Health Status of Offspring Conceived During Hydroxyurea Therapy for Sickle Cell Disease.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 1533-1533
Author(s):  
Saloni Tanna ◽  
Betsy Clair ◽  
Sejal Kuthiala ◽  
Teresa A. Coleman ◽  
Abdullah Kutlar
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Attention Deficit Disorder ◽  
Life Support ◽  
Conflicts Of Interest ◽  
Case Reports ◽  
National Registry ◽  
Cell Disease ◽  
Apgar Scores

Abstract Abstract 1533 Poster Board I-556 Hydroxyurea (HU) is an S-phase specific cytotoxic agent (pregnancy category D), approved for use in sickle cell disease (SCD) primarily due to its ability to augment production of fetal hemoglobin (HbF), which has been shown to reduce the frequency of pain crises and decrease the need for blood transfusions. In all animal species tested, HU produced an increase in congenital anomalies. Defects of the central nervous system, palate, and skeleton occurred in rats treated with HU in the ninth to twelfth gestational days. Embyonic cytotoxicity may be secondary to formation of reactive free radicals. Because of its teratogenic potential, patients with SCD are instructed to practice contraception while on HU therapy. However, risks associated with maternal or paternal HU exposure at the time of conception is unclear. Our review of the literature has only shown six case reports of HU exposure in pregnancy for the treatment of SCD. Two of these pregnancies were terminated with medical abortion, the remaining four cases described liveborn infants with normal phenotypes at 15 to 21 months of follow up. 236 patients followed at the Medical College of Georgia Sickle Cell Center have been on HU for a period of 6 months to 14 years. Despite precautionary counseling, we have identified seven women and three men with SCD who have conceived while on HU therapy. We analyzed the birth records of ten children conceived during HU therapy. The duration of HU therapy varied from 2 weeks to 3 years at the time pregnancy was diagnosed; gestational age when HU was discontinued ranged from 3 to 10.5 weeks. Some children were born prematurely or preterm, with birth weights ranging from 922 to 3178 grams. APGAR scores ranged from 2 to 9 for the first minute and 8 to 10 for the five minute score. One child who had been born severely premature at 26 weeks with a birth weight of 922 grams and APGAR scores of 2 and 8 at one and five minutes to a father who had been on HU at the time of conception was ultimately withdrawn from life support measures. The remaining nine children were assessed for appropriate development by questionnaires provided to parents as well as pediatric records when available. One child with APGAR scores of 5 and 9 has been diagnosed with mental retardation and attention deficit disorder. Developmentally, the other eight children have achieved appropriate milestones. Women with sickle cell disease are more likely to develop complications such as intrauterine growth retardation and preterm delivery than those without the disease. These findings suggest that children conceived on HU therapy are not significantly different from other infants born to parents with SCD who are not on HU. Our sample size is not large enough to observe the potential effects of in utero HU exposure. The small number of subjects is likely secondary to potential teratogenicity discouraging women to become pregnant as well as paucity of exposed pregnancies due to menstrual disturbances induced by HU. It is therefore important to develop and maintain a national registry to allow longer follow up of exposed children and more careful assessment of fetotoxic effects for those conceived during HU therapy for SCD. Disclosures No relevant conflicts of interest to declare.

scholarly journals Hydroxyurea Is Associated with Early Onset Malaria Episode in Treated Sickle Cell Disease Patients

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 4868-4868
Author(s):  
Aldiouma Guindo ◽  
Yeya dit Sadio Sarro ◽  
Boubacari Ali Toure ◽  
Baba Fane ◽  
Mody Coulibaly ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Malaria Incidence ◽  
Treated Group ◽  
Malaria Episode ◽  
Cell Disease ◽  
African Countries ◽  
Control Center

