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Perioperative Medicine (London, England) Jun 2024Due to the distinctive nature of cardiac surgery, patients suffering from hereditary spherocytosis (HS) are potentially at a high risk of perioperative complications... (Review)
Review
BACKGROUND
Due to the distinctive nature of cardiac surgery, patients suffering from hereditary spherocytosis (HS) are potentially at a high risk of perioperative complications resulting from hemolysis. Despite being the most prevalent cause of hereditary chronic hemolysis, the standards of surgical management are based solely on expert opinion.
OBJECTIVE
We analyze the risk of hemolysis in HS patients after cardiac surgery based on a systematic review of the literature. We also describe a case of a patient with hereditary spherocytosis who underwent aortic valve repair.
METHODS
This systematic review was registered in the PROSPERO international prospective register of systematic reviews (CRD42023417666) and included records from Embase, MEDLINE, Web of Science, and Google Scholar databases. The case study investigates a 38-year-old patient who underwent surgery for an aortic valve defect in mid-2022.
RESULTS
Of the 787 search results, 21 studies describing 23 cases of HS undergoing cardiac surgery were included in the final analysis. Hemolysis was diagnosed in five patients (one coronary artery bypass graft surgery, two aortic valve bioprosthesis, one ventricular septal defect closure, and one mitral valve plasty). None of the patients died in the perioperative period. Also, no significant clinical hemolysis was observed in our patient during the perioperative period.
CONCLUSIONS
The literature data show that hemolysis is not common in patients with HS undergoing various cardiac surgery techniques. The typical management of a patient with mild/moderate HS does not appear to increase the risk of significant clinical hemolysis. Commonly accepted beliefs about factors inducing hemolysis during cardiac surgery may not be fully justified and require further investigation.
PubMed: 38858770
DOI: 10.1186/s13741-024-00411-w -
Pediatric Blood & Cancer Oct 2016To compare the clinical effectiveness of total splenectomy (TS) or partial splenectomy (PS) in pediatric hereditary spherocytosis, a systematic review and meta-analysis... (Comparative Study)
Comparative Study Meta-Analysis Review
To compare the clinical effectiveness of total splenectomy (TS) or partial splenectomy (PS) in pediatric hereditary spherocytosis, a systematic review and meta-analysis was performed (PROSPERO registration CRD42015030056). There were 14 observational studies comparing pre- and postoperative hematologic parameters. Secondary outcomes include in-hospital infections, surgical complications, symptomatic recurrence, and biliary disease. TS is more effective than PS to increase hemoglobin (3.6 g/dl vs. 2.2 g/dl) and reduce reticulocytes (12.5% vs. 6.5%) after 1 year; outcomes following PS are stable for at least 6 years. There were no cases of overwhelming postsplenectomy sepsis. A population-based patient registry is needed for long-term follow-up.
Topics: Child; Humans; Publication Bias; Quality of Life; Reticulocyte Count; Spherocytosis, Hereditary; Splenectomy
PubMed: 27300151
DOI: 10.1002/pbc.26106 -
Journal of Laparoendoscopic & Advanced... Jul 2020Concomitant laparoscopic splenectomy and cholecystectomy (CLSC) is performed for concurrent pathologies of the spleen and gallbladder. This systematic review aimed to...
