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      Rare inherited coagulation disorders: no longer orphan and neglected

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          Abstract

          Rare inherited coagulation disorders due to the deficiency or dysfunction of coagulation factors have until recently received less clinical attention than hemophilias and von Willebrand disease. This situation has changed in the last decades, mainly due to therapeutic progress with the availability of more and safer products for replacement therapy produced by plasma fractionation or recombinant DNA technology. This narrative review, based on the latest literature and expert opinion, emphasizes the progress achieved for each of the rare deficiencies, mentions the still unmet therapeutic needs, and sketches the perspectives for further progress.

          Essentials

          • •

            Rare inherited coagulation disorders have experienced much progress regarding treatment.

          • •

            Single-factor plasmatic or recombinant products are available for factor (F)VII, FX, FXI, and FXIII deficiencies.

          • •

            However, FV and prothrombin deficiencies are still missing a specific treatment agent.

          • •

            Coagulation rebalancing agents promise to fulfill the unmet needs of these patients.

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          Factor XIII: a coagulation factor with multiple plasmatic and cellular functions.

          István Komáromi, Zsuzsanna Bereczky, László Muszbek … (2011)
          Factor XIII (FXIII) is unique among clotting factors for a number of reasons: 1) it is a protransglutaminase, which becomes activated in the last stage of coagulation; 2) it works on an insoluble substrate; 3) its potentially active subunit is also present in the cytoplasm of platelets, monocytes, monocyte-derived macrophages, dendritic cells, chondrocytes, osteoblasts, and osteocytes; and 4) in addition to its contribution to hemostasis, it has multiple extra- and intracellular functions. This review gives a general overview on the structure and activation of FXIII as well as on the biochemical function and downregulation of activated FXIII with emphasis on new developments in the last decade. New aspects of the traditional functions of FXIII, stabilization of fibrin clot, and protection of fibrin against fibrinolysis are summarized. The role of FXIII in maintaining pregnancy, its contribution to the wound healing process, and its proangiogenic function are reviewed in details. Special attention is given to new, less explored, but promising fields of FXIII research that include inhibition of vascular permeability, cardioprotection, and its role in cartilage and bone development. FXIII is also considered as an intracellular enzyme; a separate section is devoted to its intracellular activation, intracellular action, and involvement in platelet, monocyte/macrophage, and dendritic cell functions.
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            Recessively inherited coagulation disorders.

            Pier Mannucci, Stefano Duga, Flora Peyvandi (2004)
            Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. We investigated more than 1000 patients with recessively inherited coagulation disorders from Italy and Iran, a country with a high rate of recessive diseases due to the custom of consanguineous marriages. Based upon this experience, this article reviews the genetic basis, prevalent clinical manifestations, and management of these disorders. The steps and actions necessary to improve the condition of these often neglected patients are outlined.
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              Congenital fibrinogen disorders: an update.

              Philippe de Moerloose, Alessandro Casini, Marguerite Neerman-Arbez (2013)
              Hereditary fibrinogen abnormalities comprise two classes of plasma fibrinogen defects: Type I, afibrinogenemia or hypofibrinogenemia, which has absent or low plasma fibrinogen antigen levels (quantitative fibrinogen deficiencies), and Type II, dysfibrinogenemia or hypodysfibrinogenemia, which shows normal or reduced antigen levels associated with disproportionately low functional activity (qualitative fibrinogen deficiencies). In afibrinogenemia and hypofibrinogenemia, most mutations of the FGA, FGB, or FGG fibrinogen encoding genes are null mutations. In some cases, missense or late truncating nonsense mutations allow synthesis of the corresponding fibrinogen chain but intracellular fibrinogen assembly and/or secretion are impaired. Afibrinogenemia is associated with mild-to-severe bleeding, whereas hypofibrinogenemia is most often asymptomatic. Thromboembolism may occur either spontaneously or in association with fibrinogen substitution therapy. Women with afibrinogenemia suffer from recurrent pregnancy loss but this can also occur in women with hypofibrinogenemia. Dysfibrinogenemia, caused mainly by missense mutations, is commonly associated with bleeding, thrombophilia, or both; however, most individuals are asymptomatic. Hypodysfibrinogenemia is a subcategory of this disorder. Even in specialized laboratories, the precise diagnosis of some fibrinogen disorders may be difficult. Determination of the molecular defects is important because it gives the possibility to confirm the diagnosis, to elaborate a diagnostic strategy, to distinguish in some cases that the patient is at risk of thrombosis rather than bleeding, and to enable prenatal diagnosis. However, genotype-phenotype correlations are not easy to establish. Replacement therapy is effective in treating bleeding episodes, but because the pharmacokinetics of fibrinogen after replacement therapy is highly variable among patients, it is important to adjust the treatment individually.
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                Author and article information

                Contributors
                Samin Mohsenian: @Samin_Mohsenian
                Pier Mannuccio Mannucci: @mannucci_p
                Flora Peyvandi: @flora_peyvandi
                Journal
                Journal ID (nlm-ta): Res Pract Thromb Haemost
                Journal ID (iso-abbrev): Res Pract Thromb Haemost
                Title: Research and Practice in Thrombosis and Haemostasis
                Publisher: Elsevier
                ISSN (Electronic): 2475-0379
                Publication date PMC-release: 27 May 2024
                Publication date Collection: May 2024
                Publication date (Electronic): 27 May 2024
                Volume: 8
                Issue: 4
                Electronic Location Identifier: 102460
                Affiliations
                [1 ]Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy
                [2 ]Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy
                Author notes
                [∗ ] Correspondence Pier Mannuccio Mannucci, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Via Pace 9, 20122 Milano, Italy. piermannuccio.mannucci@ 123456policlinico.mi.it @mannucci_p
                Article
                Publisher Item ID: S2475-0379(24)00149-3 Publisher ID: 102460
                DOI: 10.1016/j.rpth.2024.102460
                PMC ID: 11253144
                PubMed ID: 39022653
                SO-VID: e86ddbe7-244d-46c3-b225-97d2ae2d56a3
                Copyright © © 2024 The Author(s)
                License:

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                Date received : 20 March 2024
                Date revision received : 3 May 2024
                Date accepted : 18 May 2024
                Categories
                Subject: Review Article

                Keywords: coagulation rebalancing agents,nonfactor products,plasma-derived factors,prophylaxis,recessive coagulation disorders,recombinant coagulant factors
                Data availability:
                Keywords: coagulation rebalancing agents, nonfactor products, plasma-derived factors, prophylaxis, recessive coagulation disorders, recombinant coagulant factors

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