RESUMEN

Herein, we present the case of a 17-month-old boy with asplenia, bilaterally absent pulmonary arteries, and bilateral patent ductus arteriosus, who underwent a successful Fontan operation. The central pulmonary artery was created using a pericardial roll, which was initially oversized due to the elevated pressure from the systemic-to-pulmonary shunt. The size of the roll was reduced through the process of pressure reduction by bidirectional Glenn and Fontan operations. This case provides an example of blood source-associated size transition of the pericardial roll used in the pulmonary position. Recognizing this phenomenon is vital for the successful management of this patient group.

RESUMEN

Babesiosis is a potentially life-threatening tick-borne parasitic infection. Severe disease in splenectomized individuals may require exchange transfusion. A 58-year-old male with a history of splenectomy presented with 2 weeks of subjective fever, weakness, and abdominal pain. He denied any rashes, tick bites, or recent travel. He had a motor vehicle accident a few years ago and had undergone an emergency splenectomy. On examination, the patient was febrile (39.3 °C), tachycardic (106/min), and jaundiced. Labs revealed anemia and thrombocytopenia. Computed tomography (CT) abdomen revealed asplenia. As it was summer, there was concern for a tick-borne illness. A peripheral smear showed schistocytes, and labs revealed hyperbilirubinemia, high lactate dehydrogenase (LDH), low haptoglobin, and reticulocytosis (13%), consistent with hemolysis. Testing for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Ehrlichia, Borrelia, Anaplasma, and viral hepatitis was negative. Antibody testing for Babesia microti was positive. A blood parasite smear confirmed Babesia microti with a parasitemia of 9.5%. The patient received intravenous azithromycin and atovaquone for severe babesiosis. On day 2 of hospitalization, parasitemia increased to 14.7%. Hemoglobin and platelets dropped further on day 3. His parasite load remained consistently above 10% despite medical treatment. A decision was made for a red blood cell (RBC) exchange transfusion for severe disease, which was performed on the fourth day of hospitalization. Clinical improvement was seen after one session of exchange RBC transfusion. Hemoglobin remained stable, and thrombocytopenia improved 1 day after RBC exchange transfusion. Parasitemia dropped to 1.2% after 4 days of exchange transfusion, and azithromycin was switched to oral. He received 9 days of inpatient azithromycin and atovaquone. He was discharged with a plan to continue the oral antimicrobials for 3 more weeks. Asplenia and parasitemia > 10% are associated with severe babesiosis. Asplenia, in particular, is associated with severe infection, hospitalization, and prolonged duration of therapy. Exchange transfusion in severe babesiosis can be lifesaving.

RESUMEN

BACKGROUND: Pneumococcal pneumonia (PP) is a serious infection caused by Streptococcus pneumoniae (pneumococcus), with a wide spectrum of clinical manifestations. The aim of this study was to analyze the comorbidity factors that influenced the mortality in patients with asplenia according to PP. METHODS: Discharge reports from the Spanish Minimum Basic Data Set (MBDS) was used to retrospectively analyze patients with asplenia and PP, from 1997 to 2021. Elixhauser Comorbidity Index (ECI) was calculated to predict in-hospital mortality (IHM). RESULTS: 97,922 patients with asplenia were included and 381 cases of PP were identified. The average age for men was 63.87 years and for women 65.99 years. In all years, ECI was larger for splenectomized than for non-splenectomized patients, with men having a higher mean ECI than women. An association was found between risk factors ECI, splenectomy, age group, sex, pneumococcal pneumonia, and increased mortality (OR = 0.98; 95% CI: 0.97-0.99; p < 0.001). The IHM increased steadily with the number of comorbidities and index scores in 1997-2021. CONCLUSIONS: Asplenia remain a relevant cause of hospitalization in Spain. Comorbidities reflected a great impact in patients with asplenia and PP, which would mean higher risk of mortality.

