AFIBRINOGENEMIYA (Greek a-otrits. + fibrinogen + Greek haima blood; synonym hereditary afibrinogenemiya) — the rare heredo-familial disease from group of hemorrhagic diathesis which is characterized by bleeding connected with inborn lack of fibrinogen. It is for the first time described the Slave and Zalomon (F. Rabe, E. Salomon, 1920), established lack of fibrinogen in blood of the 9-year-old boy, hemorrhagic diathesis at to-rogo in the beginning treated as hemophilia (see). The same authors made a hypothesis of hereditary character And., as parents of the patient were in a consanguineous relation.
The statistics is not developed; only 70 cases are described And. [Ingram (G. J. C. Jngram, 1974)].
the Disease hereditary, is inherited on autosomal recessively type [G. Schönholzer] and observed at homozygous persons. The asymptomatic hypofibrinogenemia — a so-called constitutional fibrinopenia [E. Risak] is found in heterozygous or, or the fibrinogenopenia does not come to light that is explained, apparently, by small expressivity of the corresponding gene.
the Pathogeny of bleeding at And. it is connected with disturbance of the third phase of process of a blood coagulation owing to lack of fibrinogen (see. Coagulant system of blood ). However bleeding at And. it is usually moderately expressed even at total absence of fibrinogen that connect with active agglutination of thrombocytes and formation of platelet blood clots thanks to safety of the thrombin which is not adsorbed, as usual, by threads of fibrin. Well also the vascular mechanism of primary hemostasis functions.
Pathological anatomy it is not specific; there are instructions on increase in the sizes of a liver without disturbance of its structure.
The clinical picture
the Clinical picture is characterized by bleeding at small scratches, the extraction of tooth etc. which is shown at early children's age; quite often in the period of a neonatality umbilical bleedings, bleedings after ritual operations, a melena of newborns, etc. are observed. Spontaneous hemorrhages are rare. Approximately at Vs patients a hemarthrosis which, unlike gemofilichesky, is not complicated by an anchylosis of a joint are described. Pressing soft tissues can cause a hematoma, but without necrosis on the periphery (difference from hemophilia). The hamaturia is not described. Bleeding at And. seldom reaches big intensity and with age usually abates. There are, however, descriptions of fatal brain hemorrhages, approximately for 10% of patients. At many women, patients And., periods are normal. Sometimes at patients And. there is an intravascular blood coagulation with the subsequent reduction of quantity of thrombocytes and a number of pro-coagulants.
the Diagnosis is confirmed by the laboratory research finding lack of fibrinogen in a blood plasma. Sometimes the weight method in blood of patients find traces of fibrinogen. However more reliable immunoelectrophoretic research of a precipitation line with the corresponding antiserum reveals lack of fibrinogen. R. Elbring, etc. carry And. to group of defektoproteinemiya. Laboratory samples reveal a full incoagulability of blood, not korrigiruyemy addition of neither thrombin, nor thromboplastin, but normalized at addition of normal plasma or solution of fibrinogen. Time of all laboratory tests based on formation of a fibrinous clot (see. Koagulogramma ) — coagulation of whole blood, rekaltsifitsirovanny plasma, prothrombin and thrombin time, etc., is infinitely extended. Tromboelastogramma has an appearance of a straight line (see. Tromboelastografiya ). Other tests applied to a research of a hemostasis yield normal results. Bleeding time (see) it is quite often moderately extended. Unlike the hyperheparinemia which is also followed by an incoagulability of blood, addition of protamin of sulfate or a toluidine blue does not normalize coagulation. From the acquired hypofibrinogenemias And. it is possible to differentiate on the basis of the anamnesis, total absence of fibrinogen and a blood coagulation; at patients with hemophilia, unlike patients. And., the content of fibrinogen in blood normal, a blood coagulation, though in late terms, nevertheless comes.
At heterozygous relatives of the patient A. the hypofibrinogenemia inherited on autosomal dominantly type is found, edges can proceed asymptomatically or be followed by moderate bleeding, sometimes thromboembolisms, bad healing of wounds. The heredo-familial dysfibrinogenemia is described (a synonym: a fibrinasteniya, a fibrinopatiya, a parafibrinogenemia), differing in the content in blood of abnormal fibrinogen.
And., as well as all hereditary diseases, it is incurable. Before development of a method of receiving and transfusion of fibrinogen mortality was high. In a crust, time danger of heavy or fatal bleedings is small, especially on a minovaniya of children's age. A serious threat is posed by acute infections owing to decrease in protective forces of an organism, just as at agammaglobulinemias (see).
Treatment symptomatic, replaceable. Quite often bleeding can be stopped, having pressed or having cooled the bleeding site. The Bystry haemo static effect is reached by transfusion of drug fibrinogen (see) or the transfusion environments supporting him — fresh plasma and whole blood. Transfusions of concentrates of fibrinogen or fraction I are reasonable (according to Kohn). Bleeding stops after exceeding of so-called threshold concentration of fibrinogen in blood (50 mg of %). The poured fibrinogen circulates in blood of the recipient of 10 — 18 days, but for the first 2 — 4 days its concentration decreases half. Transfusions are shown at a preparation for surgery and at the accompanying infectious diseases. After repeated transfusions antibody formation to fibrinogen is possible that can neutralize effect of the subsequent transfusions. Approximately at 15% of patients of a transfusion of fibrinogen are followed by allergic and feverish reactions. Three cases of a fatal pulmonary embolism after repeated transfusions of fibrinogen are described. The possible reasons of these embolisms consider existence in drug of fibrinogen of impurity of thrombin, activation of aggregation of thrombocytes fibrinogen, immunoprecipitation of fibrinogen antibodies.
Prevention comes down to an explanation of undesirability of marriages between blood relatives of the patient which can be heterozygous carriers of defect.
Bibliography: Abezgauz A. M. Hemorrhagic diseases at children, page 176, L., 1970, bibliogr.; Kassirsky I. A. and Alekseev G. A. Clinical hematology, page 635, M., 1970; La in to about-vich V. and Krzheminska-lavas-to about in and the p I. Hematology of children's age, the lane with polsk., page 337, Warsaw, 1964, bibliogr.; Round A. F. Gematologiya of children's age, JI., 1963, bibliogr.; Allibone E. S. and. In aa of H. S. Fibrinogen deficiency as a factor in haemo-rrhagic disease, Arch. Dis. Childh., v. 18, p. 146, 1943, bibliogr.; In r ö η n imann R. Kongenitale Afibrinogenämie, Acta haemat. (Basel), Bd 11, S. 40, 1954 * E g b r i n g R. u. a. Diagnostische und therapeutische Probleme bei kongenitaler Afibrinogenämie, Blut, Bd 22, S. 175, 1971, Bibliogr.; Girolami A., Venturelli R. u. Baraggi G. A report of a case of congenital afibrinogenemia, ibid., Bd 24, S. 23, 1972, Bibliogr.; Quick A. J. Hemorrhagic diseases and thrombosis, Philadelphia, 1966; Rabe F. u. Salomon E. Über Faserstoffmangel im Blute bei einem Falle von Hämophilie, Dtsch. Arch. klin. Med., Bd 132, S. 240, 1920; Schönholzer G. Die hereditäre Fibrinogenopenie, ibid., Bd 184, S. 496, 1939; Stefanini M. Dame-s h e k W. The hemorrhagic disorders, N. Y., 1962.
Yu. I. Loriye.