scholarly journals Pediatric Acute Liver Failure in Sickle Cell Disease

2021 ◽  
pp. 1-5
Author(s):  
Luís Rodrigues ◽  
Sofia Almeida ◽  
Catarina Salgado ◽  
Cristina Gonçalves
Keyword(s):  
Sickle Cell Disease ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Sickle Cell ◽  
Exchange Transfusion ◽  
Cell Disease ◽  
Case Presentation ◽  
History Of ◽  
Fatal Liver Failure ◽  
Pediatric Acute Liver Failure

<b><i>Introduction:</i></b> Sickle cell intrahepatic cholestasis (SCIC) is one of the rarest and the most severe acute hepatic manifestations of sickle cell disease (SCD) and it can rapidly progress to acute liver failure. It is associated with a high mortality rate, demanding prompt recognition and management. <b><i>Case Presentation:</i></b> We report a case of a 7-year-old boy with a history of homozygous HbS SCD who presented to the emergency department with fever, increasing abdominal pain, and jaundice. His course was complicated by acute liver injury (AST 9,472 IU/L, ALT 2,683 IU/L, total bilirubin 15.4 mg/dL; conjugated bilirubin 8.69 mg/dL, hypoalbuminemia 2.6 g/dL, and persistent hypoglycemia), with acute liver failure (coagulopathy not corrected by vitamin K administration with INR 3.26, decreased factors V 10% and VII 28%, and West Haven grade I hepatic encephalopathy associated with mild hyperammonemia of 71 µmol/L). After excluding other causes of acute liver failure, the patient was diagnosed as having SCIC and was successfully treated with manual exchange transfusion. <b><i>Conclusion:</i></b> This case reinforces that exchange transfusion is an effective treatment for SCIC and that it should be introduced promptly to prevent fulminant and potentially fatal liver failure.

Splenic and Liver Involvement in Sickle Cell Disease

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4763-4763
Author(s):  
Giovanna Graziadei ◽  
Alessia Marcon ◽  
Ilaria Gandolfi ◽  
Martina Soldarini ◽  
Erika Poggiali ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Sickle Cell Disease ◽  
Liver Failure ◽  
Sickle Cell ◽  
Exchange Transfusion ◽  
Adult Life ◽  
Liver Involvement ◽  
Cell Disease ◽  
The Mean