Abstract Hydroxyurea (HU) is the only drug which has demonstrated efficacy in terms of reduced incidence of VOC and ACS, reduced need for hospitalization and reduced number of blood transfusion in sickle cell disease. African countries are among those with highest rate of both malaria and sickle cell disease. Despite of that the heterozygous form (HbAS) is known to protect against malaria, there is no documented studies on the clinical effect of HU on malaria. 36 patients aged 4 to 60 years old and treated by HU at the sickle cell disease research and control center of Bamako for at least 2 years. The treated group was compared to a matched untreated sickle cell patients group. During the follow-up, malaria incidence and onset to clinical episode of malaria were compared between treated SCD patients and untreated group. Results of the comparison show that there is no increased incidence of malaria in the treated group after 2 years follow-up (P=0.9). However, a reduction on the time to first malaria episode within the sickle cell population treated with HU was observed (P=0002).Based on this observed reduced time to first malaria episode in HU treated SCD patients, the use of HU in malaria endemic areas needs to be revaluated. It is howether clear that a more comprehensive approach would hopefully reduce the morbidity due to HU use for SCD affected children. Disclosures No relevant conflicts of interest to declare.

scholarly journals Hydroxyurea to Treat Pediatric Sickle Cell Disease in Haiti - a Preliminary Report

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 1313-1313
Author(s):  
Nicholas McGregor ◽  
Emmeline Lerebours ◽  
Prasad Bodas
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Laboratory Data ◽  
The United States ◽  
Western Hemisphere ◽  
Cell Disease ◽  
Open Label ◽  
Serious Adverse Events

Abstract Introduction. Haiti is the poorest nation in the Western Hemisphere, and the prevalence of sickle cell disease (SCD) in thatnation is twice that among African-Americans in the United States. Patients with SCD in Haiti have limited access to preventative care and disease management measures due to scarce healthcare resources. Hydroxyurea (HU) is a compelling option for the amelioration of complications of SCD in Haiti due to its relatively low cost, proven safety, and well-documented efficacy. Hydroxyurea programs have been implemented in India and in several African settings, however little data existto demonstrate the acceptability or feasibility of such an effort in Haiti. Study Design/Objectives. This is an open label, single arm pilot study with the primary objective of examining the acceptability and feasibility of the use of HU to treat children with SCD in an existing pediatric SCD program in Port-au-Prince, Haiti. Acceptability was defined as enrollment of a minimum of two-thirds of patients who are offered participation in the study. Feasibility was defined as two thirds of the enrolled patients being compliant with a defined minimum number of mandated study visits, lab draws, and HU doses. Secondary objectives include documenting the effect of HU on renal, hepatic, and bone marrow function as well as describing the incidence of clinical events in Haitian sickle cell patients taking HU. Methods. Patients with HbSS disease, age 2-15 years, who met minimum hematologic, renal, and hepatic parameters, were eligible for the study. Patients were approached for inclusion into the study consecutively during three separate enrollment periods from November 2015 through June 2016. The starting dose of Hydroxyurea (capsule and suspension form were available) was 20mg/kg which was increased to a maximum dose of 25mg/kg. Study visits occurred every 4 to 8 weeks at which point laboratory and clinical efficacy parameters, as well as potential adverse effects history were collected and dose modifications occurred. The study period for each patient will last 1 year. Akron Children's Hospital (ACH) IRB and the Haitian National Ethics Board approved the study. Funding for this project is provided through grants from the American Academy of Pediatrics and the ACH Foundation. Results. The study is ongoing with the enrollment period being closed as of June 2016. Forty-three patients have been enrolled, with a mean length of participation of 17.6 weeks (range 0-32 weeks).Forty-seven patients were offered participation in the study and 45 signed consent and underwent the screening process, generating an acceptability measure of 95.7%. Two out of the 45 screened patients were excluded based on results from screening labs (1 non-HbSS on confirmatory electrophoresis, 1 severe anemia) resulting in the final enrollment of 43 patients (23M:20F, mean age 9 years). Feasibility is being actively assessed.There have been no serious adverse events and no deaths. Three out of 43 enrolled patients were lost to follow-up and removed from the study due to missing 3 consecutive study visits (see figure 1). Compliance with mandated study visits was high among the enrolled patients with an attendance of 92.9% of the visits. Percent attainment of mandated laboratory tests is shown in table 1. No patients have had HU dose interruptions based on abnormal lab tests. Sixteen study patients have 6 month hematologic laboratory data available at this time: mean Hemoglobin and MCV have increased from 7.1 to 7.9g/dL and 90.6 to 107.1fL, respectively, and mean WBC and platelet count have decreased from 18.0 to 12.4(10^9/mL) and 557 to 413(10^9/mL), respectively. Conclusion. Results suggest that HU isan acceptable option for treating children with sickle cell disease in Haiti. Our preliminary data show that HU is feasible, safe, and effective in this setting. Challenges exist in ensuring reliable laboratory follow-up and will likely have to be addressed on an individual clinic and laboratory basis. Disclosures No relevant conflicts of interest to declare.

