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Factor XI deficiency (hemophilia C): A case report" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "544" "paginaFinal" => "545" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Francisco Valga, Tania Monzón, Fernando Henriquez Palop, Gloria Antón" "autores" => array:4 [ 0 => array:4 [ "nombre" => "Francisco" "apellidos" => "Valga" "email" => array:1 [ 0 => "fvalga@hotmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "Tania" "apellidos" => "Monzón" ] 2 => array:2 [ "nombre" => "Fernando" "apellidos" => "Henriquez Palop" ] 3 => array:2 [ "nombre" => "Gloria" "apellidos" => "Antón" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Centro de Diálisis Avericum Dr. Negrín, Las Palmas, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "<span class="elsevierStyleItalic">Corresponding author</span>." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Alargamiento del tiempo de hemostasia en hemodiálisis. Déficit del factor <span class="elsevierStyleSmallCaps">xi</span> (hemofilia C). A propósito de un caso" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Factor <span class="elsevierStyleSmallCaps">xi</span> is a dimeric serine protease which gene is located in chromosome 4 and it is present in platelets and plasma. Factor <span class="elsevierStyleSmallCaps">xi</span> is involved in the intrinsic coagulation pathway by activating factor <span class="elsevierStyleSmallCaps">ix</span>.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,2</span></a> It is produced by the liver and circulates as homodimer in a inactive form.<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">3,4</span></a> The literature describes few cases with a deficit of factor XI (hemophilia C) on hemodialysis (HD).<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We are presenting a patient, 77 years with CKD secondary to nephroagiosclerosis on HD since July 2012. He had hypertension, isquemic heart disease, peripheral vascular disease at the femoral popliteal level, atherothrombotic vasculocerebral event with residual right hemiplegia. He has a humero-cephalic AVF in the left arm since October 2015 that presented repeated problems of puncture, bleeding complications, mainly hematomas and an increased time for hemostasis. Additional tests revealed abnormal coagulation when the patient was not taking anticoagulation of anti platelets aggregation medications: the INR was 1.54 and the TTPa<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>180<span class="elsevierStyleHsp" style=""></span>s that were partially reversed with vitamin K, but did not prevent the bleeding.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Tests to evaluate hemostasis defect revealed an alteration of the intrinsic activation pathway of blood coagulation (rAPTT 1,32), likely related to a moderate deficit of factor <span class="elsevierStyleSmallCaps">xi</span> (56% of the activity). El rest of factors involved in the intrinsic pathway were within the normal range (factor <span class="elsevierStyleSmallCaps">viii</span> 224%, factor <span class="elsevierStyleSmallCaps">ix</span> 121%; factor <span class="elsevierStyleSmallCaps">xiii</span> 84%). Lupus anticoagulant, anticardiolipin antibodies and anti b2GP1 (IgG and IgM) were negative. Hematologists advised the administration of nasal desmopresin (10<span class="elsevierStyleHsp" style=""></span>mcg/fosa nasal), 30<span class="elsevierStyleHsp" style=""></span>min before the end of the HD session, which succeed in achieving hemostasia, without anticoagulation of the circuit and no thrombotic event has occurred so far to date.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Factor <span class="elsevierStyleSmallCaps">ix</span> inhibits the fibrinolysis through the inhibition thrombin dependent fibrinolysis.<a class="elsevierStyleCrossRefs" href="#bib0075"><span class="elsevierStyleSup">5,6</span></a> Factor IX deficiency (hemophilia C) is an uncommon autosomal inherited disease found more frequently in some populations such as Ashkenazi Jews. Clinical symptoms may be detected in both homozygotes and heterozygotes. Symptomatology includes bleeding episodes that use to be less severe than in Hemophilia A or B and therefore it does not require prophylaxis.<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> In these patients, bleeding may occur depending on the levels of other coagulation factors such as factor <span class="elsevierStyleSmallCaps">viii</span> and the von Willebrand factor.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> There is little information on the clinical impact of Factor IX deficiency in HD patients. One case from Japan,<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">3</span></a> had a APTTa >120<span class="elsevierStyleHsp" style=""></span>s at the time of the AVF placement but this patient, as opposed to our case, had bleeding at the site of needle puncture.