Abstract Abstract 4763 Background. Sickle Cell Disease (SCD) is one of the most common severe monogenic inherited disorder worldwide characterized by the presence of hemoglobin S (HbS). HbS causes Hb polimerization leading to hemolytic anemia and vaso-occlusion due to erythrocyte rigidity, and is responsible of clinical acute events and chronic progressive multiorgan damage, which becomes evident with increasing age. The term SCD is used to refer to all the different genotypes: Sickle Cell Anemia (SCA) referring to homozygosis for βS allele; HbS/β-thalassemia, compound of β-thal and βS allele (T-SCD); and HbSC disease, owing to the coinheritance of βS and βcalleles. In Italy T-SCD is more frequent than SCA (70% vs 30% of SCD patients). Aims. This retrospective study involved 63 adult SCD patients of the Hereditary Anemia Centre of the Foundation IRCCS “Ca' Granda” Ospedale Maggiore Policlinico, in Milan, Italy. The aim was to assess and compare splenic and liver involvement in SCA and T-SCD patients. Methods. Mutation analysis of the b globin gene was performed by direct DNA sequencing by the ABI Prism 310 genetic analyzer. Clinical and hematological parameters were evaluated by routine tests and physical examination according to guidelines for SCD follow-up. Results. Sixty-three adult SCD patients, 19 SCA and 44 T-SCD patients, were evaluated. The b mutations detected in T-SCD were severe (b°) in 69.8%, and moderate or mild (b+-b++) in 30.2% of patients. The mean age of SCA patients was 36±8 and 41±11 years for T-SCD patients. For both groups the mean follow-up was 20±6 years and the mean age at the presentation to our Centre was 32±8 years. Five out of 19 (26.3%) of SCA group and 17/44 (38.6%) of T-SCD group were male. HbF mean levels were 7.7±4.9% and 10.7±7.5% respectively in SCA and T-SCD; Hb total mean levels were lower in SCA (9.2±1.2 g/dl) than in T-SCD (10.3±3.2 g/dl) patients. Comparing SCA and T-SCD patients, there was not statistically significant difference in the prevalence of clinical manifestations, except for splenic features. Splenectomy was performed in 3/19 (15.8%) SCA patients vs 23/44 (52.3%) T-SCD patients (p-value < 0.001). For the remaining patients, splenomegaly was absent in SCA, while was detected in 11/21 (52.4%) T-SCD. All SCA patients (100%) had functional asplenia, which was absent in T-SCD patients. Splenic infarctions were present in 2/16 (12.5%) SCA patients and in 6/21 (28.6%) T-SCD patients, of whom 5 had splenomegaly and one normal spleen size (pvalue <0.001). Liver damage is a clinical characteristic complication of adult life and plays an important role in the outcome of adult SCD patients. In our two groups 1/19 (5.3%) SCA and 3/44 (6.8%) T-SCD patients showed a severe alteration in cholestatic liver indices, and all of them showed high values of liver stiffness (KPa) detected by transient elastography suggesting cirrhosis in the SCA patient and fibrosis in the other ones. We underline a more severe increase of cholestatic indices if compared with the alterations of necrotic and stasis liver indices. Signs of liver failure were present in the SCA patient and in one of T-SCD patients. Both patients underwent to liver trans-jugular biopsy in order to evaluate the degree of liver damage. Trans-jugular approach was chosen because of high risk of bleeding with percutaneous procedure. Liver histology of the SCA patient showed signs of necrotic-inflammatory activity with packed sickle cells in the liver sinusoids, suggestive for “sickle liver cirrhosis”, while the biopsy of the T-SCD patient showed only liver fibrosis. They underwent to exchange transfusion in order to reduce the amount of sickling and were candidate to liver transplant. Conclusions. These data suggest that T-SCD patients, particularly those with severe b mutations, have similar clinical course than SCA patients. Splenomegaly is present only in T-SCD patients and seems to induce splenic infarctions. Only SCA patients experience functional asplenia. Liver involvement, a severe complication of the adult life, is characterized in both groups by sickle cholestatic liver involvement, that can lead to liver failure and, in some cases, to liver transplantation. Exchange transfusion, if started early at the diagnosis of liver disease, can avoid liver transplantation in some selected cases. Disclosures: Cappellini: Novartis Pharmaceuticals: Honoraria, Research Funding.

Acute liver failure at 26 weeks' gestation in a patient with sickle cell disease

2009 ◽  
Vol 15 (10) ◽  
pp. 1236-1241 ◽  
Author(s):  
Mara Greenberg ◽  
Tami J. Daugherty ◽  
Arvand Elihu ◽  
Ravi Sharaf ◽  
Waldo Concepcion ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Sickle Cell ◽  
Cell Disease

scholarly journals To Give or Not to Give: RhD Immunoglobulin for an RHD*39 Pregnant Woman with Sickle Cell Disease

2021 ◽  
pp. 1-5
Author(s):  
Justin E. Juskewitch ◽  
Craig D. Tauscher ◽  
Sheila K. Moldenhauer ◽  
Jennifer E. Schieber ◽  
Eapen K. Jacob ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Pregnancy Termination ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Childbearing Age ◽  
Procedural Complications ◽  
History Of ◽  
Chronic Hemolysis