Optimizing Hydroxyurea Use in Children with Sickle Cell Disease: Least Tolerated Dose Is Effective

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4851-4851
Author(s):  
Sharef Waadallah Sharef ◽  
Maya Al-Hajri ◽  
Ismail Beshlawi ◽  
Amer Qais Al-Shahrabally ◽  
Yasser Wali
Keyword(s):  
Abdominal Pain ◽  
Side Effects ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Conflicts Of Interest ◽  
Annual Number ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Starting Dose

Abstract Abstract 4851 Background: Hydroxyurea (HU) is an antimetabolite that effectively ameliorates the course of sickle cell disease (SCD). Starting dose is usually 20 mg/kg/day and the dose is escalated up to 35 mg/kg/day in most of the centers. In Oman, due to high level of consanguinity, ethnic neutropenia affects around 10% of population rendering higher doses difficult to maintain in most of the patients. Materials and Methods: 161 patients (age 2–16 years, 61% male and 39% female) with SCD at Sultan Qaboos University Hospital, Muscat, Oman, were started on HU for clinically severe course (defined as: annual vaso occlusive crisis admissions more than 3, and/or occurrence of acute chest syndrome) with starting dose of 15 mg/kg and a mean dose of 18 mg/kg/day. All patients were included in the study except for 19 patients who were excluded for various reasons (8 lost follow up, 6 stopped HU by parents, and 5 stopped due to side effects: dizziness, abdominal pain, and myelosuppression). Remaining 142 patients were followed up for median treatment duration of 4 years (range, 1.5–10 years). Patients were assessed for clinical and laboratory response to HU. Results: There was significant reduction in the annual number of admissions due to vaso occlusive crisis (P <0.001, Wilcoxon Signed Ranks Test) with a mean of 4.7 and 1.5 before and after HU use respectively. There was also observed clinical improvement regarding the incidence of acute chest syndrome. Only 12 out of 39 patients initiated on HU for acute chest syndrome had a recurrent attack during a follow up period of 3–7 years. The laboratory parameters were consistent with previous reports: significant increase in hemoglobin level, fetal hemoglobin (HbF) level, Mean Corpuscular Volume, whereas significant decrease in platelet, absolute neutrophil, and absolute reticulocytic counts. All 142 patients tolerated the treatment well. Observed side effects included abdominal pain, dizziness, rash, tremor in one patient each. Of note, 21 patients (11.1%) developed neutropenia (ANC<1000 × 10̂9/l) while 7 patients (3.7%) had thrombocytopenia (<100 × 10̂9/l) which interrupted the treatment for period ranging from 3 weeks to 3 months only. Conclusion: In SCD patients with background of ethnic neutropenia, lower starting dose and limited range of dose escalation of HU ensured safety and yet did not affect efficacy. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Variability of Prognostic Results Based on Biological Parameters in Sickle Cell Disease Cohort Studies in Children: What Should Clinicians Know?

