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PubMed1988

Prophylactic cryoprecipitate in congenital afibrinogenemia.

Two siblings with congenital afibrinogenemia received prophylactic infusions of cryoprecipitate in order to prevent serious hemorrhage during early childhood. Three bags (units) of this fibrinogen-containing blood product were administered every 7-10 days for 15 months in one case and 24 months in the other. Hemorrhage was nearly completely prevented during the period of prophylaxis. Side effects from cryoprecipitate were not observed. Prophylactic infusion of cryoprecipitate, made practical by the relatively long half-life of fibrinogen, should be considered in other patients with this disorder.

Afibrinogenemia↗
PubMed2001

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.

Congenital afibrinogenemia is a rare coagulation disorder with autosomal recessive inheritance, characterized by the complete absence or extremely reduced levels of fibrinogen in patients' plasma and platelets. Eight afibrinogenemic probands, with very low plasma levels of immunoreactive fibrinogen were studied. Sequencing of the fibrinogen gene cluster of each proband disclosed 4 novel point mutations (1914C>G, 1193G>T, 1215delT, and 3075C>T) and 1 already reported (3192C>T). All mutations, localized within the first 4 exons of the A alpha-chain gene, were null mutations predicted to produce severely truncated A alpha-chains because of the presence of premature termination codons. Since premature termination codons are frequently known to affect the metabolism of the corresponding messenger RNAs (mRNAs), the degree of stability of each mutant mRNA was investigated. Cotransfection experiments with plasmids expressing the wild type and each of the mutant A alpha-chains, followed by RNA extraction and semiquantitative reverse-transcriptase-polymerase chain reaction analysis, demonstrated that all the identified null mutations escaped nonsense-mediated mRNA decay. Moreover, ex vivo analysis at the protein level demonstrated that the presence of each mutation was sufficient to abolish fibrinogen secretion.

Adult↗
PubMed2004

Hemi-spinal cord infarction due to vertebral artery dissection in congenital afibrinogenemia.

Isolated ischemia of the cervical spinal cord is an uncommon but increasingly recognized complication of vertebral artery dissection (VAD). The authors report a young patient with congenital afibrinogenemia, who developed VAD with extensive unilateral spinal cord infarction, probably caused by local compression of spinal radicular feeders at their origin by vertebral artery hematoma.

Adult↗
PubMed2005

Aortic valve repair in a patient with congenital afibrinogenemia.

We describe the management of cardiopulmonary bypass (CPB) in a patient with congenital afibrinogenemia (AF). Although this state is akin to the state after hirudin administration, where CPB has been successfully performed, heparinization is still essential to preserve other clotting factors and prevent excessive bleeding. Aprotinin further helps in preservation of clotting factors. There are case reports of thrombosis associated with AF, but aprotinin can be safely used because it is, by definition, an anticoagulant. Cryoprecipitate effectively restores the fibrinogen and produces normal clotting.

Adolescent↗
PubMed1981

Severe ovarian hemorrhage in congenital afibrinogenemia.

This is a case report of a patient with congenital afibrinogenemia and massive intra-abdominal bleeding from a ruptured corpus luteum cyst. None of the previously reported 100 cases mentioned obstetrical or gynecological complications associated with this rare entity.

Adult↗
PubMed1998

[Congenital afibrinogenemia].

The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.

Afibrinogenemia↗
PubMedDate not supplied

Platelet function by afibrinogenemia.

Platelet function was studied in two cases with congenital afibrinogenemia. In these two cases there was no aggregation by ADP, while, there was increased calcium-induced platelet aggregation and decreased platelet adhesiveness to glass. Platelet aggregation was corrected in vitro, by addition of fibrinogen. It can be concluded from the above findings that the fibrinogen is an important factor for platelet aggregation by ADP and for platelet adhesion to glass surfaces, while platelet aggregation by thrombin does not need fibrinogen. The increased calcium-induced aggregation can be explained by postulating that thrombin finds no substrate to act upon except the platelets.

Afibrinogenemia↗
PubMed2000

Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia.