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Desmopresin (1-deamina-9-darginina-vasopresina) is a synthetic analog of vasopressin that increases the release of factor <span class="elsevierStyleSmallCaps">viii</span> and the von Willebrand factor<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> from the endothelium improving platelet aggregation. Desmopresin is use for the treatment of Type 1 von Willerbrand disease and hemophilia A<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> and is given to prevent bleeding associated to renal biopsies.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> Some authors hypothesize that desmopresin could stimulate the release of stored factor <span class="elsevierStyleSmallCaps">xi</span>,<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a> this would be in addition to the effect on von Willebrand and <span class="elsevierStyleSmallCaps">viii</span> factors (normal in this case). We believe that in patients with a mild deficit is difficult to anticipate the severity of bleeding events since there is only a weak correlation with serum levels of factor XI.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,3,6,9</span></a> Other therapeutic options are transfusion of fresh frozen plasma, administration of factor <span class="elsevierStyleSmallCaps">xi</span> concentrated after viral inactivation or the use of antifibrinolytic medication and the desmopresin combined with other therapies.<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">1,6,9,10</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">In summary, this case illustrate the need for investigating the cause of bleeding disorders in HD patients without assuming that it could be too much anticoagulation or to the addition of antiagregant therapy. This will improve the patient health since bleeding episodes will be avoided and will make the HD procedure safer.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Valga F, Monzón T, Henriquez Palop F, Antón G. Alargamiento del tiempo de hemostasia en hemodiálisis. Déficit del factor <span class="elsevierStyleSmallCaps">xi</span> (hemofilia C). A propósito de un caso. 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Year/Month | Html | Total | |
---|---|---|---|
2024 November | 6 | 10 | 16 |
2024 October | 52 | 41 | 93 |
2024 September | 51 | 33 | 84 |
2024 August | 72 | 57 | 129 |
2024 July | 39 | 21 | 60 |
2024 June | 42 | 36 | 78 |
2024 May | 52 | 23 | 75 |
2024 April | 52 | 38 | 90 |
2024 March | 34 | 26 | 60 |
2024 February | 40 | 34 | 74 |
2024 January | 40 | 24 | 64 |
2023 December | 34 | 22 | 56 |
2023 November | 54 | 31 | 85 |
2023 October | 67 | 31 | 98 |
2023 September | 34 | 17 | 51 |
2023 August | 34 | 26 | 60 |
2023 July | 38 | 22 | 60 |
2023 June | 30 | 23 | 53 |
2023 May | 53 | 35 | 88 |
2023 April | 33 | 20 | 53 |
2023 March | 45 | 21 | 66 |
2023 February | 37 | 17 | 54 |
2023 January | 42 | 29 | 71 |
2022 December | 60 | 45 | 105 |
2022 November | 49 | 47 | 96 |
2022 October | 49 | 37 | 86 |
2022 September | 50 | 31 | 81 |
2022 August | 52 | 49 | 101 |
2022 July | 41 | 44 | 85 |
2022 June | 47 | 35 | 82 |
2022 May | 45 | 31 | 76 |
2022 April | 71 | 55 | 126 |
2022 March | 59 | 40 | 99 |
2022 February | 51 | 38 | 89 |
2022 January | 44 | 41 | 85 |
2021 December | 61 | 45 | 106 |
2021 November | 69 | 41 | 110 |
2021 October | 59 | 54 | 113 |
2021 September | 34 | 34 | 68 |
2021 August | 34 | 43 | 77 |
2021 July | 48 | 34 | 82 |
2021 June | 29 | 32 | 61 |
2021 May | 63 | 42 | 105 |
2021 April | 70 | 55 | 125 |
2021 March | 57 | 45 | 102 |
2021 February | 45 | 27 | 72 |
2021 January | 55 | 17 | 72 |
2020 December | 46 | 16 | 62 |
2020 November | 51 | 29 | 80 |
2020 October | 25 | 25 | 50 |
2020 September | 43 | 19 | 62 |
2020 August | 38 | 13 | 51 |
2020 July | 40 | 10 | 50 |
2020 June | 30 | 26 | 56 |
2020 May | 54 | 16 | 70 |
2020 April | 36 | 18 | 54 |
2020 March | 32 | 17 | 49 |
2020 February | 43 | 21 | 64 |
2020 January | 45 | 19 | 64 |
2019 December | 46 | 31 | 77 |
2019 November | 49 | 30 | 79 |
2019 October | 46 | 14 | 60 |
2019 September | 72 | 17 | 89 |
2019 August | 38 | 28 | 66 |
2019 July | 47 | 20 | 67 |
2019 June | 30 | 32 | 62 |
2019 May | 29 | 22 | 51 |
2019 April | 55 | 50 | 105 |
2019 March | 53 | 29 | 82 |
2019 February | 37 | 23 | 60 |
2019 January | 42 | 21 | 63 |
2018 December | 139 | 42 | 181 |
2018 November | 232 | 25 | 257 |
2018 October | 202 | 13 | 215 |
2018 September | 109 | 19 | 128 |
2018 August | 86 | 12 | 98 |
2018 July | 68 | 13 | 81 |
2018 June | 76 | 10 | 86 |
2018 May | 94 | 16 | 110 |
2018 April | 174 | 10 | 184 |
2018 March | 147 | 13 | 160 |
2018 February | 118 | 8 | 126 |
2018 January | 119 | 9 | 128 |
2017 December | 114 | 7 | 121 |
2017 November | 87 | 9 | 96 |
2017 October | 64 | 9 | 73 |
2017 September | 77 | 11 | 88 |
2017 August | 51 | 8 | 59 |
2017 July | 45 | 7 | 52 |
2017 June | 24 | 4 | 28 |
2017 May | 20 | 4 | 24 |