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 143
Author(s):  
Julie Sommet ◽  
Enora Le Roux ◽  
Bérengère Koehl ◽  
Zinedine Haouari ◽  
Damir Mohamed ◽  
...  
Keyword(s):  
Statistical Analysis ◽  
Sickle Cell Disease ◽  
Cohort Studies ◽  
Statistical Methods ◽  
Sickle Cell ◽  
Biological Parameters ◽  
Analysis Method ◽  
Cell Disease ◽  
Statistical Analysis Method

Background: Many pediatric studies describe the association between biological parameters (BP) and severity of sickle cell disease (SCD) using different methods to collect or to analyze BP. This article assesses the methods used for collection and subsequent statistical analysis of BP, and how these impact prognostic results in SCD children cohort studies. Methods: Firstly, we identified the collection and statistical methods used in published SCD cohort studies. Secondly, these methods were applied to our cohort of 375 SCD children, to evaluate the association of BP with cerebral vasculopathy (CV). Results: In 16 cohort studies, BP were collected either once or several times during follow-up. The identified methods in the statistical analysis were: (1) one baseline value per patient (2) last known value; (3) mean of all values; (4) modelling of all values in a two-stage approach. Applying these four different statistical methods to our cohort, the results and interpretation of the association between BP and CV were different depending on the method used. Conclusion: The BP prognostic value depends on the chosen statistical analysis method. Appropriate statistical analyses of prognostic factors in cohort studies should be considered and should enable valuable and reproducible conclusions.

scholarly journals Implementation of an Educational Intervention to Optimize Self-Management and Transition Readiness in Adolescents with Sickle Cell Disease

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 3536-3536
Author(s):  
Cecelia Calhoun ◽  
Regina Abel ◽  
Hai Anh Pham ◽  
Shomari Thompson ◽  
Allison A King
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Psychosocial Development ◽  
Sexual Development ◽  
Independent Living ◽  
Self Management ◽  
Cell Disease ◽  
Adult Care ◽  
Transition Readiness

Abstract Background: The transition from the pediatric setting to adult care is a challenge for many adolescents with chronic disease. Patients with sickle cell disease (SCD) represent a unique cohort as the timing of psychosocial development of adolescence often coincides with worsening end organ damage. Previously, we used the Adolescent Autonomy Checklist (AAC) modified to include SCD specific tasks that patients with SCD need to practice in order to transition to adult healthcare and independent living. This study sought to use the AAC to measure the effects of skill based educational handouts on improving self-management and transition readiness in adolescents with SCD. Methods: This was a single center, retrospective study approved by the Washington University Institutional Review Board. Inclusion criteria were patients with SCD, age 13-21 years, and completion of pre and post assessments. As standard care, patients from a pediatric hematology clinic completed the AAC-SCD. The AAC-SCD assesses skill level in twelve domains (Table). The tool includes 100 items, and users check "can do already" or "needs practice" for each item. After review with the coordinator, participants were given skill-based handouts based on up to five noted deficits. Patients completed the AAC-SCD at the subsequent clinic visit. In addition to baseline and follow up AAC-SCD data, medical and demographic data were collected via chart abstraction. All data were entered into SPSS for statistical analysis, including descriptives, paired sample T-tests, and bivariate Pearson's correlations. Results: A total of 61 patients completed baseline and follow up. Of those participants, 49.2% were female. The mean age was 15.4 (+ 2.2) years. The genotypic distribution was as follows: 67.2% HbSS, 19.7% HbSC, 3.3% HbS-beta-thal+ and 9.8% HbS-beta-thal0. The majority of patients received healthcare coverage via Medicaid (52.5%), private insurance (45.6%) and 1.6% had no insurance coverage. Twenty-five patients (42.0 %) had a history of stroke or silent cerebral infarct and 34 (55.7%) were currently taking or were previously prescribed hydroxyurea. Formal academic support (IEP or 504 Plan) was reported for 20 (32.8%) of patients. At baseline, patients needed the most help with skills in the kitchen, housekeeping, personal care and leisure. Statistically significant improvements (p< 0.05) occurred in skills related to laundry, housekeeping, healthcare, sexual development and living arrangements. Modest sized and statistically significant correlation between the receipt of the educational handouts and decreased number of items marked "needs help" occurred in the areas of money management (r=-0.27, p=0.044), vocational skills (r=-0.27, p=0.046;) and laundry (r=0.32, p=0.015). A post hoc analysis by age groups 13-15 (n= 34),16-18 (n=24) and 19-21 (n=3) showed a decreased amount of items marked "needs help" in the areas of sexual development for both 13-15 year olds (r=0.42, p=0.024) and 16-18 year olds (r=0.93, p=0.001) as well. Conclusion: Transition skills improved over time among adolescents with SCD. While we cannot say for certain if gains in knowledge occur with age as development progresses or if a formal transition program can be credited, providing educational materials on transition related skills within a clinic setting was associated with significant improvements in three of the domains. Our preliminary data offers insight into what skill deficits may be most amenable to educational interventions based on age group. As is the case with medical management, the development of a multimodal intervention is needed to prepare adolescents with SCD to transition to adult care and independent living. Clinic based education is a simple intervention that could be one component of future approaches to transition. Disclosures No relevant conflicts of interest to declare.

