevated plasma viscosity in extreme hemodilution increases perivascular nitric oxide concentration and microvascular perfusion. , 2005, American journal of physiology. Heart and circulatory physiology.

[22]  D. Dimichele,et al.  Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias , 2004, Journal of thrombosis and haemostasis : JTH.

[23]  W. Korte,et al.  Increased prothrombin activation in a patient with congenital afibrinogenemia is reversible by fibrinogen substitution , 1994, The clinical investigator.

[24]  T. Gori,et al.  Endothelium and hemorheology. , 2013, Clinical hemorheology and microcirculation.

[25]  M W Rampling,et al.  Influence of cell-specific factors on red blood cell aggregation. , 2004, Biorheology.

[26]  M. Mosesson Antithrombin I. Inhibition of thrombin generation in plasma by fibrin formation , 2003, Thrombosis and Haemostasis.

[27]  P. Mannucci,et al.  Rare coagulation deficiencies , 2002, Haemophilia : the official journal of the World Federation of Hemophilia.

[28]  T. Stinchcombe,et al.  The dysfibrinogenaemias , 2001, British journal of haematology.

[29]  K. Siebenlist,et al.  The Structure and Biological Features of Fibrinogen and Fibrin , 2001, Annals of the New York Academy of Sciences.

[30]  M. Hanss,et al.  A Database for Human Fibrinogen Variants , 2001, Annals of the New York Academy of Sciences.

[31]  J. Sixma,et al.  Absence of Fibrinogen in Afibrinogenemia Results in Large but Loosely Packed Thrombi under Flow Conditions , 2001, Thrombosis and Haemostasis.

[32]  M. Mosesson,et al.  Dysfibrinogenemia and Thrombosis , 1999, Seminars in thrombosis and hemostasis.

[33]  P. Léger,et al.  Erythrocyte hyperaggregation and thrombogenic dysfibrinogenemia. , 1998, Clinical hemorheology and microcirculation.

[34]  L. J. Lis,et al.  Digital ischemia and gangrene due to red blood cell aggregation induced by acquired dysfibrinogenemia. , 1997, Journal of vascular surgery.

[35]  Aj Lee The role of rheological and haemostatic factors in hypertension , 1997, Journal of Human Hypertension.

[36]  H J Meiselman,et al.  Contribution of red blood cell aggregation to venous vascular resistance in skeletal muscle. , 1997, The American journal of physiology.

[37]  F. Jung,et al.  Haemostatical and rheological aspects of dysfibrinogenemia. , 1997, Clinical hemorheology and microcirculation.

[38]  T. Terao,et al.  Congenital afibrinogenemia with successful delivery. , 1996, Gynecologic and obstetric investigation.

[39]  U. Heinzmann,et al.  Effect of Fibrinogen Substitution in Afibrinogenemia on Hemorheology and Platelet Function , 1995, Thrombosis and Haemostasis.

[40]  H. Al-Mondhiry,et al.  Congenital afibrinogenemia , 1994, American journal of hematology.

[41]  J. Paramo,et al.  Role of sialic acid in acquired dysfibrinogenemia associated with liver cirrhosis , 1986, La Ricerca in clinica e in laboratorio.

[42]  R. Flore,et al.  Blood and plasma viscosity in experimentally induced hyper- and hypo-fibrinogenaemia. , 1986, International journal of tissue reactions.

[43]  J. Martinez,et al.  The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains. , 1983, Blood.

[44]  J. Martinez,et al.  Abnormal sialic acid content of the dysfibrinogenemia associated with liver disease. , 1978, The Journal of clinical investigation.

[45]  P. Straub,et al.  [The effect of low fibrinogen concentrations on human blood viscosity]. , 1977, Schweizerische medizinische Wochenschrift.