Hyperimmune malarial splenomegaly in a malaria-endemic area of southwest Burkina Faso: case of Bobo-Dioulasso.

INTRODUCTION: Hyperreactive malarial splenomegaly (HMS) is one of the main causes of massive splenomegaly in malaria-endemic zones. Diagnosis is often challenging in Bobo-Dioulasso. This study aimed to describe the clinical and socio-demographic profile, and the reasons for delay in the diagnosis of HMS cases recorded in the Medicine and Medical Specialties wards of Souro Sanou Teaching hospital. METHODS: A retrospective descriptive study was conducted from August 2022 by focusing on HMS cases diagnosed in the Infectious Diseases and Clinical Hematology wards of Souro Sanou Teaching Hospital. RESULTS: Overall, 65 patients met our inclusion criteria over the 12-year period. Burkinabe nationals and have been residing in Burkina Faso since their birth. 79% (79%) of the patients were seen for medical consultation with the reason for consultation being a voluminous mass in the left hypochondrium. Indigence, self-medication, and lack of information were essential elements in late diagnosis of HMS in Bobo-Dioulasso. All patients were treated with a single tablet of Artemether (80 mg) and Lumefantrine (480 mg) in the morning and evening for 3 days, followed by sulfadoxine-pyrimethamine per week. Nine months later, patients were clinically asymptomatic. CONCLUSION: This study provides a database on hyperreactive malarial splenomegaly (HMS) in the south-west region of Burkina Faso. Rapid and accurate diagnosis of the disease and appropriate use of effective antimalarial drugs would significantly reduce the burden of HMS in Sub-Saharan African countries.

Development and validation of a nomogram based on Lasso-Logistic regression for predicting splenomegaly secondary to acute pancreatitis.

PURPOSE: Investigate the clinical characteristics of splenomegaly secondary to acute pancreatitis (SSAP) and construct a nomogram prediction model based on Lasso-Logistic regression. METHODS: A retrospective case-control study was conducted to analyze the laboratory parameters and computed tomography (CT) imaging of acute pancreatitis (AP) patients recruited at Xuanwu Hospital from December 2014 to December 2021. Lasso regression was used to identify risk factors, and a novel nomogram was developed. The performance of the nomogram in discrimination, calibration, and clinical usefulness was evaluated through internal validation. RESULTS: The prevalence of SSAP was 9.2% (88/950), with the first detection occurring 65(30, 125) days after AP onset. Compared with the control group, the SSAP group exhibited a higher frequency of persistent respiratory failure, persistent renal failure, infected pancreatic necrosis, and severe AP, along with an increased need for surgery and longer hospital stay (P < 0.05 for all). There were 185 and 79 patients in the training and internal validation cohorts, respectively. Variables screened by Lasso regression, including platelet count, white blood cell (WBC) count, local complications, and modified CT severity index (mCTSI), were incorporated into the Logistic model. Multivariate analysis showed that WBC count ≦9.71 × 109/L, platelet count ≦140 × 109/L, mCTSI ≧8, and the presence of local complications were independently associated with the occurrence of SSAP. The area under the receiver operating characteristic curve was 0.790. The Hosmer-Lemeshow test showed that the model had good fitness (P = 0.954). Additionally, the nomogram performed well in the internal validation cohorts. CONCLUSIONS: SSAP is relatively common, and patients with this condition often have a worse clinical prognosis. Patients with low WBC and platelet counts, high mCTSI, and local complications in the early stages of the illness are at a higher risk for SSAP. A simple nomogram tool can be helpful for early prediction of SSAP.

Evolution of splenomegaly in liver cirrhosis: Simulation using an electronic circuit.

