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At least 937 records · Page 52Linked to original sources
PubMed1995

Severe hypofibrinogenemia associated with bilateral ischemic necrosis of toes and fingers.

Severe hypofibrinogenemia was found in an Algerian woman who, since the age of 37 years, suffered three different episodes of ischemic necrosis of the toes and fingers leading to amputation of the toes and surgical removal of necrotic tissue (necretomy). No anti-fibrinogen antibody was present. The deficiency appeared to be due to severe congenital hypofibrinogenemia since the fibrinogen level remained at the same low level over a long period, without any abnormality of other coagulation proteins. The thrombotic events may be explained by the increased thrombin generation observed in the patient's plasma, due to the lack of thrombin adsorption onto a fibrin net.

Adult↗
PubMed1996

A proposed model to monitor heparin therapy using the concentrated thrombin time which allows standardisation of reagents and improved estimation of heparin concentrations.

The concentrated thrombin time (CTT), a thrombin time performed with a high concentration of thrombin, was evaluated as an alternative to the activated partial thromboplastin time (APTT) for monitoring of heparin therapy. Forty-nine plasmas from patients receiving unfractionated heparin therapy were tested. It was first demonstrated that CTTs using three commercial reagents could be standardised against CTTs performed with a reference reagent, MRC reagent 66/305. For comparison, APTTs were performed on the plasmas. As a benchmark of the degree of heparinisation, the heparin concentration of the plasmas was determined by chromogenic anti-IIa heparin assays, therapeutic range being 0.2-0.4 units/ml. The optimal relationships of the CTTs and APTT with the heparin concentration were established. These were used to predict the heparin concentrations of the plasmas from the results of the APTT, CTT performed with the reference reagent, and transformed CTT performed with each of the three commercial reagents. In predicting the assayed plasma heparin concentrations, the accuracy of the APTT was only 53%, while the CTT was from 78 to 82%. The CTT can be standardised and, subject to results of clinical trials, could provide an improved method of monitoring heparin therapy.

Afibrinogenemia↗
PubMed1998

Hyperfibrinogenolysis in disseminated adenocarcinoma.

We present the case of a 42-year-old woman with a recently acquired bleeding tendency. Coagulation studies and response to antifibrinolytic therapy suggested primary hyperfibrinogenolysis: markedly low levels of fibrinogen and alpha2-antiplasmin, normal levels of antithrombin III, protein C and protein S combined with an only borderline low number of platelets without evidence of microangiopathic haemolytic anaemia. A suspected causative adenocarcinoma of the lung was demonstrated. She was treated successfully with tranexamic acid and cryoprecipitate, until the tumor progressed and hyperfibrinogenolysis progressed to diffuse intravascular coagulation. Differential diagnosis of these coagulation disorders, with similar etiology, clinical and laboratory findings is reviewed. Therapeutic implications are discussed.

Adenocarcinoma↗
PubMed1983

Thrombocytopenia and hypofibrinogenemia in association with inflammatory bowel disease.

There are many extra-intestinal manifestations of inflammatory bowel disease (IBD), some which are very uncommon in the pediatric age group. Coagulation abnormalities occur infrequently. Both hypercoagulability and hypocoagulability have been reported in adults (1). The hypercoagulable state is reflected in a general increase in concentration of clotting factors. This is observed most frequently in patients with poorly controlled intestinal disease and can lead to thromboembolic phenomena, including pulmonary and cerebral embolism. Conversely, patients with hypocoagulability may present with bleeding manifestations. We report a young patient with an abnormal coagulation profile as well as with thrombocytopenia in association with IBD.

Afibrinogenemia↗
PubMed1980

Platelet abnormalities associated with massive autotransfusion.

Although hemostatic defects have been reported with large-volume autotransfusion, the effect on platelet function has not been well defined. Twenty adult mongrel dogs underwent controlled intraperitoneal hemorrhage with collection and reinfusion using the Sorenson System. Each animal was autotransfused twice its E.B.V. over a 4-hour period. A.C.D., delivered at the sucker tip, served as the only anticoagulant. Mean arterial pressure and cardiac output remained stable during the study period with the additional volume support of 50 cc/kg Ringer's lactate. A moderate consumptive coagulopathy ensued. The P.T., P.T.T., and T.C.T. were all significantly prolonged, with a decrease in fibrinogen at 4 hours compared to baseline. Platelet counts fell significantly to 71% of baseline. In addition, platelet aggregation response to A.D.P. and collagen was markedly depressed, with corresponding prolongation in bleeding times at 4 hours. Twenty-four hours following autotransfusion the P.T., P.T.T., T.C.T., and fibrinogen levels returned toward normal. In contrast, the platelet counts continued to fall and the aggregation response remained markedly impaired. Methylprednisolone (30 mg/kg), administered to 10 animals, had no statistically significant effect on the coagulation parameters.

Afibrinogenemia↗
PubMed1989

Congenital hypofibrinogenemia in pregnancy.

A new case of congenital hypofibrinogenemia in pregnancy is reported and the literature is reviewed from an obstetric perspective. An association with spontaneous abortion, abruption, and postpartum hemorrhage is documented and management options are presented.