The molecular basis of a novel congenital afibrinogenemia has been determined. The proposita, the only affected member in a consanguineous Norwegian family, suffers from a moderate to severe bleeding disorder due to the total absence of any detectable fibrinogen. Dot blots of solubilized platelets revealed a small amount of gamma chain but no A alpha or B beta chains, whereas no chains were detected in plasma dot blots. DNA sequencing of the A alpha chain gene revealed a homozygous C-->T transversion 557 nucleotides from the transcription initiation site. This nucleotide change predicts the nonsense mutation A alpha 149 Arg (CGA)-->stop (TGA). Early truncation of the A alpha chain appears to result in defective assembly or secretion of fibrinogen, probably due to the removal of the C-terminal disulfide ring residues that are critically required for the formation of a stable 3-chained half molecule. (Blood. 2000;96:773-775)

Adult↗
PubMed2000

A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene.

Congenital afibrinogenemia due to a novel homozygous nonsense mutation of the fibrinogen gamma-chain gene, fibrinogen Hakata, was found in an 18-year-old Japanese girl who had received supplemental fibrinogen therapy since she was 4 months old. The plasma fibrinogen concentrations of the proband were measured as less than 10 mg/dl by a functional method and less than 17 mg/dl by an immunological method. Fibrinogen concentrations of her family were in the range of 94-164 mg/dl. The proband and her family had no other clinical symptoms. Genomic DNA of the proband and her family was isolated from leukocytes, and all exons of fibrinogen subunits and their intron/exon boundaries were analyzed. A genetic mutation, a guanine-to-thymine (G-to-T) transversion at the nucleotide position of 5860, was identified on exon 7 of the gamma-chain gene. This mutation changed the codon for the 231st residue of the gamma-chain from GAG (Glu) to TAG (stop). No other mutation was observed. Aalpha, Bbeta and gamma chains were observed in plasma of the heterozygous family members. However, only a trace amount of Aalpha chain and no gamma chain was detected in the plasma of the proband.

Afibrinogenemia↗
PubMed2001

Absence of fibrinogen in afibrinogenemia results in large but loosely packed thrombi under flow conditions.

We studied the role of fibrinogen in platelet thrombus formation under flow on adhesive proteins using afibrinogenemic blood (LMWH anticoagulated) in a perfusion system. Perfusions with afibrinogenemic blood showed strong increased surface coverage and thrombus volume that normalized upon addition of fibrinogen. Similar studies using citrate anticoagulated blood showed that this was due to fibrinogen and not fibrin. Morphological analysis showed that afibrinogenemic thrombi were loosely packed and consisted mainly of dendritic platelets that contacted one another through filopodia. However, in the presence of fibrinogen, platelets formed lamellipodia and spread out on top of one another. Studies with radiolabeled platelets showed similar numbers of platelets in both conditions demonstrating that the difference is one of packing and the larger size is due to absence of lamellipodia formation and spreading. The found increased thrombus size and loosely packed platelets might help to understand thrombotic complications sometimes seen in afibrinogenemia patients.

Adult↗
PubMed1975

[4 cases of congenital afibrinogenemia (author's transl)].

Report on 4 members of one family with afibrinogenemia. 2 of them died of cerebral hemorrhage at the age of 10. The 2 surviving children are 8 and 10 years old. Plasmafibrinogen was determined in 69 members of the family. Only in the parents of 2 patients was plasmafibrinogen found to be slinghtly reduced. But in other members of the family fibrinogen was low. In our cases, too, the ADP induced aggregation of thrombocytes in plasma obtained with citrate was weaker than normal.

Adenosine Diphosphate↗
PubMedDate not supplied

Prevention of hemoperitoneum during ovulation by oral contraceptives in women with type III von Willebrand disease and afibrinogenemia. Case reports.