Introduction: Patients with sickle cell disease (SCD) have repeated episodes of red blood cell (RBC) sickling and microvascular occlusion that manifest as pain crises, acute chest syndrome, and chronic hemolysis. These clinical sequelae usually increase during pregnancy. Given the racial distribution of SCD, patients with SCD are also more likely to have rarer RBC antigen genotypes than RBC donor populations. We present the management and clinical outcome of a 21-year-old pregnant woman with SCD and an RHD*39 (RhD[S103P], G-negative) variant. Case Presentation: Ms. S is B positive with a reported history of anti-D, anti-C, and anti-E alloantibodies (anti-G testing unknown). Genetic testing revealed both an RHD*39 and homozygous partial RHCE*ceVS.02 genotype. Absorption/elution testing confirmed the presence of anti-G, anti-C, and anti-E alloantibodies but could not definitively determine the presence/absence of an anti-D alloantibody. Ms. S desired to undergo elective pregnancy termination and the need for postprocedural RhD immunoglobulin (RhIG) was posed. Given that only the G antigen site is changed in an RHD*39 genotype and the potential risk of RhIG triggering a hyperhemolytic episode in an SCD patient, RhIG was not administered. There were no procedural complications. Follow-up testing at 10 weeks showed no increase in RBC alloantibody strength. Discussion/Conclusion: Ms. S represents a rare RHD*39 and partial RHCE*ceVS.02 genotype which did not further alloimmunize in the absence of RhIG administration. Her case also highlights the importance of routine anti-G alloantibody testing in women of childbearing age with apparent anti-D and anti-C alloantibodies.

scholarly journals Concurrent Bilateral Central Retinal Artery Occlusion Secondary to Sickle Cell Crisis

2021 ◽  
Vol 9 ◽  
pp. 232470962110283
Author(s):  
Gowri Renganathan ◽  
Piruthiviraj Natarajan ◽  
Lela Ruck ◽  
Roberto Prieto ◽  
Bharat Ved Prakash ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Vision Loss ◽  
Central Retinal Artery Occlusion ◽  
Retinal Artery Occlusion ◽  
Artery Occlusion ◽  
Cell Disease ◽  
Sickle Cell Crisis ◽  
History Of ◽  
Retinal Artery

Vascular occlusive crisis with a concurrent vision loss on both eyes is one of the most devastating disability for sickle cell disease patients. Reportedly occlusive crisis in the eyes is usually temporary whereas if not appropriately managed can result in permanent vision loss. A carefully managed sickle cell crisis could prevent multiple disabilities including blindness and stroke. We report a case of a 24-year-old female with a history of sickle cell disease who had acute bilateral vision loss during a sickle crisis and recovered significantly with a timely emergent erythrocytapheresis.

scholarly journals History of Pain is Associated with Hospitalization and Severe Course of COVID-19 in Children with Sickle Cell Disease

2021 ◽  
Vol 22 (5) ◽  
pp. 607-608
Author(s):  
Lana Mucalo ◽  
Amanda Brandow ◽  
Mahua Dasgupta ◽  
Sadie Mason ◽  
Pippa Simpson ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
History Of ◽  
History Of Pain

The natural history of sickle cell disease

1998 ◽  
Vol 10 (1) ◽  
pp. 49-52 ◽  
Author(s):  
Carolyn Hoppe ◽  
Lori Styles ◽  
Elliott Vichinsky
Keyword(s):  
Sickle Cell Disease ◽  
Natural History ◽  
Sickle Cell ◽  
Cell Disease ◽  
History Of

scholarly journals Prevalence and Predisposing Factors of Atrial Fibrillation in a Multi-Ethnic Society: The Impact of Racial Differences in Bahrain

2011 ◽  
Vol 4 ◽  
pp. OJCS.S8032 ◽  
Author(s):  
Taysir Garadah ◽  
Saleh Gabani ◽  
Mohamed Al Alawi ◽  
Ahmed Abu-Taleb
Keyword(s):  
Atrial Fibrillation ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Middle Eastern ◽  
Predisposing Factors ◽  
Cell Disease ◽  
Clinical Events ◽  
History Of ◽  
The Mean ◽  
One Year

