A 19-year-old man with sickle cell disease presenting with spinal infarction: a case report

Abstract Introduction Vasculopathy of the large vessels commonly occurs in sickle cell disease, and as a result cerebral infarction is a well characterized complication of this condition. However, spinal infarction appears to be rare. Spinal infarct is infrequent in the non-sickle cell population as well, and accounts for only about 1 percent of all central nervous system infarcts. Case presentation In the present work, we report the case of a 19-year-old African-American man with sickle cell disease who experienced an anterior spinal infarct and subsequent quadriplegia. He was incidentally noted to be a heterozygote for factor V Leiden. We also reviewed the literature and found two previous cases of spinal cord infarction and sickle hemoglobin. Our literature search did not demonstrate that heterozygocity for factor V Leiden plays an important role in spinal cord infarction. Conclusions The paucity of cases associated with sickle hemoglobin does not allow us to postulate any particular risk factors with sickle cell disease that might predispose patients to spinal cord infarction. Our patient’s case raises the question as to whether spinal cord infarction is being missed in individuals with sickle cell disease and neurologic symptoms

A Report from the GRNDaD Multi-site Registry for Sickle Cell Disease: Iron Overload is Under-recognized and Under-managed

Introduction: GRNDaD is a prospective registry for people with SCD that opened to enrollment in 2016. Nine comprehensive SCD centers from across the United States are currently enrolling patients. The registry includes iron status and management data, important in SCD because chronic transfusion therapy is a mainstay of prophylactic management. Each unit of transfused blood introduces approximately 250 mg of iron into the blood, which can lead to systemic iron deposition, and untreated may lead to organ dysfunction or death. Methods: GRNDaD currently contains prospective baseline and annual update information on approximately 1000 people with SCD. We analyzed ferritin levels relative to genotype, age, gender, treatment type, liver iron scan results, and chelation therapy history, using chi-squared and pearson statistics for discrete and continuous data, respectively. Results: There were 783 adults in GRNDaD who had a non-crisis ferritin level from a routine follow-up visit. Nearly 1 in 3 of all participants (n=187, 31.4%) had a baseline ferritin ≥1500 mg/dL. More than a third of that group were not on chelation, and only a quarter had imaging studies to assess iron accumulation. Ferritin levels were positively associated with liver enzymes, creatinine, and homozygous SCD phenotype. Conclusion: A significant fraction of the adult SCD population in GRNDaD is living with iron overload, and management could use vast improvement. We speculate that undertreated iron overload is probably both widespread and under-recognized. We anticipate that GRNDaD may be a model for identifying and addressing deficiencies in current clinical practices for management of SCD

Stroke in a child with hemoglobin SC disease: a case report describing use of hydroxyurea after transfusion therapy

Children with hemoglobin SC (HbSC) disease suffer a significant incidence of silent cerebral infarcts but stroke is rare. A 2-year-old African American boy with HbSC disease presented with focal neurologic deficits associated with magnetic resonance imaging evidence of cerebral infarction with vascular abnormalities. After the acute episode he was treated with monthly transfusions and subsequently transitioned to hydroxyurea therapy. The benefits of hydroxyurea as a fetal hemoglobin inducer in HbSC disease, to ameliorate clinical symptoms are supported by retrospective studies. This case highlights the rare occurrence of stroke in a child with HbSC disease and the use of hydroxyurea therapy

Patient Perception on Health Care Delivery for Sickle Cell Disease and Opportunities for Quality Improvement

