特発性血栓症（遺伝性血栓性素因によるものに限る。）

Cerebral venous thrombosis (CVT) is an uncommon cerebrovascular condition with highly variable clinical presentations and a wide spectrum of underlying causes. Iron deficiency anemia (IDA) has been increasingly recognized as a significant predisposing factor for CVT. We describe the case of a 45-year-old woman who presented with a gradually intensifying headache, followed by acute onset of left facial palsy and left-sided weakness. Laboratory tests demonstrated microcytic, hypochromic anemia, consistent with IDA. Computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance venography (MRV) revealed thrombosis of the right transverse sinus, accompanied by venous infarction and intracranial hemorrhage. An extensive workup showed no evidence of hereditary thrombophilia or autoimmune disease. Subsequent evaluation identified a uterine fibroid causing chronic menorrhagia, which was considered the primary source of her IDA. Anticoagulation therapy was started with low-molecular-weight heparin (LMWH) and later transitioned to apixaban. She also received iron supplementation and blood transfusion. Her neurological deficits gradually improved, with no progression of the intracranial hemorrhage and no new thrombotic events. Follow-up imaging showed substantial resolution of venous edema and mass effect; however, MRV continued to demonstrate persistent occlusion of the right transverse sinus. Anticoagulation was stopped four months after disease onset, and no recurrence occurred during subsequent follow-up. This case underscores several key clinical considerations. First, IDA resulting from chronic gynecologic blood loss should be recognized as a modifiable risk factor for CVT. Second, anticoagulation can be used safely in patients with hemorrhagic CVT, even in the presence of severe anemia. Third, good clinical and radiologic outcomes are possible despite incomplete venous recanalization. Collectively, these observations suggest that restoration of overall cerebral venous hemodynamics, rather than recanalization by itself, may be crucial for recovery from CVT.

BACKGROUND: Cerebral venous thrombosis presents with diverse clinical features, making early recognition of patients at risk for deterioration challenging. The cerebral venous thrombosis score was developed by our group and later renamed the CLOTS-EVT score as a mnemonic to facilitate recall and improve ease of clinical use. This 10-point tool, including decreased consciousness (C), low platelets and sodium (L), absence of oral contraceptive use (O), thrombosis burden >3 sinuses (T), seizure (S), and papilledema (E), was developed to predict early deterioration and guide timely venous thrombectomy. We aimed to externally validate this score. METHODS: We retrospectively analyzed adults with cerebral venous thrombosis treated between 2015 and 2017 across 12 centers. Clinical, laboratory, and imaging data were collected, and the CLOTS-EVT score was applied to each patient. Predictive performance was evaluated using sensitivity, specificity, predictive values, and the area under the receiver operating characteristic curve. Correlation with functional outcome at discharge and hospital length of stay was assessed. RESULTS: Eighty patients were analyzed (median age, 38.5 years; 66% female). Headache was the most common symptom; oral contraceptive use was reported in one-third of women. Additional risk factors included pregnancy (7.5%), central nervous system infection (1.25%), malignancy (6.25%), hereditary thrombophilia (3.75%), and smoking (15%). The transverse and sigmoid sinuses were most frequently involved. Anticoagulation was initiated in nearly all patients; 10% underwent endovascular therapy. Overall, 63.8% achieved favorable outcomes, 80% were discharged home, and mortality was 3.8%. In this cohort, 41.3% had decreased consciousness, 47.5% had sodium <139 mEq/L, 38.8% had platelets <225 000/μL, 68.75% were not using oral contraceptives, 25% had thrombosis in >3 sinuses, 20% had seizures, and 22.5% had papilledema. A CLOTS-EVT score ≥4 predicted early deterioration with 82% sensitivity, 61% specificity, and an area under the receiver operating characteristic curve of 0.718. Higher scores correlated with longer hospital stay (r=0.325) and worse functional outcome (r=0.363). CONCLUSIONS: The CLOTS-EVT score demonstrated acceptable performance as a predictor of early deterioration in cerebral venous thrombosis. By combining standard clinical, laboratory, and imaging variables, it provides a practical tool for risk stratification and may inform consideration of venous thrombectomy alongside anticoagulation.