Asunto(s)

RESUMEN

In this case report, we present a patient with a history of splenectomy and two recent hospital admissions for severe gastroenteritis with sepsis. The first hospital admission was for Yersinia enterocolitica and the second admission was for Campylobacter fetus gastroenteritis with bacteremia. During both admissions, the patient was treated with a prolonged course of antibiotics and later discharged with full recovery. In our review, we address the risk of enterocolitis in splenectomized patients.

RESUMEN

Objective: Heterotaxy syndrome is a complex multisystem abnormality historically associated with high morbidity and mortality. We sought to evaluate the early and long-term outcomes after cardiac surgery in heterotaxy syndrome. Methods: This is a single-center retrospective review of patients with heterotaxy syndrome undergoing single-ventricle palliation or primary or staged biventricular repair from 1998 to 2018. Patients were stratified by single ventricle versus biventricular physiology, and the severity of atrioventricular valve regurgitation. Demographics, anatomic characteristics, and early and late outcomes, including the length of stay, mortality, and surgical or catheter reinterventions, were analyzed. Results: Among 250 patients, 150 (60%) underwent biventricular repair. In-hospital mortality was 7.6% (n = 19). Median follow-up was 5.2 (range, 0-16) years. Among survivors to discharge, mortality was 19% (n = 44) and reintervention was 52% (n = 120). Patients with moderate/severe atrioventricular valve regurgitation were older (32 vs 16 months, P = .02), were more likely to experience adverse events during their index surgical admission (72% vs 46%, P < .001), and had longer in-hospital length of stay (20 vs 12 days, P = .009). Among patients with moderate to severe atrioventricular valve regurgitation, single-ventricle palliation is associated with a greater risk of unplanned reintervention compared with patients undergoing biventricular repair (hazard ratio, 2.13; CI, 1.10-4.12; P = .025). Conclusions: There was no significant difference in early or late outcomes in single-ventricle versus biventricular repair strategies in heterotaxy. In the subgroup of patients with moderate/severe atrioventricular valve regurgitation, patients who underwent single-ventricle palliation were 2.5 times more likely to need a late reintervention compared with those undergoing biventricular repair.

RESUMEN

Heme oxygenase deficiency, a rare condition disrupting heme metabolism, has only nine reported cases. We present a 3-year-old boy with dysmorphic facies, asplenia, and normal bilirubin levels despite ongoing hemolysis. Blood transfusions sustained hemoglobin while IV steroids managed inflammation.

RESUMEN

Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen were published by the British Committee for Standards in Haematology in 1996 and updated in 2002 and 2011. With advances in vaccinations and changes in patterns of infection, the guidelines required updating. Key aspects included in this guideline are the identification of patients at risk of infection, patient education and information and immunisation schedules. This guideline does not address the non-infective complications of splenectomy or functional hyposplenism (FH). This replaces previous guidelines and significantly revises the recommendations related to immunisation. Patients at risk include those who have undergone surgical removal of the spleen, including partial splenectomy and splenic embolisation, and those with medical conditions that predispose to FH. Immunisations should include those against Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus) and influenza. Haemophilus influenzae type b (Hib) is part of the infant immunisation schedule and is no longer required for older hyposplenic patients. Treatment of suspected or proven infections should be based on local protocols and consider relevant anti-microbial resistance patterns. The education of patients and their medical practitioners is essential, particularly in relation to the risk of serious infection and its prevention. Further research is required to establish the effectiveness of vaccinations in hyposplenic patients; infective episodes should be regularly audited. There is no single group ideally placed to conduct audits into complications arising from hyposplenism, highlighting a need for a national registry, as has proved very successful in Australia or alternatively, the establishment of appropriate multidisciplinary networks.

