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Congenital Factor X Deficiency, Diagnosis, and Management

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Congenital Bleeding Disorders

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Abstract

Coagulation factor X (FX; synonyms: autoprothrombin III, Stuart–Prower factor) is a vitamin K-dependent glycoprotein that occupies a pivotal position in the coagulation cascade. After activation, activated FX (FXa) is the first enzyme in the common coagulation pathway and plays a key role in thrombin generation. Congenital FX deficiency is a very rare bleeding disorder that is inherited in an autosomal recessive manner estimated to occur in 1:1,000,000 individuals, although the prevalence is much greater in areas with a high rate of consanguineous marriage. Bleeding manifestations usually occur in homozygous and compound heterozygous cases, while heterozygous cases are generally asymptomatic. Regardless of the severity of FX deficiency, the most common bleeding symptoms are mucocutaneous bleedings including epistaxis, gum bleeding, and easy bruising. Patients with severe FX deficiency have a high incidence of spontaneous major bleeding. The bleeding may occur at any age; however, the cases with severe FX [FX:C) <1%] may be diagnosed early in life with an abnormal bleeding tendency. The affected women at reproductive age may present with menorrhagia. The diagnosis of FX deficiency is suspected following the finding of a prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) which corrects (unless an inhibitor is present) in a 50:50 mix with normal plasma and confirmed by measuring plasma FX levels either immunologically or functionally. Management includes on demand and prophylactic therapy (if and when indicated) Current available therapies include antifibrinolytic agents; tranexamic acid and aminocaproic acid and blood-derived products; fresh frozen plasma (FFP), prothrombin complex concentrate (PCC), FIX products, and plasma-derived FX concentrate (pdFX).

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Authors and Affiliations

  1. Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar abbas, Iran

    Fateme Roshanzamir

  2. Cairo University Pediatric Hospital, Pediatric Hematology and BMT Department, Disorders of Hemostasis Clinic and Social and Preventive Medicine Center, Kasr Alainy Hospital, Cairo University, Cairo, Egypt

    Magy Abdelwahab

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  1. Fateme Roshanzamir
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  1. Hamin Pazhuhan Tis Institute, Tehran, Iran

    Akbar Dorgalaleh

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Roshanzamir, F., Abdelwahab, M. (2023). Congenital Factor X Deficiency, Diagnosis, and Management. In: Dorgalaleh, A. (eds) Congenital Bleeding Disorders . Springer, Cham. https://doi.org/10.1007/978-3-031-43156-2_12

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