Concomitant laparoscopic splenectomy and cholecystectomy (CLSC) is performed for concurrent pathologies of the spleen and gallbladder. This systematic review aimed to evaluate the available evidence on its indications, operative technique, and outcomes. The PubMed and Cochrane bibliographical databases were searched from the beginning of time (last search: December 6, 2019) for studies reporting on CLSC. The National Heart, Lung, and Blood Institute (NHLBI) quality assessment tool was utilized for the evaluation of eligible articles. Eight studies met inclusion criteria and concerned collectively 108 patients (53 males and 55 females) with a mean age of 27.02 ± 20.48 years (mean, SD). The most common surgery indications were hereditary spherocytosis (38.9%) and sickle cell disease or β-thalassemia (32.4%). Laparoscopic cholecystectomy preceded splenectomy in the majority of cases (75%). A five-trocar approach was most frequently (89.8%) utilized. The mean operation duration was 170.18 ± 53.07 minutes (mean, SD). Resected spleen weight was 601.82 ± 386.02 g (mean, SD) and had a length of 18.74 ± 5.3 cm (mean, SD). The conversion rate was 2.7%, while 20.4% of included cases experienced postoperative complications. Most frequent ones included pulmonary infection (6.5%) and portal/splenic vein thrombosis (4.6%). No postoperative death was recorded. Mean hospitalization period was 5.43 ± 3.18 days (mean, SD). CLSC is a safe and feasible operation for simultaneous diseases of the spleen and gallbladder that require elective procedures. High-quality clinical trials are essential to further elucidate clinical evidence and standardize operative technique.
Topics: Cholecystectomy, Laparoscopic; Gallbladder Diseases; Humans; Splenectomy; Splenic Diseases; Treatment Outcome
PubMed: 32202962
DOI: 10.1089/lap.2020.0004 -
International Journal of Laboratory... Apr 2022Membranopathies are a group of inherited blood disorders where the diagnosis could form a challenge due to phenotype-genotype heterogeneity. In this review, the usage... (Review)
Review
Membranopathies are a group of inherited blood disorders where the diagnosis could form a challenge due to phenotype-genotype heterogeneity. In this review, the usage and limitations of diagnostic methods for membranopathies in Asian countries were evaluated. A systematic review was done using articles from PubMed, Google Scholar, and EBSCO from 2000 to 2020. Thirty-six studies conducted in seven Asian countries had used different diagnostic methods to confirm membranopathies. In 58.3% of studies, full blood count (FBC), reticulocyte count, and peripheral blood smear (PBS) were used in preliminary diagnosis. The combination of the above three with osmotic fragility (OF) test was used in 38.8%. The flowcytometric osmotic fragility (FC-OF) test was used in 27.7% where it showed high sensitivity (92%-100%) and specificity (96%-98%). The eosin-5-maleimide (EMA) assay was used in 68.1% with high sensitivity (95%-100%) and specificity (93%-99.6%). About 36.1% of studies had used sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) as a further diagnostic method to detect defective proteins. Genetic analysis to identify mutations was done using Sanger sequencing, next-generation sequencing (NGS), and whole-exome sequencing (WES) in 33.3%, 22.2%, and 13.8% of studies, respectively. The diagnostic yield of NGS ranged from 63% to 100%. Proteomics was used in 5.5% of studies to support the diagnosis of membranopathies. A single method could not diagnose all membranopathies. Next-generation sequencing, Sanger sequencing, and proteomics will supplement the well-established screening and confirmatory methods, but not replace them in hereditary hemolytic anemia assessment.
Topics: Anemia, Hemolytic, Congenital; Erythrocyte Membrane; High-Throughput Nucleotide Sequencing; Humans; Osmotic Fragility; Spherocytosis, Hereditary; Exome Sequencing
PubMed: 35068068
DOI: 10.1111/ijlh.13800 -
Intractable & Rare Diseases Research May 2015Epidemiological information of hereditary spherocytosis in China is slight. This systematic review summarizes the number of cases of hereditary spherocytosis reported in...
A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model.
Epidemiological information of hereditary spherocytosis in China is slight. This systematic review summarizes the number of cases of hereditary spherocytosis reported in China Biology Medicine disc from 1978 to 2013. In total, 2,043 cases were reported in the past 36 years. We describe its distribution from time and space. We also estimate the literature reported prevalence of hereditary spherocytosis by DisMod-II software, overall prevalence in China was estimated to be: 1.27 cases per 100,000 people in males and 1.49 cases per 100,000 people in females. All results suggest a stronger network of diagnosis and treatment including all levels of hospitals should be created to improve healthcare for hereditary spherocytosis and even other rare diseases in the future, meanwhile we can obtain more useful information for orphan drug designation purposes and make public health decisions regarding such diseases through the use of the burden of disease models.