The Health Resources and Services (HRSA)-sponsored Sickle Cell Disease (SCD)Treatment Demonstration Regional Collaborative Program, EMBRACE SCD Florida has three aims: 1. To educate providers about SCD, 2. To assess patients' perception on health care and barriers encountered, and 3. To increase hydroxyurea (HU) treatment as disease-modifying therapy. We report the patients' perception on health care delivery as assessed by surveys of 65 patients at two SCD centers in South Florida. All participants signed the IRB-approved informed consent/assent and completed a 46-question survey. Surveys addressed patient demographics, HU use, pain experienced, facility utilization and confidence in SCD doctors and primary care providers (PCPs). Parents represented 62 % of the sample respondents. There were 37 female and 28 male patients, with a mean age of 14.8 years, median 12 years (range 1-45). Patients were self-identified as SS (N=42, 65%), SC (N=8), sickle-β+ thalassemia (N=5), sickle-β0 thalassemia (N=2), other (N=1), and 7 (11%) did not know their genotype. Most (55%) were African-Americans; 26% Haitians, 12% Black non-African-American or other, and 6% were White. Nine percent were Hispanic. Insurance coverage was identified as Medicaid (75%), Managed Care Organization (7%), Medicare (13%), and private insurance (5%). Of the 44 patients with SS and Sβ0, 84% (N=37) received medical advice to take HU from SCD provider. In addition, 12 patients (4 unknown type, 5 Sβ+ and 3 SC) were advised to take HU for a total of 49 or 75% of all patients surveyed. Seventy-eight percent (N=38) of those agreed to be treated, and 22% (N=11) declined HU. Eighty-four percent of those who agreed to be treated (N=32) reported taking HU as prescribed. Those patients who have received HU identified many barriers: lack of money to pay (N=5), nausea (N=5), hair loss (N=1), do not like the taste (N=8), do not like to take medications so they either do not take it frequently (N=7) or force themselves to take it (N=12), lack of effectiveness for their pain (N=10), and forgetting to take HU (N=18). Eighteen of 49 (37%) said they had no problems taking HU. We asked all patients about their pain experience. Of the 63 who responded, 30 (47.6%) said pain was managed well all the time, whereas the rest perceived difficulties in pain management: 20 (31.7%), 12 (19%), and one (1.6%) perceived their pain was managed well 75% of time, 50% of the time, and 25% or less of the time, respectively. The frequency of taking pain medications was variable among patients. The most common frequency of taking pain medications was several times a month (24 of 63 or 38%), but ranged from taking pain medication daily (N=9, 14%) to never or almost never (N=10, 16%). The emergency room (ER) was the first place they would go to when they get sick. One patient reported he prefers staying home. Patients reported a median of two ER visits (range 0-45) and two hospitalizations (range 0-30) in the previous 12 months. Almost all (92%) patients reported having a PCP. Sixty-seven percent visited the PCP 1-3 times per year, whereas 88% visited the SCD doctor 4-12 times per year. Whereas 68.3% patients trusted their PCP to manage their SCD, their level of trust with the SCD doctor was 95.2% (p <0.01). Similarly, 68% patients agreed that both the PCP and the SCD doctor should share responsibilities in their care. The table shows what participants considered most important for their PCP and their SCD doctor to know or learn about SCD. The most common single thing participants would change about the health care system was insurance/health care coverage (N=7), improved communication with providers (N=4), better care (N=2), or to have a cure for SCD (N=2). Six would not change anything. Eighty-four percent of patients did not know how to contact Sickle Cell Disease of America (SCDAA). Nine patients or parents (14%) felt discriminated against by health providers (N=3, doctors, nurses, pharmacy) and others (N=6, employers, classmates, others) as a result of their SCD. We identified five opportunities for quality improvement: 1. Improve pain control as 52.4% patients viewed their pain was sub-optimally managed, 2. Further examine and decrease barriers for HU treatment, 3. PCP education, as 31.7% of patients lacked trust in their competence, 4. Educate and encourage patient interaction with community-based organizations like SCDAA, and 5. Explore policy change in health care insurance coverage. Table Disclosures Alvarez: Forma Therapeutics: Consultancy; Novartis: Consultancy. Clay:Novartis: Speakers Bureau. Black:NHLBI: Research Funding; Micelle BioPharma: Research Funding; Pfizer: Research Funding; Sancilio and Company: Research Funding; Sanofi: Consultancy; Prolong Pharmaceuticals: Consultancy; Novartis: Research Funding; HRSA: Research Funding. Osunkwo:Novartis: Consultancy, Speakers Bureau; Pfizer: Consultancy; Terumo: Speakers Bureau; Micella Biopharma: Other: DSMB member

Successful Quality Improvement Projects to Maximize Prescription Rates and Acceptance of Hydroxyurea Among Patients with Sickle Cell Anemia