Asunto(s)

RESUMEN

Heterotaxy syndrome (HS) occurs in developing embryos due to an inability to establish the normal anatomy, which manifests as abnormal symmetry and malposition of the thoracoabdominal viscera and vasculature, including cardiac and extracardiac anomalies. It is classified as right or left atrial isomerism. This classification depends on the atrial appendage morphology and the extracardiac defect associated with it. Right isomerism usually presents with right atrial appendages (RAA), asplenia, total anomalous pulmonary venous return, and severe pulmonary stenosis. In contrast, left isomerism usually presents with left atrial appendages, polysplenia, and an interrupted inferior vena cava (IVC). The interrupted IVC feature has never been reported with the right isomerism. Diagnosis of HS may take place prenatally or a few days postnatally due to the severe cardiac defect, whereas a left isomerism diagnosis may be delayed until adulthood. Despite the popularity of the HS classification, we reported a rare presentation of an interrupted IVC, dextrocardia, a right-sided aortic arch, and a total anomalous pulmonary venous return, which occurred along with the right isomerism major components (asplenia syndrome).

RESUMEN

BACKGROUND: APECED syndrome is a rare disease caused by biallelic mutations of the AIRE gene, usually presenting with the triad "hypoparathyroidism-adrenal failure-chronic mucocutaneous candidiasis (CMC)" and non-endocrine manifestations. The aim of this study was to determine the molecular profile of the AIRE gene, the prevalence of rare manifestations and to characterize immunological disturbances in a French cohort. PATIENTS AND METHODS: A national, multicenter prospective observational study to collect genetic, clinical, biological and immunological data (NCT03751683). RESULTS: 25 patients (23 families) were enrolled. Eleven distinct AIRE variants were identified, two of which were not previously reported: an intronic variant, c.653-70G > A, and a c.1066del (p.Arg356GlyfsX22) variant (exon 9). The most common was the Finnish variant c.769C > T (16 alleles), followed by the variant c.967_979del13 (15 alleles), which seemed associated with a less severe phenotype. 17/25 patients were homozygote. The median number of clinical manifestations was seven; 19/25 patients presented with the hypoparathyroidism-adrenal failure-CMC triad, 8/13 showed pulmonary involvement, 20/25 had ectodermal dystrophy, 8/25 had malabsorption, and 6/23 had asplenia. Fifteen out of 19 patients had NK cell lymphopenia with an increase in CD4+ and CD8+ T lymphocytes and an age-dependent alteration of B lymphocyte homeostasis compared with matched controls (p < 0.001), related to the severity of the disease. All tested sera (n = 18) were positive for anti-interferon-α, 15/18 for anti-interleukin-22 antibodies, and 13/18 for anti-interleukin-17F antibodies, without clear phenotypic correlation other than with CMC. CONCLUSION: This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.

RESUMEN

BACKGROUND: COVID-19 has had enormous impact on health and social systems, with stringent public health measures enacted across Australia. The virus itself disproportionately affects immunocompromised individuals including people without functioning spleens. We thus sought to characterise the psychological and physical impact of COVID-19 and such measures upon this oft-neglected patient group. METHODS: Adults ≥ 18 years old identified from the Spleen Australia (SA) database were invited to participate in an online survey in November to December 2021 to assess the impact of the COVID-19 pandemic. Stata (v17, StataCorps, Texas, USA) was used to conduct descriptive and frequency analyses. RESULTS: 2864 respondents were surveyed. The majority were female (1473/2838, 51.9%), Australian-born (2257/2835, 79.6%), and living in Victoria (1755/2822, 62.2%). The largest age group was 61-70 years-old (841/2858, 29.4%). Trauma was the commonest reason for asplenia (826/2724, 30.3%). Respondents reported the pandemic reduced their ability to visit a GP (753/2864, 26.3%), access food (153/2864, 5.3%), medications (179/2864, 6.3%) or spleen-specific vaccines (120/2864, 4.2%), maintain relationships (503/2864, 17.6%), or care for children (127/2864, 4.4%). 84.8% of participants reported at least one impact of COVID, including negative physical health (1463/2864, 51.1%), mental health (733/2864, 25.6%) and financial repercussions (509/2864, 17.8%). 96.9% (2743/2831) had received at least one dose of COVID-19 vaccines. CONCLUSIONS: Overall, we found detailed evidence of the negative psychological and physical impacts of the pandemic upon this cohort. We recommend that providers consider people without functioning spleens as requiring extra social and psychological support in circumstances such as the COVID-19 pandemic.

