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    International Journal of Innovative Science and Research Technology
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    Congenital factor V deficiency (CFVD) is a rare coagulation disorder, also known as para hemophilia, that was first described by Owren in 1947

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    Perioperative Management for a Patient With Severe Congenital Factor v Deficiency Undergoing Cochlear Implantation

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    Congenital factor V deficiency (CFVD) is a rare coagulation disorder, also known as para hemophilia, that was first described by Owren in 1947

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    12 views3 pages

    Perioperative Management For A Patient With Severe Congenital Factor V Deficiency Undergoing Cochlear Implantation

    Uploaded by

    International Journal of Innovative Science and Research Technology
    Congenital factor V deficiency (CFVD) is a rare coagulation disorder, also known as para hemophilia, that was first described by Owren in 1947

    Copyright:

    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
    Flag for inappropriate content
    of 3

    Volume 7, Issue 6, June – 2022 International Journal of Innovative Science and Research Technology

    ISSN No:-2456-2165

    Perioperative Management for a Patient with Severe


    Congenital Factor V Deficiency Undergoing Cochlear
    Implantation
    Zineb Bahja, Hanaa Bencharef, Sofia Sraidi, Bouchra Oukkache
    Hematology Laboratory, CHU Ibn Rochd, Casablanca, Morocco.
    Hassan II University of Casablanca, Faculty of Medicine and Pharmacy of Casablanca, Morocco.

    Abstract:- Congenital factor V deficiency (CFVD) is a There is no commercially available recombinant FV or


    rare coagulation disorder, also known as para plasma-derived FV concentrate [5]. In some of these cases,
    hemophilia, that was first described by Owren in 1947. pre-interventional fresh frozen plasma (FFP) infusions have
    Until now, no specific protocols for the management of been proven to minimize bleeding [3,6] . In this work we
    these patients have been established, owing to the variable report a case of a severe congenital factor V deficiency that
    spectrum of bleeding manifestations. However, available was operated for cochlear implantation with FFP
    research suggests that perioperative infusion of fresh infusions and no abnormal bleeding events.
    frozen plasma (FFP) may aid in maintaining FV levels to
    prevent bleeding. We present the case of a 47-year-old II. CASE PRESENTATION
    woman with congenital FV deficiency who underwent
    cochlear implantation with no postoperative hemorrhagic A 47-years-old woman candidate for a cochlear implant
    complications. for which the preoperative coagulation tests showed a
    significantly prolonged prothrombin time (PT) 16%
    Keywords:- Factor V, Congenital Factor V Deficiency, (Reference range RR 70-140%) and an elevated activated
    Perioperative Management, Cochlear Implantation, partial thromboplastin time (aPTT) 83.9s (RR 23-33s) with a
    Hemostasis, Hematology, Case Report. normal level of fibrinogen 3.06g/l (RR 2-4g/l). The patient
    has no history of hemorrhagic syndrome. Subsequent factors
    I. INTRODUCTION assays revealed a decreased factor V activity at 1% (RR 70-
    140%), the results of other factor assays was (all RR 70-
    Congenital FV deficiency is identified as a rare bleeding 140%): factor II at 88%, factor X at 86% and factor VIII at
    disorder (RBD), is expressed in an autosomal recessive 140% (searching for a combined factor V and VIII
    manner of inheritance with an estimated incidence of one per deficiency). FV inhibitor using a mixing test (mixture of
    million in the general population. The disease is mostly equal volume of patient’s plasma with normal plasma) was
    prevalent in regions where parental consanguinity is normal. The family investigation revealed the existence of a
    commonly practiced. The disorder can occur up to 10 times brother with isolated factor V deficiency (factor V at 1%),
    more frequently [1]. FV deficiency, formerly known as concluding to a severe congenital factor V deficiency.
    parahemophilia or Owren’s disease, was first described by
    Paul Owren in 1943 [1,2]. Only 200 patients with factor V We established a transfusion protocol including the
    deficiency have been described in the literature, and most of infusion of FFP at 20 mL/kg to control bleeding. Our
    them became symptomatic in early childhood. Typical objective was to have a factor V rate > 20% with an infusion
    clinical signs are mucosal tract bleeding and excessive of 5 units of FFP on day 1 preoperatively; an infusion of 5
    bleeding after invasive procedures [3]. Based on the FV units of FFP on day 0; an infusion of 5 units of FFP on day 1
    activity, the disease can be classified into three groups: mild postoperatively; and an infusion of 5 units of FFP on day 2.
    (with FV level at 10%), moderate (with FV level < 10%), and
    severe (with undetectable FV level) [4]. There are currently Coagulation assays were performed pre and post
    no well-established protocols for managing these patients. infusion of FFP (Figure 1).