Abstract Background: "Education and Mentoring to Bring Access to Care for SCD (EMBRACE SCD)"--U1EMC31108-- is a multicenter study sponsored by HRSA in the US southeastern region, which focuses on extending knowledge about sickle cell disease (SCD) to hematology and primary care providers and to improve the care of children and adults with SCD. In Florida we aimed to improve access by increasing prescription (RX) rates of hydroxyurea (HU), by at least 10% from baseline in patients with sickle cell anemia. Methods: Three SCD centers, assisted by three community-based organizations and with the support of two pediatricians with expertise in quality improvement (QI), were engaged in this QI project. The SCD centers are the University of Miami (UM), Salah Foundation at Broward Health and Johns Hopkins All Children's Hospital (JH). Data were abstracted locally and entered into REDCap by a central data manager. Run charts were created to assess data improvement. UM also assessed barriers using a parent/caregiver questionnaire administered at least 6 months after offering HU with the purpose of improving patient education and desire to take HU. Results: Beginning in June 2019 until June 2021, center clinicians concentrated in identifying all patients who were eligible for HU (namely, children 9 months and older with hemoglobin SS and hemoglobin SB 0thalassemia who were not on chronic transfusions). As a group, 50.2% (N=263) of patients were on hydroxyurea at entry (range 35.4-62.4 % among the sites) from a total of 524 eligible patients. The main organizing activities which allowed for higher percent were having a center patient database (done March 2019), educating all providers in the centers about the importance of HU as disease-modifying therapy, having a unified protocol for the education of parents and/or patients about HU benefits, and using visual aids (pictures) of erythrocytes pre and post HU treatment. The QI consultants met virtually with the Florida EMBRACE team monthly beginning June 2020 to increase engagement and interest in participating in this QI activity. We implemented a data collection sheet to track medical records every month to determine whether we were capturing all eligible patients. As depicted in the run chart, we surpassed the QI goal by ending with 64.8% (N=343) prescription rate (range 48.0-85.0 %) from a total of 529 eligible patients. From the 76 barrier assessment questionnaires given at UM, we identified 12 (15.8%) refusals. Seven of 12 refused because of fear of taking "chemotherapy", one because of fear of side effects, and four because their children's disease was considered mild. With further education, we decreased the refusals from 12 to 9. Conclusion: A unified approach to a QI project was successful among several centers in Florida, increasing the prescription rate of hydroxyurea by 14.6% among patients with sickle cell anemia. Acknowledgment: We acknowledge HRSA and region principal investigators for EMBRACE SCD Drs. Ify Osunkwo, Julie Kanter and John J. Strouse for their support in this work. Figure 1 Figure 1. Disclosures Alvarez: Forma Therapeutics: Membership on an entity's Board of Directors or advisory committees; GBT: Membership on an entity's Board of Directors or advisory committees. Clay: Novartis: Honoraria; GBT: Membership on an entity's Board of Directors or advisory committees

Successful quality improvement project to increase hydroxyurea prescriptions for children with sickle cell anaemia

Hydroxyurea (HU) is an effective but underused disease-modifying therapy for patients with sickle cell anaemia (SCA). EMBRACE SCD, a sickle cell disease treatment demonstration project, aimed to improve access to HU by increasing prescription (Rx) rates by at least 10% from baseline in children with SCA.The Model for Improvement was used as the quality improvement framework. HU Rx was assessed from clinical databases in three paediatric haematology centres. Children aged 9 months–18 years with SCA not on chronic transfusions were eligible for HU treatment. The health belief model was the conceptual framework to discuss with patients and promote HU acceptance. A visual aid showing erythrocytes under the effect of HU and the American Society of Hematology HU brochure were used as educational tools. At least 6 months after offering HU, a Barrier Assessment Questionnaire was given to assess reasons for HU acceptance and refusals. If HU was declined, the providers discussed with family again. We conducted chart audits to find missed opportunities to prescribe HU as one plan–do–study–act cycle.At initial measurement, 50.2% of 524 eligible patients had HU prescribed. During the testing and initial implementation phase, the mean performance after 10 data points was 53%. After 2 years, the mean performance was 59%, achieving an 11% increase in mean performance and a 29% increase from initial to the last measurement (64.8% HU Rx). During a 15-month period, 32.1% (N=168) of the eligible patients who were offered HU completed the barrier questionnaire with 19% (N=32) refusing HU, mostly based on not perceiving enough severity of their children’s SCA or fearing side effects.Reviewing patient charts for missed opportunity of offering HU with feedback and evaluating the reasons of declining HU via a questionnaire were key components in increasing HU Rx in our population

A 19-year-old man with sickle cell disease presenting with spinal infarction: a case report

INTRODUCTION: Vasculopathy of the large vessels commonly occurs in sickle cell disease, and as a result cerebral infarction is a well characterized complication of this condition. However, spinal infarction appears to be rare. Spinal infarct is infrequent in the non-sickle cell population as well, and accounts for only about 1 percent of all central nervous system infarcts. CASE PRESENTATION: In the present work, we report the case of a 19-year-old African-American man with sickle cell disease who experienced an anterior spinal infarct and subsequent quadriplegia. He was incidentally noted to be a heterozygote for factor V Leiden. We also reviewed the literature and found two previous cases of spinal cord infarction and sickle hemoglobin. Our literature search did not demonstrate that heterozygocity for factor V Leiden plays an important role in spinal cord infarction. CONCLUSIONS: The paucity of cases associated with sickle hemoglobin does not allow us to postulate any particular risk factors with sickle cell disease that might predispose patients to spinal cord infarction. Our patient’s case raises the question as to whether spinal cord infarction is being missed in individuals with sickle cell disease and neurologic symptoms