BACKGROUND Sickle cell disease is recognized as a hypercoagulable state; however the frequency and characteristics of venous thromboembolism in sickle cell patients have not been well-defined. PURPOSE To establish the prevalence and risk factors for venous thromboembolism in a large cohort of patients with sickle cell disease and determine the relationship between venous thromboembolism and mortality. METHODS We performed a cross-sectional study of 404 sickle cell disease patients cared for at the Sickle Cell Center for Adults at Johns Hopkins. Demographic, sickle cell disease-specific comorbidity, and venous thromboembolism data were collected on all patients. RESULTS 101 patients (25%) had a history of venous thromboembolism with a median age at diagnosis of 29.9 years. A history of non-catheter-related venous thromboembolism was found in 18.8% of patients. Sickle variant genotypes conferred a higher risk of non-catheter-related venous thromboembolism compared to sickle cell anemia genotypes (SS/Sβ0) (relative risk (RR) 1.77, 95% confidence interval (CI) 1.18–2.66). Tricuspid regurgitant jet velocity ≥ 2.5 m/s was also associated with non-catheter-related venous thromboembolism (RR 1.65, CI 1.12–2.45). Thirty patients (7.4%) died during the study period. Adjusting for all variables, non-catheter-related venous thromboembolism was independently correlated with death (RR 3.63, CI 1.66–7.92). CONCLUSION Venous thromboembolism is common in adults with sickle cell disease. Sickle variant genotypes and tricuspid regurgitant jet velocity ≥ 2.5m/s are associated with non-catheter-related venous thromboembolism. In addition, non-catheter-related venous thromboembolism appears to be an independent risk factor for death in our cohort. These results suggest that disease-specific prophylaxis and treatment strategies for venous thromboembolism should be investigated in sickle cell disease patients.

Despite its rarity in the United States, sickle cell disease accounts for a disproportionate amount of healthcare utilization and costs. The majority of this is due to acute care for painful crises. A small subpopulation of patients accounts for most these costs due to frequent visits to emergency departments and acute care facilities. Previous investigations have found that these high utilizing patients are distinguished by both a more severe disease course and certain non-hematologic characteristics, which may include higher socioeconomic status and some psychiatric and psychological characteristics. This prospective observational cohort study was undertaken to test the ability of these characteristics to prospectively predict acute pain care outcomes, including visit frequency, total opioid doses, and pain improvement at the Johns Hopkins Sickle Cell Infusion Center (SCIC). Seventy-three participants were followed for 12 months and SCIC utilization and treatment outcomes were tabulated for 378 visits. Participants who visited the SCIC most frequently had markedly worse pain improvement despite higher within-visit opioid doses. Higher utilization was associated with indicators of greater illness severity, more aggressive treatment for sickle cell disease, higher baseline opioid doses, higher socioeconomic status, greater pain-related anxiety, and a history of psychiatric treatment. Overall, poor acute pain treatment response was associated with higher utilization and higher baseline opioid doses. The pattern of association between high utilization, poor acute care outcomes, and higher baseline opioid doses is discussed in terms of prior research and future directions.

Introduction Venous thromboembolism (VTE) is common in sickle cell disease (SCD); however, the risk factors associated with VTE in patients with sickle variant syndromes are not known. The primary aim of this study was to determine hematologic and clinical risk factors for VTE in adults with hemoglobin SC or Sβ+ thalassemia genotypes. Materials and Methods We conducted a retrospective cross-sectional analysis of patients with hemoglobin SC and Sβ+ thalassemia genotypes followed at the Sickle Cell Center for Adults from 2008 to 2012. Data on baseline hematologic parameters and SCD-specific comorbidities were collected from review of electronic records. Results A total of 116 patients, 85 (73%) with hemoglobin SC disease and 31 (27%) with Sβ+-thalassemia, were included for analysis. Thirty-two (28%) patients had a verified history of non-catheter related VTE. Mean baseline hemoglobin levels were higher among individuals with a history of VTE compared to those without (11.7 g/dL vs. 11.0 g/dL, p=0.003). In addition, the prevalence of surgical splenectomy was higher among patients with VTE compared to those without (25.0% vs. 4.8%, p=0.001). On multivariate analysis, elevated baseline hemoglobin (odds ratio [OR] 2.45 (95% confidence interval [CI] 1.42–4.23) and history of surgical splenectomy (OR 5.76 [CI 1.43–23.22) were independently associated with VTE risk. Conclusions Higher baseline hemoglobin is a risk factor for non-catheter-related VTE in patients with hemoglobin SC or Sβ+ thalassemia genotypes. Surgical splenectomy, which is a known risk factor for VTE in other hemoglobinopathies such as β-thalassemia intermedia, is also associated with VTE in sickle variant syndromes. Future studies are needed to validate these findings and to investigate the mechanisms of hypercoagulability observed in patients with hemoglobin SC and Sβ+ thalassemia.

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Objective: Children with infantile spasms may develop Lennox-Gastaut syndrome. The diagnostic criteria for Lennox-Gastaut syndrome are vague, and many experts use varying combinations of the following criteria for diagnosis: paroxysmal fast activity on electroencephalography (EEG), slow spike and wave on EEG, developmental delay, multiple seizure types, and nocturnal tonic seizures. Our objective was to determine the prevalence of Lennox-Gastaut syndrome in a high-risk cohort of children with a history of infantile spasms and the characteristics of infantile spasms that were associated with the diagnosis of Lennox-Gastaut syndrome. Methods: Children with infantile spasms who were diagnosed and treated at Children’s Hospital Colorado between 2012 and 2018 were included. Lennox-Gastaut syndrome was defined as having 3 of 5 of the following characteristics: paroxysmal fast activity, slow spike and wave, current developmental delay, multiple seizure types, or tonic seizures. Descriptive statistics were performed using median and interquartile range. Univariable analysis was performed with Pearson chi-square, Fisher exact, or the Kruskal-Wallis test. Results: Ninety-seven children met inclusion criteria, and 36% (35/97) met criteria for Lennox-Gastaut syndrome. Developmental delay and history of seizures prior to the onset of infantile spasms were identified as risk factors for the development of Lennox-Gastaut syndrome ( P = .003) as was poor response to first treatment for spasms ( P = .004). Children with an unknown etiology of infantile spasms were less likely to develop Lennox-Gastaut syndrome ( P = .019). Eighty percent (28/35) of the children who met Lennox-Gastaut syndrome criteria lacked a documented diagnosis. Conclusions: Thirty-six percent of children with infantile spasms met criteria for Lennox-Gastaut syndrome. Risk factors for development of Lennox-Gastaut syndrome were developmental delay and seizures prior to the onset of infantile spasms and poor response to first treatment for infantile spasms. Children with an unknown etiology of infantile spasms were less likely to develop Lennox-Gastaut syndrome. Eighty percent of the children who met our criteria were not given a documented diagnosis of Lennox-Gastaut syndrome, which highlights the fact that many children may not be receiving a diagnosis of Lennox-Gastaut syndrome. We recommend establishing clear guidelines for the diagnosis of Lennox-Gastaut syndrome to ensure that the diagnosis is being made accurately.

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