    IJISRT22JUN771 www.ijisrt.com 793


    Volume 7, Issue 6, June – 2022 International Journal of Innovative Science and Research Technology
    ISSN No:-2456-2165
    Fig 1: The value of clinical blood coagulation analysis for the patient before and after surgery.

    70% 100
    93.2 64% 90
    60% 56%
    54%
    55% 80
    50% 70

    60
    40%
    FV and PT (%)

    35%
    50
    30% 36.5 aPTT
    23% 40
    (s)
    31.4
    20% 30
    15% 30.6
    19% 31.2 20
    17%
    10%
    10
    1%
    0% 0
    D-2 D-1 D0 D1 D2
    PT (%) 15% 56% 64% 54% 55%
    Factor V (%) 1% 19% 35% 23% 17%
    aPTT (s) 93.2 36.5 30.6 31.2 31.4

    The level of factor V increased by 35% compared to It is a glycoprotein generated by the liver, with around
    normal during the infusion of FFP. The levels of aPTT and 80% of it found in plasma and 20% in platelet alpha granules
    PT were corrected to 70% of normal after the infusion of the [10,5]. FV is a procoagulant cofactor that helps to create
    FFP. fibrin by causing prothrombin to develop. Thrombin, which
    is created through a different activation mechanism, catalyzes
    During and after the surgery, no evidence of active FV activation. Factor Va (FVa) activates factor Xa (FXa) in
    bleeding or major complications were reported, and the the second phase of the coagulation cascade, leading to the
    patient was discharged after 3 days. During the one month conversion of prothrombin to thrombin. FV interferes with
    follow-up, she had no evidence of bleeding. the anticoagulant cascade by inhibiting factor VIII activity
    [11].
    III. DISCUSSION
    The clinical features and family history, as well as
    Congenital Factor V deficiency is thought to be passed routine and specific laboratory tests, are used to make the
    down through families via an autosomal recessive gene (q23- diagnosis of FV deficiency. Concurrent prothrombin time
    24)2, which affects one in every million people and has no (PT) and activated partial thromboplastin time (aPTT)
    gender or race association [7]. Clinical symptoms of FV prolongation is required before performing more specific
    deficiency vary in severity and type. They vary in severity assays, such as the FV activity assay. In the case of low FV
    from minor mucosal and soft tissue bleeding to potentially activity, mixing studies should be performed to rule out the
    fatal hemorrhage such as gastrointestinal and cerebral presence of an FV inhibitor. To rule out the possibility of
    bleeding [6]. The most common manifestations in later life combined FV and FVIII deficiency, the FVIII level must also
    are mucous hemorrhages, most commonly epistaxis in men be determined. Molecular analysis can also be used to
    and menorrhagia in women [8]. confirm the disease [12].