Abortion, Spontaneous↗
PubMed1997

Congenital dysfibrinogenemia.

Fibrinogen abnormalities can be classified as congenital or acquired. Each class manifests quantitative or qualitative alterations; the latter are known as dysfibrinogenemias. In dysfibrinogenemias, structural defects cause alterations in the conversion of fibrinogen to fibrin. Approximately 300 abnormal fibrinogens have been reported, and about 83 structural defects have been identified. The most common structural defect involve the fibrinopeptides and their cleavage sites, and the second most common involves the gamma-chain polymerization region. Approximately half of the mutants are clinically silent, whereas hemorrhage and thrombosis occur in almost equal numbers of cases. Study of the abnormal fibrinogens has provided insight into fibrinogen structure and fibrin formation and dissolution. Some of the structural abnormalities exhibit defective assembly and activation of components of the fibrinolytic system on the abnormal fibrin, resulting in impaired dissolution of fibrin, clinically associated with thrombosis.

Afibrinogenemia↗
PubMed2003

Molecular basis of congenital afibrinogenaemia in a Dutch family.

Congenital afibrinogenaemia is a rare autosomal recessive disorder characterized by complete absence or trace amounts of fibrinogen. Here we report the identification of the molecular defect underlying afibrinogenaemia in a Dutch patient. DNA sequence analysis of the fibrinogen Aalpha, Bbeta and gamma-genes revealed a homozygous deletion of two adenines between nucleotides 3120 and 3122 in exon 4 of the gene coding for the Aalpha-chain. This deletion results in a frameshift with a predicted premature end of translation at codon 140. This is the first report of a patient homozygous for this rare mutation associated with afibrinogenaemia.

Adult↗
PubMed2003

Fibrinogen Poissy II (gammaN361K): a novel dysfibrinogenemia associated with defective polymerization and peptide B release.

A fibrinogen variant was identified in a pregnant patient with disseminated intravascular coagulation and abruptio placentae. This dysfibrinogen was also found in four asymptomatic members of the patient's family. Coagulation studies showed prolongation of both the thrombin and reptilase times, and discrepancy was noted between the levels of plasma fibrinogen as determined by a kinetic versus an immunological determination or light-scattering assay. Studies on purified fibrinogen revealed an impaired release of fibrinopeptide B by thrombin related to a delayed thrombin-induced fibrin polymerization. DNA sequencing revealed a heterozygous T <-- A point mutation in position 9373 of the gamma-chain gene (exon 9), which substituted a K for an N at position 361.

Abruptio Placentae↗
PubMed2005

A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia.

Congenital afibrinogenaemia is a rare autosomal recessive coagulation disorder. Here we describe the genetic defect in the fibrinogen A alpha-chain underlying afibrinogenaemia in a Chinese family. The proposita had a life-long bleeding tendency, both her parents and paternal grandparents had a consanguineous marriage. The blood-clotting indices of the proposita and her father were prolonged, and their functional and immunologic fibrinogen was absent. To identify the mutations of fibrinogen genes in this family, all the exons and exon-intron boundaries of the three fibrinogen genes (FGA, FGB, FGG) were amplified by polymerase chain reaction, and direct sequencing of polymerase chain reaction products was performed, then the restriction endonuclease (RsaI) analysis was used to confirm the mutation. A homozygous C --> T mutation was found at nucleotide 3108 in exon 4 of the FGA gene of the proposita and her father; it is a null mutation predicting to produce severely truncated A alpha-chains because of the presence of premature termination at the Gln 150 codon (or truncated at the 131 residues according to the mature A alpha-chain). Her mother and some other family members were heterozygous. The g.3108C --> T (Gln150 --> stop) nonsense mutation in the FGA gene is a novel genetic defect of congenital afibrinogenaemia that, to our knowledge, has not been described previously.

Adolescent↗
PubMed2006

Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.

Congenital hypofibrinogenemia is a rare disorder caused by a number of different mutations in the fibrinogen genes. The aim of the study was the elucidation of molecular defects in two unrelated families with hypofibrinogenemia. DNA samples from the patients were screened for mutations in the fibrinogen genes by direct sequencing of polymerase chain reaction-amplified gene segments. Isolated plasma fibrinogen was studied by sodium dodecyl sulfate electrophoresis and electrospray ionization mass spectrometry in order to detect variant polypeptides. Fibrin polymerization was analyzed both in plasma and using purified fibrinogen samples. A novel mutation in the FGG gene (G7590A) was found in all patients from the two families with hypofibrinogenemia. This mutation causes the amino acid exchange 313 Ser-->Asn in the gamma chain. When plasma fibrinogen from a heterozygous individual was analyzed for the presence of variant gamma chains by reverse-phase high-performance liquid chromatography and electrospray ionization mass spectrometry, only normal gamma chains could be detected. The molecular defect affecting an evolutionary highly conserved amino acid residue in human fibrinogen interferes with plasma expression of the variant molecules and is causative for the observed hypofibrinogenemic phenotype.

Adolescent↗