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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy

Niwa, Kenji Nagata, Kentaro Nakagami, Takefumi Shimaoka, Ryuichiro Niwa, Kentaro Takenaka, Motoki Tanaka, Takuji Okumura, Nobuo 信州大学 DOI:10.4236/crcm.2021.104013

2022.01.04

概要

Congenital fibrinogen disorders comprise two classes of plasma fibrinogen (Fbg) defects: type I, afibrinogenemia or hypofibrinogenemia; and type II, dysfibrinogenemia or hypodysfibrinogenemia, in which there are normal or reduced antigen levels associated with disproportionately low functional activity (qualitative fibrinogen deficiencies) [1] [2]. The first patient of congenital dysfibrinogenemia (CD) was recognized in 1955 [3] and the point mutation was reported in Fbg Detroit I in 1968 [4]. Since then, more than 100 mutations and 400 families have been reported [1] [2]. About 20% of fibrinogen gene mutations are known to be responsible for thrombosis [5].

Patients with CD might be identified during the clinical investigation of bleeding [6] or thrombosis [7], or following miscarriage [8]. However, most patients are asymptomatic and are usually discovered by the findings of prolongation of routine parameters of coagulation, such as prothrombin time (PT) and activated partial thromboplastin time (APTT) [9]. The majority of propositi of CD had an incidental diagnosis [10] [11]. CD is usually suspected if there is a discrepancy between clottable and immunologic fibrinogen levels.

We report here an asymptomatic CD case with γ275 Arg to His (CGC to CAC) mutation, presented with massive hematomas formed soon after an abdominal hysterectomy,

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参考文献

[1] de Moerloose, P., Casini, A. and Neerman-Arbez, M. (2013) Congenital Fibrinogen Disorders: An Update. Seminars in Thrombosis and Hemostasis, 39, 585-595. https://doi.org/10.1055/s-0033-1349222

[2] Neerman-Arbez, M. and Casini, A. (2018) Clinical Consequences and Molecular Bases of Low Fibrinogen Levels. International Journal of Molecular Sciences, 19, 192. https://doi.org/10.3390/ijms19010192

[3] Ingram, G.I. (1955) Variations in the Reaction between Thrombin and Fibrinogen and Their Effect on the Prothrombin Time. Journal of Clinical Pathology, 8, 318-323. https://doi.org/10.1136/jcp.8.4.318

[4] Blomback, M., Blomback, B., Mammen, E.F. and Prasad, A.S. (1968) Fibrinogen Detroit—A Molecular Defect in the N-Terminal Disulphide Knot of Human Fibri- nogen? Nature, 218, 134-137. https://doi.org/10.1038/218134a0

[5] Yoshida, S., Kibe, T., Matsubara, R., Koizumi, S.I., Nara, K., Amano, K. and Oku- mura, N. (2017) Congenital Dysfibrinogenemia in a Japanese Family with Fibrino- gen Naples (BβAla68Thr) Manifesting as Superior Sagittal Sinus Thrombosis. Blood Coagulation and Fibrinolysis, 28, 580-584. https://doi.org/10.1097/MBC.0000000000000641

[6] Brennan, S.O., Mosesson, M.W., Lowen, R. and Frantz, C. (2006) Dysfibrinogene- mia (Fibrinogen Wilmington) Due to a Novel Αα Chain Truncation Causing De- creased Plasma Expression and Impaired Fibrin Polymerization. Thrombosis and Haemostasis, 96, 88-89. https://doi.org/10.1160/TH05-11-0749

[7] de Raucourt, E., Fischer, A.M., Meyer, G. and de Mazancourt, P. (2006) A Bβ 14 Arg→Cys Fibrinogen Variant in a Patient with Thrombotic Complications (Fibri- nogen St-Germain III). Journal of Thrombosis and Haemostasis, 4, 2722-2723. https://doi.org/10.1111/j.1538-7836.2006.02240.x

[8] Dempfle, C.E., George, P.M., Borggrefe, M., Neumaier, M. and Brennan, S.O. (2009) Demonstration of Heterodimeric Fibrinogen Molecules Partially Conjugated with Albumin in a Novel Dysfibrinogen: Fibrinogen Mannheim V. Thrombosis and Haemostasis, 102, 29-34. https://doi.org/10.1160/TH08-09-0559 K. Niwa et al.