PubMed: 25984425
DOI: 10.5582/irdr.2015.01002 -
BMC Medical Genomics Dec 2022The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to...
BACKGROUND
The incidence of hereditary spherocytosis (HS) is approximately 1:2000 in the western population, while it is much lower in the Chinese population. It is difficult to make a definite diagnosis due to the variable genotypic features and the lack of well-documented evidence for HS patients. Gene sequence examination is helpful for clear diagnosis.
CASE PRESENTATION
We presented the case of a 29-year-old male HS patient with skin yellowness, anorexia, and cholecystolithiasis as the first manifestations. Laboratory examination of the patient and his parents showed a mild reduction in hemoglobin and mean corpuscular hemoglobin concentration, increased reticulocytes, and promotion of indirect bilirubin in the patient and his father. Furthermore, small globular red blood cells with increased osmotic fragility were observed. In particular, the eosin-5'-maleimide binding test provided the strong evidence that band 3 protein was deleted in the erythrocyte membrane. Next-generation sequencing (NGS) and Sanger sequencing further demonstrated a heterozygous nonsense variant (exon16, c.G1985A: p.W662X) in SLC4A1, inherited from his father. Thus, the patient was diagnosed with HS, and then was effectively treated. After splenectomy, the anemia was relieved without any obvious unpleasant side effects.
CONCLUSION
We report an extremely rare case of HS in China that presented with hereditary hemolytic anemia with band 3 deletion resulting from a novel variant of SLC4A1, and systematically review a large number of related literatures. This study, therefore, significantly contributes to the literature on HS.
Topics: Adult; Humans; Male; Anion Exchange Protein 1, Erythrocyte; Asian People; Erythrocytes; Genotype; Heterozygote; Spherocytosis, Hereditary
PubMed: 36463227
DOI: 10.1186/s12920-022-01399-2 -
World Journal of Surgery Jun 2019Laparoscopic partial splenectomy (LPS) is a challenging procedure. The aim of this review was to evaluate its feasibility, safety, and potential benefits.
BACKGROUND
Laparoscopic partial splenectomy (LPS) is a challenging procedure. The aim of this review was to evaluate its feasibility, safety, and potential benefits.
METHODS
We conducted a comprehensive review for the years 1995-2018 to retrieve all relevant articles.
RESULTS
A total of 44 studies with 252 patients undergoing LPS were reviewed. Six studies described combined operations. Ranges of operative time and estimated blood loss were 50-225 min and 0-1200 ml, respectively. There are eight patients need blood transfusion in 231 patients with available data. The conversion rate was 3.6% (9/252). Overall, 27 patients (10.7%;27/252) developed postoperative or intraoperative complications. Overall mortality was 0% (0/252). The length of postoperative stay (POS) varied (1-11 days). Among four comparative studies, one showed LPS could reduce POS than laparoscopic total splenectomy (LTS) (LTS 5.4 ± 1.8 days, LPS 4.2 ± 0.8 days, p = 0.027) and complications (pleural effusion (LTS 9/22, LPS 0/15, p = 0.005), splenic vein thrombosis (LTS 10/22, LPS 0/15, p = 0.002)). Another comparative study showed LPS may benefit emergency patients. However, one comparative study showed LPS was associated with more pain, longer time to oral intake, and longer POS in children with hereditary spherocytosis. The fourth comparative study showed robotic subtotal splenectomy was comparable to laparoscopy in terms of POS and complication. The main benefits were lower blood loss, vascular dissection time, and a better evaluation of splenic remnant volume.
CONCLUSIONS
In early series of highly selected patients, LPS appears to be feasible and safe when performed by experienced laparoscopic surgeons.
Topics: Blood Loss, Surgical; Blood Transfusion; Conversion to Open Surgery; Humans; Laparoscopy; Length of Stay; Operative Time; Postoperative Complications; Splenectomy
PubMed: 30767061
DOI: 10.1007/s00268-019-04946-8