scholarly journals Ischemic Stroke in Children and Young Adults with Sickle Cell Disease (SCD) in the Post-STOP Era

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 68-68 ◽  
Author(s):  
Janet L. Kwiatkowski ◽  
Julie Kanter ◽  
Heather J. Fullerton ◽  
Jenifer Voeks ◽  
Ellen Debenham ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
High Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Stroke Prevention ◽  
Cell Disease ◽  
Clinical Series ◽  
The Mean

Abstract Background: The Stroke Prevention Trial in Sickle Cell Anemia (STOP) and Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) established routine transcranial Doppler ultrasound (TCD) screening with indefinite chronic red cell transfusions (CRCT) for children with abnormal TCD as standard of care. To identify children at high-risk of stroke, annual TCD screening is recommended from ages 2 to 16 years, with more frequent monitoring if the result is not normal. A reduction in stroke incidence in children with SCD has been reported in several clinical series and analyses utilizing large hospital databases when comparing rates before and after the publication of the STOP study in 1998. We sought to determine the rate of first ischemic stroke in a multicenter cohort of children who had previously participated in the STOP and/or STOP 2 trials and to determine whether these strokes were screening or treatment failures. Subjects and Methods: Between 1995 and 2005, STOP and STOP 2 (STOP/2) were conducted at 26 sites in the US and Canada. These studies included 3,835 children, ages 2 to 16 y with SCD type SS or S-beta-0-thalassemia. Participation in STOP/2 ranged from a single screening TCD to randomization. STOP 2 also had an observational arm for children on CRCT for abnormal TCD whose TCD had not reverted to normal. The Post-STOP study was designed to follow-up the outcomes of children who participated in one or both trials. 19 of the 26 original study sites participated in Post-STOP, contributing a total of 3,539 (92%) of the STOP/2 subjects. After exit from STOP/2, these children received TCD screening and treatment according to local practices. Data abstractors visited each clinical site and obtained retrospective data from STOP/2 study exit to 2012-2014 (depending on site) including follow-up TCD and brain imaging results, clinical information, and laboratory results. Two vascular neurologists, blinded to STOP/2 status and prior TCD and neuroimaging results, reviewed source records to confirm all ischemic strokes, defined as a symptomatic cerebral infarction; discordant opinions were resolved through discussion. For the first Post-STOP ischemic stroke, prior TCD result and treatment history subsequently were analyzed. Results: Of the 3,539 subjects, follow-up data were available for 2,850 (81%). Twelve children who had a stroke during STOP or STOP2 were excluded from these analyses resulting in data on 2,838 subjects. The mean age at the start of Post-STOP was 10.5 y and mean duration of follow-up after exiting STOP/2 was 9.1 y. A total of 69 first ischemic strokes occurred in the Post-STOP observation period (incidence 0.27 per 100 pt years). The mean age at time of stroke was 14.4±6.2 (median 13.8, range 3.5-28.9) y. Twenty-five of the 69 patients (36%) had documented abnormal TCD (STOP/2 or Post-STOP) prior to the stroke; 15 (60%) were receiving CRCT and 9 (36%) were not (treatment data not available for 1 subject). Among the 44 subjects without documented abnormal TCD, 29 (66%) had not had TCD re-screen in the Post-STOP period prior to the event; 7 of these 29 (24%) were 16 y or older at the start of Post-STOP, which is beyond the recommended screening age. Four of the 44 (9%) patients had inadequate TCD in Post-STOP (1 to 10.7 y prior to event). Six (14%) had normal TCD more than a year before the event (1.2 - 4 y); all but one of these children were younger than 16 y at the time of that TCD. Only 5 (11%) had a documented normal TCD less than 1 year prior to the event. Conclusions: In the Post-STOP era, the rate of first ischemic stroke was substantially lower than that reported in the Cooperative Study of Sickle Cell Disease, prior to implementation of TCD screening. Many (39%) of the Post-STOP ischemic strokes were associated with a failure to re-screen according to current guidelines, while only 11% occurred in children who had had recent low-risk TCD. Among those known to be at high risk prior to stroke, treatment refusal or inadequate treatment may have contributed. While TCD screening and treatment are effective at reducing ischemic stroke in clinical practice, significant gaps in screening and treatment, even at sites experienced in the STOP protocol, remain to be addressed. Closing these gaps should provide yet further reduction of ischemic stroke in SCD. Disclosures No relevant conflicts of interest to declare.

