Hematogenous thrombophilia as an additional risk factor for cerebral circulation disorders

Введение. Гематогенная тромбофилия служит дополнительным фактором риска нарушений мозгового кровообращения (НМК). Цель исследования: изучить влияние повышенного уровня фактора VIII и нарушений в системе фибринолиза на НМК у пациентов с сочетанной патологией системы свертывания крови. Материалы и методы. Обследовано 20 пациентов с перенесенными ишемическими инсультами в возрасте от 36 до 56 лет. Определяли показатели плазменного, тромбоцитарного звеньев гемостаза, системы фибринолиза, а также генетические полиморфизмы системы гемостаза. Результаты. У всех пациентов выявлены различные сочетания генетических полиморфизмов, связанных с изменениями антикоагулянтного звена гемостаза, а также дефекты системы фибринолиза и коагуляционного звена гемостаза, что является дополнительным фактором риска НМК. Заключение. У пациентов молодого и среднего возраста, перенесших острое НМК по ишемическому типу, необходимо исследование системы свертывания крови, включающее определение содержания фактора VIII в крови, показателей системы фибринолиза и уровня гомоцистеина. Background. Hematogenous thrombophilia is an additional risk factor for cerebral circulatory disorders (ССD). Objectives: to study the impact of increased factor VIII level and disturbances of fibrinolysis system on ССD in patients with combined pathology of blood coagulation. Patients/Methods. We examined 20 patients with ischemic strokes aged from 36 to 56 years. The parameters of plasma hemostasis, platelet function, fibrinolysis system, as well as the genetic polymorphisms of hemostasis system were determined. Results. All patients had different combinations of genetic polymorphisms associated with anticoagulant hemostasis changes, as well as defects in fibrinolysis system and coagulation hemostasis that is an additional risk factor for ischemic stroke. Conclusions. In young and middle-aged patients with history of acute ischemic ССD, it is necessary to study blood coagulation, including the determination of blood factor VIII level, fibrinolysis system parameters and homocysteine content.

Aseptic necrosis of the femoral head in the course of haemophilia; a different clinical and radiological course compared to typical Legg-Calve-Perthes disease (twenty years of follow-up) – case report

The authors analyse the course of aseptic necrosis of the femoral head in a 7-year-old boy with haemophilia A (factor VIII level - 0%) caused by massive haemarthrosis into the hip joint (joint tamponade). The patient’s clinical and radiological symptoms differed from those in classic LCP disease, and now, after 20 years, the consequences of necrosis do not confirm typical Perthes disease (LCP). Significant shortening (about 5 cm) of the limb and the X-ray image of the proximal end of the femur resemble the consequences of severe necrosis of the femoral head in the treatment of an infant with developmental dysplasia of the hip (DDH). The study presents necrosis of the femoral head in the course of haemophilia due to its extremely rare occurrence as opposed to haemophilic arthropathy typical for this disease. This description may also contribute to considerations on the etiopathology of LCP disease.

ABO incompatibility and mild factor VIII deficiency in the neonate: Not too much of a problem but a challenge on ECMO

Coagulopathy and bleeding on extracorporeal membrane oxygenation (ECMO) contribute to a worse outcome, and hyperbilirubinemia is an additional threat for newborn babies. We report a case of a newborn boy with congenital diaphragmatic hernia (CDH) associated with ABO incompatibility and an inherited mild hemophilia A. Due to respiratory failure he needed ECMO on his first day of life. During ECMO an exchange transfusion was performed after an extensive hyperbilirubinemia had evolved. Thereafter severe bleeding occurred, and a very low factor VIII level was found causative for that. After factor VIII substitution bleeding was under control and the baby eventually could be weaned from ECMO, underwent corrective surgery, and recovered.