The follicle ruptures at the time of ovulation and fills with blood, forming a corpus hemorrhagicum. Minor bleeding from the follicle into the abdominal cavity may cause peritoneal irritation and, when it occurs in a patient with a defect of primary hemostasis, hemoperitoneum can occur. Von Willebrand disease and afibrinogenemia are two important bleeding disorders in which both primary hemostasis and coagulation are involved. Bleeding during ovulation is one major clinical complication in women with these disease. We have studied three patients with this hemorrhagic complication. Our data show that oral contraceptives are an effective way to avoid hemoperitoneum.

Adult↗
PubMed1991

Afibrinogenemia and hypobetalipoproteinemia in a kindred.

A 3-year-old boy with minor bleeding problems had no plasma fibrinogen measured by both clottable assay and immuno-precipitation. Low normal fibrinogen levels were present in the mother and father. Markedly decreased plasma cholesterol and apolipoprotein B levels were found in the father, proband's brother, and the paternal side of the kindred. The proband and his mother had normal plasma total cholesterol and apolipoprotein B levels. These findings are compatible with autosomal dominant transmission of hypobetalipoproteinemia and autosomal recessive transmission of afibrinogenemia. Two members of the father's family had plasma cholesterol levels below the fifth percentile but elevated levels of fibrinogen (6.0 and 4.4 g/L). Both have symptomatic coronary heart disease. Finding coronary heart disease with very low cholesterol but elevated fibrinogen levels is consistent with fibrinogen levels being an independent risk factor for coronary heart disease.

Adult↗
PubMed1984

Fibrinogenolytic afibrinogenemia after envenomation by western diamondback rattlesnake (Crotalus atrox).

The absence of fibrinogen and the presence of plasmic fragments X, Y, D, and E were demonstrated in a patient bitten by a western diamondback rattlesnake, Crotalus atrox. The factor VIII level and the platelet count were within normal limits. There were distinct changes of protease inhibitors in the patient's plasma. Alpha-1-protease inhibitor was elevated. Antithrombin-III was only slightly decreased after the envenomation, but alpha 2-antiplasmin and alpha 2-macroglobulin were initially significantly lowered, returning to normal values in 38 and 3 days, respectively. Plasmin-alpha 2-antiplasmin complex was present until day 10 after the envenomation. However, purified plasminogen was not activated in vitro by the venom. Cultured endothelial and smooth muscle cells from human blood vessels released an increased amount of plasminogen activator upon incubation with the venom. The release did not result from cell lysis. Platelets in normal human platelet-rich plasma were aggregated by 10 micrograms/ml of the venom, without serotonin secretion. The aggregation kinetics and serotonin secretion induced by adenosine diphosphate (ADP) or arachidonate were not significantly affected by the venom at 1-10 micrograms/ml. It is concluded that the predominant mechanism of afibrinogenemia in the patient after Crotalus atrox bite resulted from primary fibrinogenolysis and not from a consumptive coagulopathy. The lytic state seemed to be induced through an indirect activation of plasminogen by vascular plasminogen activator, which was probably released from endothelial cells and smooth muscle cells by the snake venom.

Adult↗
PubMed1993

Congenital afibrinogenemia in Hasan Sadikin Hospital.

A case of a 24-year-old male with congenital afibrinogenemia has been discussed. The diagnosis was made based upon history, physical examination, umbilical cord bleeding, bleeding history and similar cases were found being the patient's grandfather and brother. Laboratory tests supported the diagnosis with a prolonged bleeding time, prothrombin time (PT), undetected partial thromboplastin time (PTT), flat line on thromboelastogram, and undetected fibrinogen (less than 78 mg/dl), with substitution test which showed fibrinogen deficiency.

Adult↗
PubMed1997

Dysfibrinogenemia or afibrinogenemia in a Border Leicester lamb.

Hereditary fibrinogen deficiency is a rare condition in all species. Measurement of plasma fibrinogen should indicate low levels. Specific factor assays and pedigree analysis are essential in establishing a definitive diagnosis of the hereditary deficiency. Differentiation between afibrinogenemia, hypofibrinogenemia, and dysfibrinogenemia requires sophisticated techniques and assistance from a specialized laboratory.

Afibrinogenemia↗