Background The prevalence and epidemiological data of atrial fibrillation (AF) among multi-ethnic populations is less well studied worldwide. Aim Evaluation of the prevalence and predisposing factors of AF in patients who were admitted to acute medical emergencies (ER) in Bahrain over the period of one year. Methods Two hundred and fifty three patients with onset of AF were studied. The mean difference of biochemical data and clinical characteristics between Middle Eastern (ME) and sub continental (SC) patients was evaluated. The odds ratio of different predisposing factors for the development of clinical events in AF patients was assessed using multiple logistic regression analysis. Results Out of 7,450 patients that were admitted to ER over one year, 253 had AF based on twelve leads Electrocardiogram (ECG), with prevalence of 3.4%. In the whole study, the mean age was 59.45 ± 18.27 years, with 164 (65%) male. There were 150 ME patients (59%), and 107 (41%) SC, 55 (22%) were Indian (IND) and 48 (19%) were South Asian (SA). In the whole study clinical presentation was of 48% for palpitation, pulmonary edema was of 14%, angina pectoris on rest of 12%, 10% had embolic phenomena, 6% had dizziness, and 7% were asymptomatic. The odds ratio of different variables for occurrence of clinical events in the study was positive of 2.2 for history of hypertension, 1.8 for sickle cell disease, 1.2 for high body mass index (BMI) >30, 1.1 for mitral valve disease. The ME patients, compared with SC, were older, had significantly higher body mass index, higher history of rheumatic valve disease, sickle cell disease with high level of uric acid and lower hemoglobin. The history of hypertension, DM and smoking was higher among the SC patients. The rate of thyroid disease was equal in both groups. Conclusion The prevalence of atrial fibrillation was 3.4% with male predominance of 65%. Patients of sub continental origin were younger with a significantly high history of hypertension and ischemic heart disease. The patients of Middle Eastern origin had significantly high rate of rheumatic heart disease, and sickle cell disease. The history of hypertension was the most important independent clinical predictor of adverse events in patients presented with AF.

Attention Deficits in Children with Sickle Cell Disease

2002 ◽  
Vol 95 (1) ◽  
pp. 57-67 ◽  
Author(s):  
Nina A. Nabors ◽  
Angela K. Freymuth
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Adaptive Functioning ◽  
Prior History ◽  
Cell Disease ◽  
Attentional Deficits ◽  
Wide Range Achievement Test ◽  
Wide Range ◽  
History Of ◽  
Timed Test

Previous research has suggested that children with sickle cell disease may exhibit cognitive deficits even in the absence of direct cerebrovascular involvement (stroke). This study was designed to assess specific attentional deficits in children with sickle cell disease. 12 children with sickle cell disease (Hb SS) with a prior history of stroke, 14 children with sickle cell disease (Hb SS) without evidence of stroke, and 13 similar aged siblings (Hb AA or Hb AS) were compared on measures of attention, intellectual functioning, achievement, and adaptive Functioning, Significant differences were found between children with sickle cell disease (with or without stroke) and healthy controls on a timed test of visual scanning, the Coding subtest of the Wechsler Intelligence Scale for Children—Revised, and subtests of Reading, Arithmetic, and Spelling from the Wide Range Achievement Test-Revised. The differences between children with sickle cell disease and their healthy siblings appear to be the result of strokes rather than sickle cell disease itself as children with sickle cell disease without strokes did not significantly differ from controls. Implications for the effects of sickle cell disease and stroke on academic performance are discussed.

scholarly journals Alkaline Phosphatase Is Associated with Red Cell Alloimmunization in the Pulmonary Hypertension and Hypoxic Response (PUSH) Sickle Cell Disease Cohort

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 20-20
Author(s):  
Victoria Brooks ◽  
Oluwalonimi Adebowale ◽  
Victor R. Gordeuk ◽  
Sergei Nekhai ◽  
James G. Taylor
Keyword(s):  
Risk Factors ◽  
Alkaline Phosphatase ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Research Funding ◽  
Severe Disease ◽  
Case Control ◽  
Red Cell ◽  
Cell Disease ◽  
History Of

