PDF(Pubmed)
Abstract：
UNASSIGNED: Factor XIII (FXIII) deficiency, a rare coagulation disorder resulting from F13A1 gene mutations, can lead to severe bleeding episodes, especially in infants. The authors\' case study featuring a 16-year-old female with a history of this deficiency revealed intracranial hemorrhage necessitating immediate medical intervention. The text emphasizes the importance of understanding the epidemiology and genetics of FXIII deficiency, as well as the challenges in diagnosis and management.
UNASSIGNED: A 16-year-old female with FXIII deficiency presented to the Emergency Department (ER) after a fall, experiencing weakness on her right side, headache, seizures, and altered consciousness. Neurological examination showed weakness and increased tone on the right side of the body. Computed tomography (CT) scan revealed an intracranial subdural hemorrhage overlying the superior parietal lobe. Treatment included IV fluids, sodium valproate, antibiotics, fresh frozen plasma, and mannitol. Serial neurological assessments were normal, and the patient remained stable. MRI later confirmed hemorrhage. Upon discharge, she was prescribed medication and physiotherapy, leading to significant improvement at the 6-month follow-up.
UNASSIGNED: The prevalence of FXIII deficiency, a rare disorder, is higher in populations with consanguineous marriages, particularly in regions like Pakistan, India, Tunisia, Finland, and Iran due to specific genetic mutations. Diagnosis involves thorough evaluation and specific lab tests, with varied clinical symptoms including prolonged bleeding, especially in newborns. FXIII deficiency can also develop in association with conditions like hepatic failure and leukemia, complicating diagnosis. Treatment options include blood products and recombinant FXIII, with management of intracranial bleeding requiring a multidisciplinary approach.
UNASSIGNED: The case underscores the critical need for early identification and specialized care for individuals with FXIII deficiency to mitigate life-threatening complications like intracranial hemorrhage, promoting tailored treatment approaches and improved patient outcomes.
UNASSIGNED: A 16-year-old female with FXIII deficiency presented to the Emergency Department (ER) after a fall, experiencing weakness on her right side, headache, seizures, and altered consciousness. Neurological examination showed weakness and increased tone on the right side of the body. Computed tomography (CT) scan revealed an intracranial subdural hemorrhage overlying the superior parietal lobe. Treatment included IV fluids, sodium valproate, antibiotics, fresh frozen plasma, and mannitol. Serial neurological assessments were normal, and the patient remained stable. MRI later confirmed hemorrhage. Upon discharge, she was prescribed medication and physiotherapy, leading to significant improvement at the 6-month follow-up.
UNASSIGNED: The prevalence of FXIII deficiency, a rare disorder, is higher in populations with consanguineous marriages, particularly in regions like Pakistan, India, Tunisia, Finland, and Iran due to specific genetic mutations. Diagnosis involves thorough evaluation and specific lab tests, with varied clinical symptoms including prolonged bleeding, especially in newborns. FXIII deficiency can also develop in association with conditions like hepatic failure and leukemia, complicating diagnosis. Treatment options include blood products and recombinant FXIII, with management of intracranial bleeding requiring a multidisciplinary approach.
UNASSIGNED: The case underscores the critical need for early identification and specialized care for individuals with FXIII deficiency to mitigate life-threatening complications like intracranial hemorrhage, promoting tailored treatment approaches and improved patient outcomes.
摘要：
■因素XIII（FXIII）缺陷，由F13A1基因突变引起的罕见凝血障碍，会导致严重的出血事件,尤其是婴儿。作者的案例研究包括一名16岁女性，有这种缺陷的病史，显示颅内出血需要立即进行医疗干预。本文强调了了解FXIII缺乏症的流行病学和遗传学的重要性，以及诊断和管理方面的挑战。
■一名患有FXIII缺乏症的16岁女性在跌倒后被送往急诊科（ER），她右侧的弱点,头痛,癫痫发作,和改变意识。神经系统检查显示身体右侧无力和音调增加。计算机断层扫描（CT）扫描显示颅内硬膜下出血覆盖上顶叶。治疗包括静脉输液，丙戊酸钠，抗生素,新鲜冷冻血浆，还有甘露醇.连续的神经评估是正常的，患者保持稳定。MRI后来证实出血。出院时，她接受了药物和物理治疗，导致6个月的随访显着改善。
■FXIII缺乏症的患病率，一种罕见的疾病,在有近亲婚姻的人群中更高，特别是在巴基斯坦这样的地区，印度,突尼斯,芬兰,和伊朗由于特定的基因突变。诊断包括全面评估和特定的实验室测试，有各种临床症状，包括长时间出血，尤其是新生儿。FXIII缺乏症也可能与肝功能衰竭和白血病等疾病相关，复杂的诊断。治疗方案包括血液制品和重组FXIII，颅内出血的管理需要多学科的方法。
该案例强调了对FXIII缺乏症患者的早期识别和专门护理的迫切需要，以减轻危及生命的并发症，如颅内出血，促进量身定制的治疗方法并改善患者预后。
■一名患有FXIII缺乏症的16岁女性在跌倒后被送往急诊科（ER），她右侧的弱点,头痛,癫痫发作,和改变意识。神经系统检查显示身体右侧无力和音调增加。计算机断层扫描（CT）扫描显示颅内硬膜下出血覆盖上顶叶。治疗包括静脉输液，丙戊酸钠，抗生素,新鲜冷冻血浆，还有甘露醇.连续的神经评估是正常的，患者保持稳定。MRI后来证实出血。出院时，她接受了药物和物理治疗，导致6个月的随访显着改善。
■FXIII缺乏症的患病率，一种罕见的疾病,在有近亲婚姻的人群中更高，特别是在巴基斯坦这样的地区，印度,突尼斯,芬兰,和伊朗由于特定的基因突变。诊断包括全面评估和特定的实验室测试，有各种临床症状，包括长时间出血，尤其是新生儿。FXIII缺乏症也可能与肝功能衰竭和白血病等疾病相关，复杂的诊断。治疗方案包括血液制品和重组FXIII，颅内出血的管理需要多学科的方法。
该案例强调了对FXIII缺乏症患者的早期识别和专门护理的迫切需要，以减轻危及生命的并发症，如颅内出血，促进量身定制的治疗方法并改善患者预后。