    The vast majority of FV deficiency-causing mutations Despite the fact that our patient had no history of
    are one-of-a-kind and limited to a single family or region [4]. significant bleeding, preoperative laboratory testing revealed
    One-third of all hereditary genetic disorders are caused by a prolonged PT and aPTT as well as an FV level of 1%. A
    premature termination codon mutations (PTC). PTC is a type family investigation revealed the existence of a brother with
    of nonsense-mediated mRNA decay (NMD) that contains isolated factor V deficiencyAccording to some researchers,
    translation [9]. PTC-causing mutations have long been linked residual platelet FV may be critical for maintaining proper
    to severe forms of FV deficiency [4]. hemostasis in people with FV levels below 1%, which could

    IJISRT22JUN771 www.ijisrt.com 794


    Volume 7, Issue 6, June – 2022 International Journal of Innovative Science and Research Technology
    ISSN No:-2456-2165
    explain the difference between FV levels and different [5]. Thakar K, Parikh K, Chen Y, et al. Isolated factor V
    bleeding presentations [10]. deficiency in a patient with elevated PT and a PTT
    during routine pre-operative laboratory screening. Stem
    Because of its rarity, no guidelines or protocols for Cell Investig. 2014;1:1–4.
    treating this unusual entity have been developed [6]. When a [6]. Alexa Bello,Eric Salazar, Kirk Heyne, and Joseph
    factor V concentrate was unavailable, FFP was the best factor Varon. Aortic Valve Replacement in Severe Factor V
    substitute. To reduce the bleeding, we infused FFP at a rate Deficiency and Inhibitor: Diagnostic and Management
    of 20 mL/kg before and after surgery to raise FV levels. In Challenges. Cureus. 2019 Oct; 11(10): e5918.
    cases of invasive testing, bleeding, or surgery, FFP maintains [7]. Peyvandi F, Mannuci PM. Rare coagulation disorders.
    FV activity at >25 percent to 30 percent [5,13,14], which is Thromb Heamost 1999;84:1207-14.
    similar to our case. [8]. Lak M, Sharifian R, Peyvandi F, Mannucci PM.
    Symptoms of inherited factor V deficiency in 35 Iranian
    With no signs of severe bleeding, our patient received patients. Br J Haematol 1998;103:067-69.
    five units of FFP on Day -1, Day 0 (3H preoperatively), and [9]. Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA
    Day 1 postoperatively, and was discharged three days later decay in health and disease. Hum Mol Genet.
    with no current bleeding or major problems. Some authors 1999;8(10):1893–1900.
    recommended FFP transfusions three to ten days after surgery [10]. Park YH, Lim JH, Yi HG, et al. Factor V deficiency in
    to maintain FV levels and prevent hemorrhage [15]. Korean patients: clinical and laboratory features,
    treatment, and outcome. J Korean Med Sci.
    IV. CONCLUSION 2016;31:208–213.
    [11]. Camire RM. A new look at blood coagulation factor
    In patients with prolonged PT and aPTT, congenital FV V.Curr Opin Hematol. 2011;18:338–342.
    deficiency should be explored. Major surgical treatments can [12]. Tabibian S, Kazemi A, Dorgalaleh A. Laboratory
    be carried out on those people. Assuming that FV levels are diagnosis of congenital factor V deficiency, routine,
    carefully monitored prior to surgery, the precise role and specific coagulation tests with molecular methods. J
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    be defined. [13]. Mannucci PM, Duga S, Peyvandi F. Recessively
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    Competing interests 52.
    There are no competing interests declared by the [14]. Giancarlo Castaman. Prophylaxis of bleeding episodes
    authors. and surgical interventions in patients with rare inherited
    coagulation disorders.Blood Transfus. 2008 Sep;
    Authors’ contributions 6(Suppl 2): s39–s44.
    The diagnosis and clinical management of the patient [15]. Husain S, Ballem N, Beaton HL. Gastric bypass in a
    were the responsibility of ZB, BO, and SS. The paper was factor V deficient patient. Obes Surg. 2006;16:1104–
    written by ZB. HB assisted with the initial draft's analysis, 1106.
    supervision, and writing. BO conducts an intellectual content
    evaluation and edits the paper. The final manuscript was read
    by all authors and approved by them.

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