Background: Blood transfusion is a common therapy for sickle cell disease (SCD). Although, highly effective, a major limitation is development of alloantibodies to minor blood group antigens on donor red cells. Alloimmunization has a prevalence of 2-5% for transfusions in the general population, but it is significantly higher in SCD. Risk factors for alloimmunization have been poorly characterized, although number of lifetime transfusions is an important risk factor. Alloimmunization has been clinically observed in children with a prevalence of about 7%. With development of each antibody, blood donor matching becomes increasingly difficult and expensive with an increased risk for transfusion reactions and diminished availability of compatible red cell units for treatment of SCD. The ability to identify risk factors for developing alloantibodies would be beneficial for clinicians. To identify markers for alloimmunization in SCD, we have analyzed children and adults who developed this complication. Methods: We analyzed The Pulmonary Hypertension and Hypoxic Response in Sickle Cell Disease (PUSH) study, which enrolled n=468 pediatric and n=59 adult SCD subjects. In both children and adults, alloimmunization cases were defined as a history of at least 1 alloantibody. Controls in both cohorts were defined as subjects with no history of alloantibodies and receipt of more than 10 lifetime red cell transfusions. All others within the study who did not meet these criteria were assigned to a third comparison group. To identify differences between cases, controls and all others, we performed univariate analyses (using ANOVA or Kruskal Wallace where appropriate) for clinical parameters and laboratories. Case control comparisons were also performed for selected variables and plasma levels for 11 cytokines. Results were further analyzed using regression modeling. Results: The overall prevalence of alloimmunization was 7.3% among children (34/468 subjects; median age 12, range 3-20 years) compared to 28.8% in adults (17/59 subjects; median age 37, range 18-73 years). When only considering those with &gt;10 lifetime transfusions, the prevalence was considerably higher at 29.3% and 54.8% in children and adults, respectively. At the same time, 8 pediatric (23.5%) and 5 adult (29.4%) alloimmunization cases had received fewer than 10 transfusions. In a 3-way pediatric cohort comparison (cases, controls and all others), risk factors associated with alloimmunization included SS genotype, older age and markers of more severe disease (higher ferritin, WBCs, platelets and total bilirubin). Comparison of cases to controls showed alkaline phosphatase (P=0.05) was significantly lower in cases, whereas AST (P=0.02) was significantly higher even with adjustment for age. Levels of plasma cytokines MCP-1 (P=0.01) and IFNgamma (P=0.08) were lower in cases from a subset of the pediatric cohort. In adults, only 4/59 (6.8%) subjects had never received a lifetime transfusion (all non-SS). In the adult 3-way comparisons, only SS genotype and higher ferritin were associated with alloimmunization. The adult case control analysis showed higher absolute monocyte count (P=0.02), absolute eosinophil count (P=0.04) and absolute basophil count (P=0.008) in association with alloimmunization cases. In addition, alkaline phosphatase was again significantly lower among cases (P=0.02) as seen in the pediatric cohort. There were no significant differences in cytokine levels among adults. Conclusions: When considering only transfused SCD patients, the prevalence of alloimmunization is higher than 30%. As seen in prior studies, higher lifetime red cell transfusions are an important risk factor especially among adults where most patients have received transfusions. Children who develop alloantibodies appear to have laboratory markers of more severe disease, but this is not observed in adults. A novel association observed across both pediatric and adult subjects is a significantly lower serum alkaline phosphatase in those with alloantibodies. The results of this study suggest a need for improved tracking of red cell transfusion therapy in the US for SCD patients due to a high prevalence of alloimmunization. Further study is also needed to elucidate the significance of the alkaline phosphatase association. Disclosures Gordeuk: CSL Behring: Consultancy, Research Funding; Global Blood Therapeutics: Consultancy, Research Funding; Novartis: Consultancy; Ironwood: Research Funding; Imara: Research Funding.

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