Asunto(s)

RESUMEN

Anatomical or functional asplenia constitutes a risk factor for Streptococcus pneumoniae (SP) infection, being more frequent in children and the elderly and in people with multiple comorbidities. We aimed to describe the impact of invasive pneumococcal disease (IPD) on the clinical features and outcomes of patients hospitalized for asplenia in Spain. Discharge reports from the Spanish Minimum Basic Data Set were used to retrospectively analyze hospital discharge data with a diagnosis of asplenia from 1997 to 2021. A total of 132,257 patients with asplenia (splenectomized/non-splenectomized) were identified from the Spanish database. Among the cases, 177 (37.5%) patients with splenectomy and 295 (62.5%) patients without splenectomy developed IPD. The clinical presentations (non-infection vs. infection) did not significantly differ between the two reference groups, except for patients with COPD, rheumatoid disease, AIDS, other neurological disorders, metastatic cancer, and drug abuse. The risk factors for IPD were also more frequently reported in patients without splenectomy (p < 0.001) and with comorbidities (p = 0.005). The study of patients with asplenia provides relevant information about the state of SP infection. This epidemiological tracking can serve to better understand the comorbidities that affect them, the risk factors for the disease, the prediction of antibiotic use, and vaccination in public health, among other factors.

RESUMEN

Invasive pneumococcal disease is a serious infection with an elevated case-fatality rate that can be even higher among patients with asplenia. Its impact has been blunted by the widespread use of vaccines; even recently, in 2021, two new pneumococcal conjugate vaccines emerged. The authors present a case of a 58-year-old male, splenectomised with the immunisation schedule complete, who died of invasive pneumococcal disease with a fulminant course. It is highlighted that fever in a patient with impaired splenic function is an emergency, and despite the success of immunisation in reducing pneumococcal carriage and invasive disease, serotypes continue to change. Also, the local epidemiology may help guide situations where the immunisation recommendations are dubious regarding the implementation of the new vaccines.

RESUMEN

The spleen is postulated to be a hematopoietic tissue in adult fish; however, clear evidence is still lacking to define its role in hematopoietic activity. In our previous study, a congenitally asplenic zebrafish was generated though gene editing, which provided a new perspective for studying the role of fish spleen in hematopoiesis. In this study, HSC-regulated and erythrocyte marker genes, such as gata1a, gata2, klf1, hbaa1, hbaa2, hbba1 and hbba2 were significantly reduced in congenitally asplenic zebrafish when compared with wild-type (WT). Subsequently, we conducted the transcriptome profiles of whole kidneys from WT and congenitally asplenic zebrafish to explore the possible molecular mechanisms underlying the impaired erythropoiesis caused by congenital asplenia. Our results demonstrated that congenital asplenia might impair heme-iron recycling during erythropoiesis, as evidenced by significant down-regulation of genes associated with iron acquisition (tfr1a, tfa, steap3 and slc25a37) and heme biosynthesis and transport (alas2, fech, uros, urod, copx, ppox and abcb10) in congenitally asplenic zebrafish. In addition, the down-regulation of hemopoiesis-related GO terms, including heme binding, tetrapyrrole binding, iron ion binding, heme metabolic process, heme biosynthetic process, erythrocyte differentiation, iron ion homeostasis and hemoglobin metabolic process confirmed the impaired erythropoiesis induced by congenital asplenia. Our study provides an in-depth understanding of spleen function in regulating heme-iron homeostasis during hematopoiesis, thereby providing valuable insights into pathological responses in splenectomized or congenitally asplenic patients.