scholarly journals Myelopathy in sickle cell disease: a case-oriented review

2021 ◽  
Author(s):  
Igor Vilela Brum ◽  
Guilherme Diogo Silva ◽  
Diego Sant'Ana Sodre ◽  
Felipe Melo Nogueira ◽  
Samira Luisa dos Apostolos Pereira ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Case Reports ◽  
Spinal Cord Infarction ◽  
Sensory Level ◽  
Cell Disease ◽  
Hematopoietic Tissue ◽  
First Case

Background: Although neurological complications are well recognized in sickle cell disease (SCD), myelopathy has been rarely described. We present the first case report of longitudinally extensive myelitis (LETM) in SCD and review the differential diagnosis of myelopathy in these patients. Design and setting: case-oriented review. Methods: We report the case of a 29-year-old African-Brazilian man with SCD, who experienced a subacute flaccid paraparesis, with T2 sensory level and urinary retention. CSF analysis showed a lymphocytic pleocytosis and increased protein levels. MRI disclosed a longitudinally extensive spinal cord lesion, with a high T2/STIR signal extending from C2 to T12. Serum anti-aquaporin-4 antibody was negative. We searched Medline/ PubMed, Embase, Scopus, and Google Scholar databases for myelopathy in SCD patients. Results: Spinal cord compression by vertebral fractures, extramedullary hematopoietic tissue, and Salmonella epidural abscess have been reported in SCD. We found only three case reports of spinal cord infarction, which is unexpectedly infrequent compared to the prevalence of cerebral infarction in SCD. We found only one case report of varicella-zoster myelitis and no previous report of LETM in SCD patients. Conclusion: Specific and time-sensitive causes of myelopathy should be considered in SCD patients. In addition to compression and ischemia, LETM should be considered as a possible mechanism of spinal cord involvement in SCD.

scholarly journals Case Report: Acute Stroke in Young Adult Patient with Moyamoya Syndrome Secondary to Sickle Cell Disease

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 13-13
Author(s):  
Oladipo Cole ◽  
Asia Filatov ◽  
Javed Khanni ◽  
Patricio Espinosa
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Moyamoya Disease ◽  
Conflicts Of Interest ◽  
Acute Chest Syndrome ◽  
African American Female ◽  
Moyamoya Syndrome ◽  
Cell Disease ◽  
Radiographic Findings