Elevated factor VIII levels and arterial stroke: a review of literature with a case report

Background Cerebral arterial thromboses or ischemic strokes may be caused by cumulative or independent effects of a variety of risk factors. High factor VIII level is one of those important but less known risk factors for arterial and venous thrombosis. We hereby provide a comprehensive review of the role of high factor VIII levels as a risk factor of arterial thrombosis. Moreover, we present our views on inclusion of factor VIII testing in the etiology workup protocol of young patients with ischemic strokes and their treatment with anticoagulant therapy. Case presentation We illustrate a case of 32-year-old North Indian female patient with Ischemic stroke whose only identifiable risk factor was revealed to be an elevated factor VIII level. She was treated with oral anticoagulant with an uneventful follow-up of 6 months. Conclusions Elevated factor VIII levels have their independent and additive effects in causation and prognosis of arterial strokes. We herein discuss the mechanism of this association, the feasibility and yield of routine testing, appropriate cut-off levels, and further treatment protocol especially in young stroke patients.

Extensive catastrophic thromboses from elevation of factor VIII

Catastrophic thrombotic syndrome, otherwise known as thrombotic storm (TS) is an extreme prothrombotic clinical syndrome that presents as rapid onset of multiple thromboembolic events affecting a large variety of vasculature. In recent studies, there has been a correlation of high plasma levels of factor VIII with thrombotic events. We present the case of a young man who exhibited multi-organ failure due to thrombotic storm. A 38-year-old male presented to the emergency department for progressive dyspnea and was diagnosed to have pulmonary embolism. The patient developed respiratory distress requiring intubation and was diagnosed with both an ST-elevation myocardial infarction and right cerebral infarction during the hospital course. The patient expired and autopsy revealed the cause of death to be myocardial, cerebral and renal infarction from widespread vascular thrombosis. Autopsy revealed cause of death to be elevated factor VIII associated thrombotic coagulopathy. Factor VIII level upon autopsy was 375% (55-200%). Although TS is rare, it can be lifethreatening if not recognized early. Survival depends on the prompt initiation and duration of anticoagulation.

Characteristic of Hemophilia A Patients in Initial Diagnosis in Dr. Soetomo General Hospital Surabaya

Introduction: This research is conducted to describe the characteristic of Hemophilia A patients.Methods: Cross-sectional study conducted in 55 patients with Hemophilia A. The variables were age, bleeding episode, factor VIII level, and bleeding site. The data presented descriptively.Results: The largest group was 2-10 years old (52,73%). The most common bleeding episode occured in the patients was moderate level (60,0%). The most common patient’s factor VIII level was moderate level (52,7%). The patient’s bleeding most likely took place in muscle or known as hematoma (41,8%). While the less likely bleeding were intracranial and nose bleeding.Conclusion: 2-10 years old patient are the largest group because of hemophilia A mostly diagnosed in childhood, where children are actively moved so that the spontaneous bleeding or abnormal bleeding can be seen easily. Parents needs to be aware if there were abnormal or spontaneous bleeding which takes place in muscle or known as hematoma with moderate episode of bleeding which meant that the occurrence of spontaneous bleeding is periodically happened or in prolonged bleeding accompanied by minor trauma or invasive action.

An Unusual Presentation of Hemophilia A: Pseudotumor of Distal End Radius—Masquerading as Giant Cell Tumor

Hemophilia is a coagulation defect caused by a functional or absolute deficiency of coagulation factors. Deficiency of factor VIII leads to hemophilia A; deficiency of factor IX causes hemophilia B. Pseudotumor may arise from hemorrhage into the muscle and within the subperiosteal space and can lead to destruction of the adjacent muscle, bone, nerves, and vessels. A 60-year-old man presented with the complaint of pain and swelling in right wrist. The patient consulted the general practitioner who misdiagnosed it as a case of giant cell tumor due to typical X-ray changes. Biopsy was done following which there was prolonged bleeding leading to worsening of clinical condition and the patient presented in our hospital with ulcerated swelling. Routine blood investigations were within normal limit. Prothrombin time was 12.1 seconds and activated partial thromboplastin time (aPTT) was 54.3 seconds. Raised aPTT led to suspicion of hemophilia, and factor VIII and IX levels were investigated. Factor IX level was within normal limit. Factor VIII level was 6.3%. The patient was managed conservatively. Factor VIII level was replaced according to standard protocol (40 IU/kg per dose thrice a week for 10 days). Daily dressing was done using tranexamic acid locally. Lesion healed completely in 6 months.