Asunto(s)

RESUMEN

PURPOSE: To determine whether a novel intervention improves the adherence to guideline-based preventive measures in asplenic patients at risk of post-splenectomy sepsis (PSS). METHODS: We used a prospective controlled, two-armed historical control group design to compare a novel, health action process approach (HAPA)-based telephonic intervention involving both patients and their general practitioners to usual care. Eligible patients were identified in cooperation with the insurance provider AOK Baden-Wuerttemberg, Germany. Patients with anatomic asplenia (n = 106) were prospectively enrolled and compared to a historical control group (n = 113). Comparisons were done using a propensity-score-based overlap-weighting model. Adherence to preventive measures was quantified by the study-specific 'Preventing PSS score' (PrePSS score) which includes pneumococcal and meningococcal vaccination status, the availability of a stand-by antibiotic and a medical alert card. RESULTS: At six months after the intervention, we estimated an effect of 3.96 (95% CI 3.68-4.24) points on the PrePSS score scale (range 0-10) with mean PrePSS scores of 3.73 and 7.70 in control and intervention group, respectively. Substantial improvement was seen in all subcategories of the PrePSS score with the highest absolute gains in the availability of stand-by antibiotics. We graded the degree of participation by the general practitioner (no contact, short contact, full intervention) and noted that the observed effect was only marginally influenced by the degree of physician participation. CONCLUSIONS: Patients who had received the intervention exhibited a significantly higher adherence to guideline-based preventive measures compared to the control group. These data suggest that widespread adoption of this pragmatic intervention may improve management of asplenic patients. Health insurance provider-initiated identification of at-risk patients combined with a patient-focused intervention may serve as a blueprint for a wide range of other preventive efforts leading to patient empowerment and ultimately to better adherence to standards of care.

Asunto(s)

RESUMEN

A 44-year-old male with history of asplenia, provoked PE, and hyperlipidemia presented with ascending paralysis, bowel and bladder incontinence and altered mental status, and progressively developed acute hypoxic respiratory failure. Initial workup including CT head, magnetic resonance imaging (MRI) brain, and lumbar puncture which was concerning for herpes simplex virus (HSV) meningoencephalitis; out of caution he was started on multiple antibiotics consequently resulting in the development of Clostridium difficile (C.diff). He also received two doses of IVIG. He was transferred to our institution and after interval re-imaging via MRI brain and spinal surveys and repeat lumbar punctures, he was found to have a high CSF HSV titer and positive GAD 65 antibody, the latter likely a false positive due to IVIG administration. IVIG was not continued from the outside hospital due to the development of deep vein thrombosis (DVT), and the risks of plasmapheresis outweighed the benefits. The patient gradually improved after a prolonged course of acyclovir and was downgraded out of the Neuroscience ICU (NSICU), however decompensated due to rectal bleeding, and subsequently went into cardiac arrest. Though this patient underwent a splenectomy, his relative immunocompetency towards non-encapsulated organisms should have been preserved. It has not been clearly described in the literature how and why HSV encephalomyelitis takes a fulminant course in immunocompetent patients, including our asplenic patient. Furthermore, definitive treatment and management of this condition remains unclear. Severity of HSV encephalomyelitis has not been clearly described in the literature, particularly in immunocompetent patients (such as this asplenic patient).

RESUMEN

Babesiosis is a parasitic infection of the Babesia protozoa, which has been increasing in incidence in endemic areas of the United States. Symptoms of babesiosis can occur on a wide spectrum, from a mild flu-like illness to a fulminant disease course. Known complications of severe cases include intravascular hemolytic anemia and may involve the coagulation system, heart, spleen, kidneys, and in some cases, the lungs. This case report describes an 81-year-old, asplenic female in northern Wisconsin who presented to a hospital with shortness of breath and a non-productive cough. Definitive diagnosis of babesiosis, which was made through both a nucleic acid panel and blood smear, was initially delayed given the rare pulmonary manifestation of babesiosis. When the lungs are involved in the disease course, non-cardiogenic pulmonary edema leading to acute respiratory distress syndrome is among the most commonly seen complications. The pathophysiology of pulmonary involvement has not been made entirely clear but is most likely multifactorial, including the sequelae of changes to both the patient's red blood cells and pulmonary vasculature. This report highlights that atypical tick-borne illnesses like babesiosis should be considered as a cause of acute respiratory failure, particularly in the setting of sepsis and fever. The threshold for parasitic testing should be low in patients in endemic regions with risk factors, including increased age and history of asplenia, as babesiosis frequently has no localizing symptoms to suggest a protozoan infection. As babesiosis incidence continues to rise, prompt diagnosis and proper treatment can prevent severe complications and death in patients.