Moyamoya disease, well described in literature, is a chronic cerebrovascular occlusive disorder. It is characterized by progressive stenosis/occlusion of the terminal portions of the internal carotid arteries (ICA) and the proximal portions of the middle cerebral arteries (MCA). Less frequently described is Moyamoya syndrome, the name given to radiographic findings consistent with Moyamoya disease, but with an identifiable cause. The diseases associated with Moyamoya Syndrome include Sickle Cell Disease (SCD), Thalassemias, and Down's Syndrome to name a few. Common complications of Moyamoya include both ischemic and hemorrhagic strokes. Upon literature review, Moyamoya syndrome caused by SCD is not well described. When it is, the discussion is centered around the pediatric patient population and surgical management. Our case report describes a 22-year-old African American female with SCD who initially presented with Acute Chest Syndrome. Her hospital course was complicated by development of overt debilitating neurologic deficits. Subsequently, she was found to have Moyamoya Syndrome on neuroimaging. She was successfully treated with medical management without any surgical intervention. This case highlights the necessity of thorough examination, differential diagnosis, imaging findings, and consideration of predisposing syndromes in the work-up for Moyamoya syndrome; especially individuals with Sickle Cell Disease. Disclosures No relevant conflicts of interest to declare.

scholarly journals Utility of Procalcitonin in Differentiating Acute Chest Syndrome from Vaso-Occlusive Crisis in Sickle Cell Disease

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 10-11
Author(s):  
Satish Maharaj ◽  
Simone Chang ◽  
Karan Seegobin ◽  
Marwan Shaikh ◽  
Kamila I. Cisak
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Complete Blood Count ◽  
Conflicts Of Interest ◽  
Statistical Significance ◽  
Acute Chest Syndrome ◽  
Adult Males ◽  
Cell Disease ◽  
Unequal Variances ◽  
Recorded Data

Background: Acute chest syndrome (ACS) frequently complicates sickle cell disease (SCD) and is a leading cause of hospitalization and mortality. Many factors have been implicated in ACS, including infections, thrombosis, fat and pulmonary emboli. However, a clear etiology is not defined in 50% of the cases and ACS is considered a clinical endpoint for different pathogenic processes (Vichinsky et al 2000). The non-specific nature of ACS makes diagnostic tests challenging, and there are no serum tests clinical used to aid diagnosis. Procalcitonin (PCT) is a prohormone of calcitonin and serum PCT rises within hours of an inflammatory stimulus. PCT has clinical utility as a marker of severe systemic inflammation, infection, and sepsis (Becker et al. 2008). Few studies have evaluated PCT as a biomarker for ACS in patients presenting with vaso-occlusive crises (VOC). Two studies have reported no difference in PCT (Biemond et al. 2018 and Stankovic et al 2011), while one study reported higher PCT between ACS and VOC (Patel et al 2014). Methods: We retrospectively reviewed 106 patients with SCD who presented to the emergency department with fever and painful crises during 2015-2019. The patients were divided into two categories based on discharge diagnoses - patients with VOC only (n=88) and patients with ACS (n=18). Inclusion criteria for both groups were patients with SCD, 17 years and older and PCT measurement on presentation. Exclusion criteria were defined as patients who had received empiric antibiotics prior to PCT testing. Data collected on presentation included genotype, age, gender, complete blood count, PCT, creatinine, total bilirubin and hydroxyurea use. Length of stay was recorded. Data was analyzed between the two groups using descriptive statistics and accounting for unequal variances, withp-value set at 0.05 for significance. Results: Demographics and clinical characteristics are summarized in Table 1 (Figure). The sample included primarily adult males (77%), with about two-thirds on hydroxyurea. Genotype HbSS (73.6%) was most prevalent followed by HbSC (22.6%) and HbSβ (3.8%). The ACS group had a higher percentage of HbSS, lower use of hydroxyurea and higher mean bilirubin. Mean PCT for the ACS group was 0.52 ng/mL (range, 0.05-2.04), compared to 0.31 ng/mL (range, 0.02-6.82) in the VOC group; withp=0.084. ROC analysis showed a PCT&gt;0.5ng/mL had 39% sensitivity and 85% specificity for ACS in this sample. Conclusion: In this sample, PCT on presentation was higher in those with ACS compared to VOC, but this difference did not achieve statistical significance. Further study in a larger population would be useful to evaluate this finding. Disclosures No relevant conflicts of interest to declare.

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