[9] Cunningham, M.T., Brandt, J.T., Laposata, M. and Olson, J.D. (2002) Laboratory Diagnosis of Dysfibrinogenemia. Archives of Pathology & Laboratory Medicine, 126, 499-505. https://doi.org/10.5858/2002-126-0499-LDOD

[10] Casini, A., Blondon, M., Lebreton, A., Koegel, J., Tintillier, V., de Maistre, E., Gautier, P., Biron, C., Neerman-Arbez, M. and de Moerloose, P. (2015) Natural History of Patients with Congenital Dysfibrinogenemia. Blood, 125, 553-561. https://doi.org/10.1182/blood-2014-06-582866

[11] Casini, A., Neerman-Arbez, M., Ariens, R.A. and de Moerloose, P. (2015) Dysfibri- nogenemia: From Molecular Anomalies to Clinical Manifestations and Manage- ment. Journal of Thrombosis and Haemostasis, 13, 909-919. https://doi.org/10.1111/jth.12916

[12] Anggraeni, T.D., Al Fattah, A.N. and Surya, R. (2018) Prophylactic Salpingectomy and Ovarian Cancer: An Evidence-Based Analysis. South Asian Journal of Cancer, 7, 42-45. https://doi.org/10.4103/sajc.sajc_187_17

[13] Yoda, M., Kaido, T., Taira, C., Higuchi, Y., Arai, S. and Okumura, N. (2020) Con- genital Fibrinogen Disorder with a Compound Heterozygote Possessing Two Novel FGB Mutations, One Qualitative and the Other Quantitative. Thrombosis Research, 196, 152-158. https://doi.org/10.1016/j.thromres.2020.08.031

[14] Terasawa, F., Okumura, N., Higuchi, Y., Ishikawa, S., Tozuka, M., Ishida, F., Kitano, K. and Katsuyama, T. (1999) Fibrinogen Matsumoto III: A Variant with Γ275 Arg→Cys (CGC→TGC)—Comparison of Fibrin Polymerization Properties with Those of Matsumoto I (Γ364 Asp→His) and Matsumoto II (Γ308 Asn→Lys). Thrombosis and Haemostasis, 81, 763-766. https://doi.org/10.1055/s-0037-1614568

[15] Willmann, J.K., Roos, J.E., Platz, A., Pfammatter, T., Hilfiker, P.R., Marincek, B. and Weishaupt, D. (2002) Multidetector CT: Detection of Active Hemorrhage in Pa- tients with Blunt Abdominal Trauma. AJR American Journal of Roentgenology, 179, 437-444. https://doi.org/10.2214/ajr.179.2.1790437

[16] Vilar, R., Fish, R.J., Casini, A. and Neerman-Arbez, M. (2020) Fibrin (Ogen) in Human Disease: Both Friend and Foe. Haematologica, 105, 284-296. https://doi.org/10.3324/haematol.2019.236901

[17] N.-A., M. and de Moerloose, P. (2010) Hereditary Fibrinogen Abnormalities. In: Kaushansky, K., Lichtman, M., Beutler, E., Kipps, T., Prchanl, J. and Seigsohn, U., Eds., Williams Hematology, McGraw-Hill, New York, 1-33.

[18] Linenberger, M.L., Kindelan, J., Bennett, R.L., Reiner, A.P. and Cote, H.C. (2000) Fibrinogen Bellingham: A Γ-Chain R275C Substitution and a Β-Promoter Poly- morphism in a Thrombotic Member of an Asymptomatic Family. American Journal of Hematology, 64, 242-250. https://doi.org/10.1002/1096-8652(200008)64:4<242::AID-AJH2>3.0.CO;2-O

[19] Yamazumi, K., Terukina, S., Onohara, S. and Matsuda, M. (1988) Normal Plasmic Cleavage of the Γ-Chain Variant of “Fibrinogen Saga” with an Arg-275 to His Subs- titution. Thrombosis and Haemostasis, 60, 476-480. https://doi.org/10.1055/s-0038-1646994

[20] Terukina, S., Matsuda, M., Hirata, H., Takeda, Y., Miyata, T., Takao, T. and Shimo- nishi, Y. (1988) Substitution of ΓArg-275 by Cys in an Abnormal Fibrinogen, “Fi- brinogen Osaka II”. Evidence for a Unique Solitary Cystine Structure at the Muta- tion Site. Journal of Biological Chemistry, 263, 13579-13587. https://doi.org/10.1016/S0021-9258(18)68281-X

[21] Cote, H.C., Lord, S.T. and Pratt, K.P. (1998) Γ-Chain Dysfibrinogenemias: Molecu- lar Structure-Function Relationships of Naturally Occurring Mutations in the ΓK. Niwa et al. Chain of Human Fibrinogen. Blood, 92, 2195-2212.

[22] Alving, B.M. and Henschen, A.H. (1987) Fibrinogen Giessen I: A Congenital Ho- mozygously Expressed Dysfibrinogenemia with Aα 16 Arg ← His Substitution. American Journal of Hematology, 25, 479-482. https://doi.org/10.1002/ajh.2830250414

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