RESUMEN

The spleen is responsible for blood filtration and mounting an immune response against pathogens. In some people the spleen must be surgically removed because of traumatic events or oncological and hematological conditions. These patients are at higher risk of developing diseases caused by encapsulated bacteria throughout their lives. Thus, immunisations are advised for splenectomised persons to prevent infection caused by Streptococcus pneumoniae, Neisseria meningitidis and Haemophilus influenzae type b (Hib). This study assessed vaccination coverage (VC) among Norwegian patients with surgical asplenia. Using the Nomesco Classification of Surgical Procedures codes, patient information (age, sex, date of initial diagnosis and date of surgery) was acquired from the Norwegian Patient Registry. The National Immunization Register provided information on vaccination status and data of any subsequent invasive bacterial infections were obtained from the Norwegian Surveillance System for Communicable Diseases. From the total population of Norway, 3155 patients who had undergone complete splenectomy were identified. Of these, 914 (29.0%) had received at least one dose of pneumococcal conjugate vaccine (PCV), 1324 (42.0%) at least one dose of pneumococcal polysaccharide vaccine and 589 (18.7%) had received both. Only 4.2% of the patients had received two doses of a meningococcal ACWY conjugate vaccine, while 8.0% of 1467 patients splenectomised after 2014 had received at least two doses of a serogroup B meningococcal vaccine. The VC for Hib was 18.7%. Nearly all splenectomised children under the age of 10 were vaccinated with Hib and PCV as these vaccines are included in the childhood immunisation program. For all vaccines, VC decreased with age. Twenty-nine invasive bacterial infections were registered post-splenectomy in 25 patients. Vaccination according to national recommendations could have prevented at least 8 (28%) of these infections. Our study showed that efforts are required to increase VC of splenectomised individuals in Norway.

Asunto(s)

RESUMEN

We hereby report a case of a 40-year-old male with a recent dog bite, a past history of immune thrombocytopenic purpura (ITP) and therapeutic splenectomy. He presented to the hospital with abdominal pain and shortness of breath, which progressed to sepsis and disseminated intravascular coagulation (DIC). Based on clinical presentation, Capnocytophaga-induced sepsis was suspected, and the diagnosis was confirmed through blood culture. Upon confirmation of the diagnosis, the patient was started on IV ampicillin/sulbactam which improved his condition and led to complete recovery without any long-term effects. Capnocytophaga is a genus of Gram-negative bacteria that are commensal to the oral cavity of common household pets such as dogs and cats. This case highlights the importance of considering Capnocytophaga as a potential pathogen in asplenic patients with recent pet-bites and emphasizes how early recognition and intervention can significantly improve outcomes in these critically-ill patients. It also warrants the need for healthcare providers to consider Capnocytophaga infections from minor pet-bites as a differential diagnosis in immunocompromised as well as immunocompetent individuals.

RESUMEN

Pyomyositis is an infection of skeletal muscles, commonly affecting deep longitudinal muscles of the lower extremities. Primary pyomyositis is uncommon in the United States. Staphylococcus aureus is the most common cause of pyomyositis, but Streptococcus pneumoniae is the most common cause of life-threatening bacterial infection in asplenic patients. Most cases of S. pneumoniae pyomyositis occur in immunocompromised patients. We describe a 31-year-old man with S. pneumoniae pyomyositis whose diagnosis and hospital course were complicated by an immunocompromised state from asplenia and an underlying connective tissue disease, Stickler syndrome. Underlying connective tissue diseases such as systemic lupus erythematosus and polymyositis can predispose patients to infection, but susceptibility with Stickler syndrome is less known. While pyomyositis is only seen in up to 0.2% of US hospital admissions, it remains a pertinent differential for patients with asplenia and connective tissue disease.