An Unanticipated Prolonged Baseline ACT During Cardiac Surgery Due to Factor XII Deficiency

Factor XII (FXII) deficiency is a congenital disorder inherited as an autosomal recessive condition. In his heterozygous form, it is relatively common in the general population. However, a total absence of FXII as seen in homozygous patients, is rare, with an incidence of approximately 1/1,000,000 individuals. Surprisingly, FXII deficiency is rather associated with thromboembolic complications. Patients do not experience a higher risk of surgical bleeding despite a markedly prolonged activated partial thromboplastin time. Given its low incidence in the general population, the finding of an unknown FXII deficiency is rare during cardiac surgery. This unique case describes a patient with an unanticipated prolonged baseline activated clotting time (ACT) during cardiac surgery in which his bleeding history and rotational thromboelastometry tracings lead us to the diagnosis of a FXII deficiency. The finding of a hypocoagulable INTEM tracing and a concurrent normal EXTEM tracing in a sample of a patient with prolonged ACT and adverse anamnestic bleeding history should prompt clinicians to consider a FXII deficiency. It may help clinicians in further perioperative management where there is not enough time to wait for the results of individual coagulation factor testing.

Manifestaciones clínicas de la deficiencia de factor XII en un lactante

RESUMEN Introducción: El factor XII o factor de Hageman pertenece al sistema de contacto al ser iniciador de la vía intrínseca de la coagulación. Concentraciones bajas de este factor se asocian a tiempo de tromboplastina parcial activado prolongado, sin embargo, no se producen manifestaciones hemorrágicas como ocurre en la deficiencia de otros factores. Objetivo: Describir las manifestaciones clínicas de un lactante con diagnóstico de deficiencia de factor XII de la coagulación. Presentación del caso: Se presenta un lactante de 10 meses que tuvo aparición espontánea de equimosis y se diagnosticó un déficit de factor XII. Conclusiones: Aunque no es común, la deficiencia del factor XII puede estar asociada a manifestaciones hemorrágicas como equimosis tal como se describe en el presente caso.

ABSTRACT Introduction: Factor XII or Hageman factor belongs to the contact system as it is the initiator of the intrinsic coagulation pathway. Low concentrations of this factor are associated with prolonged activated partial thromboplastin time, however, hemorrhagic manifestations do not occur as occurs in the deficiency of other factors. Objective: Describe the clinical manifestations of an infant diagnosed with coagulation factor XII deficiency. Case presentation: A 10-month-old infant who had spontaneous onset of ecchymosis and a factor XII deficiency was diagnosed. Conclusions: Although not common, factor XII deficiency may be associated with hemorrhagic manifestations such as ecchymosis, as described in the present case.

A Rare Case of Factor Xii Deficiency in a Pregnant Woman

@#Factor XII deficiency, also known as the Hageman factor, is a rare disorder that has not been associated with any adverse outcomes. It is an interesting blood disorder whereby in the state of deficiency, it causes prolongation activated partial thromboplastin time (aPTT) which is correctable with mixing test. Although there have been case reports that have mentioned events of thrombosis and bleeding, however, no clear causal relationship has been established. Evidence for adverse events occurring in patients with Factor XII deficiency is sparse. We report here a case of a lady with a history of miscarriages who was incidentally found to have Factor XII deficiency during a routine workup for prolonged aPTT.

Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis

Hereditary angioedema is an autosomal dominant disease characterized by recurrent angioedema attacks with the involvement of multiple organs. The disease is unknown to many health professionals and is therefore underdiagnosed. Patients who are not adequately diagnosed and treated have an estimated mortality rate ranging from 25% to 40% due to asphyxiation by laryngeal angioedema. Intestinal angioedema is another important and incapacitating presentation that may be the main or only manifestation during an attack. In this article, a group of experts from the "Associação Brasileira de Alergia e Imunologia (ASBAI)" and the "Grupo de Estudos Brasileiro em Angioedema Hereditário (GEBRAEH)" has updated the Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

Pronóstico materno y perinatal en el embarazo con deficiencia del factor XII / Maternal and perinatal prognosis in pregnancy with factor XII deficiency