Factor V Leiden (FVL) mutation is the most common hereditary thrombophilia and a well-established predisposing factor for venous thromboembolism, while its role in arterial thrombosis remains incompletely understood. We report the case of a 30-year-old postpartum woman who presented with extensive multifocal thromboembolic disease, including bilateral pulmonary embolism, renal infarction, left ventricular apical thrombus in the setting of peripartum cardiomyopathy (LVEF 20%), and acute ischemic stroke-all attributed to an underlying heterozygous Factor V Leiden mutation confirmed by PCR. Multimodality imaging, including CT pulmonary angiography, transthoracic echocardiography, and brain MRI, was central to establishing the full extent of thromboembolic disease and guiding anticoagulation therapy. This case highlights the pivotal role of imaging in diagnosing multifocal thromboembolism and underscores the importance of systematic thrombophilia workup in young patients presenting with unexplained or extensive thrombotic events, particularly in the postpartum period.

BACKGROUND: Umbilical vein thrombosis (UVT) is an uncommon but potentially serious neonatal condition. While most cases are associated with risk factors such as catheterization or congenital anomalies, spontaneous resolution without anticoagulation remains rare. CASE PRESENTATION: A full-term Chinese female neonate, small for gestational age (birth weight 2670 g, < 10th percentile), was delivered via emergency cesarean section at 39 weeks and 1 day because of placental abruption and chorioamnionitis. The newborn presented with poor respiratory effort and cyanosis, with Apgar scores of 6, 10, and 10 at 1, 5, and 10 min, respectively. Initial postnatal ultrasonography revealed a moderately echogenic lesion in the intrahepatic umbilical vein, which was consistent with the results of UVT. The infant required initial respiratory support, empirical antibiotics, and myocardial protection therapy. Laboratory tests revealed mild metabolic acidosis, electrolyte imbalance, and elevated white blood cell count and elevated myocardial enzymes, with no evidence of coagulopathy or hereditary thrombophilia. During the first week, the patient's clinical status improved steadily with supportive care. Follow-up ultrasonography on day 5 confirmed a stable thrombus with no progression. By the 1-month follow-up, ultrasonography demonstrated complete thrombus resolution and obliteration of the umbilical vein lumen without residual blood flow. No anticoagulant therapy or surgical intervention was administered. The patient was discharged in good condition without complications. CONCLUSION: This case highlights the potential for spontaneous resolution of neonatal UVT under conservative treatment without the need for anticoagulation. Although UVT is rare and lacks standardized treatment guidelines, early detection via ultrasonography enables timely monitoring and intervention, reducing the risk of complications. In this case, perinatal risk factors such as placental abruption, chorioamnionitis, and neonatal asphyxia may have contributed to thrombus formation. Further studies are needed to explore the role of perinatal inflammatory conditions in neonatal thrombosis and to establish evidence-based management strategies.

Chronic thromboembolic pulmonary hypertension (CTEPH) is rare in adolescents, and evidence regarding balloon pulmonary angioplasty (BPA) in young patients with hereditary thrombophilia remains limited. A 16year-old male was diagnosed with CTEPH and protein S deficiency, characterized by markedly low activity and antigen levels. Genetic analysis revealed a novel PROS1 frameshift variant (c.53del, p.Val18GlyfsTer69) predicted to cause loss of function. Despite anticoagulation and riociguat therapy, pulmonary hypertension persisted, and pulmonary angiography demonstrated predominantly peripheral organized thrombotic lesions. The patient underwent staged BPA at ages 16 and 17, with an additional session at 22. All procedures were completed without complications and were associated with sustained improvement in hemodynamics and exercise capacity during long-term follow-up. This case highlights the importance of considering hereditary thrombophilia in adolescent patients with CTEPH and suggests that staged BPA may be a safe and effective treatment option in selected patients with predominantly peripheral disease.