ANTECEDENTES: El déficit de factor XII es una enfermedad poco frecuente, relacionada con trombosis y abortos a repetición. OBJETIVO: Evaluar el resultado materno y perinatal en 25 embarazadas con déficit del factor XII. MÉTODOS: Estudio observacional descriptivo de 25 embarazadas (27 gestaciones) con esta patología desde enero 2005 a junio de 2011. RESULTADOS: La asociación de alteración del factor XII con otras trombofilias hereditarias o adquiridas es frecuente. En 24 mujeres se obtuvieron gestaciones exitosas, con sólo 3 abortos. Hubo 20 partos a término, con recién nacidos con peso y Apgar adecuado. Se registró un caso de restricción de crecimiento intrauterino. No hubo complicaciones médicas. Se utilizaron en todas las embarazadas antiagregantes y/o antitrombóticos como tratamiento. El fármaco utilizado más frecuente fue la heparina de bajo peso molecular, asociada en ocasiones al ácido acetilsalicílico. No hubo complicaciones por el uso de heparina de bajo peso molecular. CONCLUSIONES: El control multidisciplinar del embarazo y el tratamiento individualizado ha conseguido en esta patología buenos resultados maternos y neonatales.

BACKGROUND: The factor XII deficiency is a rare disease related with thrombosis and recurrent pregnancy loss. OBJECTIVE: To evaluate maternal and perinatal outcome in 25 pregnant women with deficiency of factor XII. METHODS: An observational descriptive study of 25 women with factor XII deficiency and pregnancy (27 pregnancies) between January 2005 and March 2011. RESULTS: The association with other inherited or acquired thrombophilia is common. 24 women have achieved successful pregnancies and only 3 miscarriages. There were 20 women with deliveries at term, with appropiate birth weight and Apgar test. There was one case of intrauterine growth restriction. There were no medical complications. The treatment used was antiplatelet and/or antithrombotic agents in all cases. The most used drug was low molecular weight heparin, sometimes associated to acetylsalicylic acid. CONCLUSIONS: A multidisciplinary control of the pregnancy and an individualized treatment has achieved good maternal and neonatal outcomes.

Cardioprotective effect of ornitho-kinin in an anesthetized, open-chest chicken model of acute coronary occlusion

The generation of bradykinin (BK; Arg-Pro-Pro-Gly-Phe-Ser-Pro-Phe-Arg) in blood and kallidin (Lys-BK) in tissues by the action of the kallikrein-kinin system has received little attention in non-mammalian vertebrates. In mammals, kallidin can be generated by the coronary endothelium and myocytes in response to ischemia, mediating cardioprotective events. The plasma of birds lacks two key components of the kallikrein-kinin system: the low molecular weight kininogen and a prekallikrein activator analogous to mammalian factor XII, but treatment with bovine plasma kallikrein generates ornitho-kinin [Thr6,Leu8]-BK. The possible cardioprotective effect of ornitho-kinin infusion was investigated in an anesthetized, open-chest chicken model of acute coronary occlusion. A branch of the left main coronary artery was reversibly ligated to produce ischemia followed by reperfusion, after which the degree of myocardial necrosis (infarct size as a percent of area at risk) was assessed by tetrazolium staining. The iv injection of a low dose of ornitho-kinin (4 µg/kg) reduced mean arterial pressure from 88 ± 12 to 42 ± 7 mmHg and increased heart rate from 335 ± 38 to 402 ± 45 bpm (N = 5). The size of the infarct was reduced by pretreatment with ornitho-kinin (500 µg/kg infused over a period of 5 min) from 35 ± 3 to 10 ± 2 percent of the area at risk. These results suggest that the physiological role of the kallikrein-kinin system is preserved in this animal model in spite of the absence of two key components, i.e., low molecular weight kininogen and factor XII.

A Study of Factor XII Deficiency in Recurrent Spontaneous Abortion / 대한불임학회지

OBJECTIVE: To evaluate factor XII deficiency in patients with recurrent spontaneous abortion and its relation to aPTT. MATERIAL AND METHOD: Factor XII was analyzed by clotting method. RESULTS: Of 70 patients with recurrent spontaneous abortion, there were 35 cases of factor XII deficiency. Among them, there were only 3 cases of prolonged aPTT. CONCLUSIONS: It is still unclear whether factor XII deficiency is related to recurrent spontaneous abortion. Molecular approaches should be used to understand further the causal relationship. But based on this result, in the workup of patients with recurrent spontaneous abortion, factor XII should be included. aPTT is not likely to represent the abnormality of factor XII.