PURPOSE: The evolution of splenomegaly in patients with liver cirrhosis remains largely unknown. In this study, we followed the changes in splenic volume and established the natural course of splenomegaly. We developed an electronic circuit that simulated splenoportal circulation and identified the underlying hemodynamic mechanisms. MATERIALS AND METHODS: This retrospective observational study included 93 patients with cirrhosis. Splenic volumes were measured in imaging studies at 6-month intervals and normalized by the ratio of each patient's maximum volume during follow-up (%Vmax). An electronic simulation model was constructed using software and realized on a breadboard. RESULTS: Overall, the %Vmax increased from 0.77 â€‹± â€‹0.21 to a maximum of 1.00 â€‹± â€‹0.00 (p â€‹< â€‹0.001) during a median follow-up of 23 (3-162) months and then decreased to 0.84 â€‹± â€‹0.18 (p â€‹< â€‹0.001) during the next 9 (3-132) months. No interventional radiology procedure was performed to improve hepatic fibrosis and portal hypertension. The evolution of %Vmax showed single-peaked symmetry. An electronic simulation model showed that the upslope of the evolution curve was dependent on the increased intrahepatic vascular resistance and portal hypertension, whereas the downslope was dependent on the decreased portosystemic shunt (PSS) resistance. CONCLUSIONS: Splenomegaly in cirrhotic patients aggravated over a period of 23 months and then regressed spontaneously to its initial volume. Electronic simulation of splenoportal circulation showed that splenic enlargement was due to the advancement of liver cirrhosis and portal hypertension, whereas its regression was due to the development of a PSS.

Sarcoidosis presenting as isolated massive splenomegaly: A case report.

Key Clinical Message: Sarcoidosis is a systemic granulomatous disease with an unknown cause, marked by the presence of noncaseating granulomas in the affected organs. While the pulmonary interstitium is most frequently involved, the disease can affect almost any other organ system. Extrapulmonary involvement can occur with or without lung involvement, but isolated extrapulmonary involvement is a rare event. Isolated splenomegaly is very rare and presents an uncommon manifestation of sarcoidosis, its diagnoses is a challenge due to a broad differential diagnosis. Here, we present an intriguing case of a 28-year-old male with isolated splenic sarcoidosis. Abstract: Sarcoidosis is a systemic disease of unknown cause, marked by the presence of noncaseating granulomas in affected organs. It most frequently impacts the pulmonary interstitium, though it can also affect nearly any other organ system. This involvement can occur with or without lung involvement, but isolated extrapulmonary cases are observed in only about 10% of instances. Furthermore, isolated splenomegaly is an exceptionally rare event and an uncommon presentation of sarcoidosis, posing a significant clinical challenge due to the wide differential diagnosis. Potential differential diagnoses include hematologic cancers, primary or metastatic splenic tumors, infiltrative diseases, inflammatory conditions, and infections. We present a noteworthy case of a 28-year-old with isolated splenic sarcoidosis.

Clinical Features of Cytokine Storm Syndrome.

Cytokine storm syndrome (CSS) is a severe life-threatening condition characterized by a clinical phenotype of overwhelming systemic inflammation, hyperferritinemia, hemodynamic instability, and multiple organ failure (MOF), and, if untreated, it can potentially lead to death. The hallmark of CSS is an uncontrolled and dysfunctional immune response involving the continual activation and expansion of lymphocytes and macrophages, which secrete large amounts of cytokines, causing a cytokine storm. Many clinical features of CSS can be explained by the effects of pro-inflammatory cytokines, such as interferon (IFN)-γ, tumor necrosis factor (TNF), interleukin (IL)-1, IL-6, and IL-18 [1-7]. These cytokines are elevated in most patients with CSS as well as in animal models of CSS [8, 9]. A constellation of symptoms, signs, and laboratory abnormalities occurs that depends on the severity of the syndrome, the underlying predisposing conditions, and the triggering agent.

Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.

Introduction: Prolidase deficiency is a rare multisystemic disease associated with collagen metabolism. Clinical manifestations and age of onset are highly variable. Prolidase deficiency is caused by homozygous variants in the PEPD gene. In this report, three siblings with c.1103T>G (L368R) variant in the PEPD gene are presented. They had features not described in the literature and marked intrafamilial clinical heterogeneity. This is the first family of Syrian ancestral origin with prolidase deficiency. Case Presentation: We performed whole-exome sequencing for the index case, and detected a homozygous c.1103T>G variant, in the PEPD gene. All family members were then screened for the same variant by Sanger sequencing analysis. Two siblings were found to be homozygous, and one of them had not yet developed clinical symptoms. Conclusion: Our data expand the clinical spectrum of prolidase deficiency. It also improves our knowledge of phenotype and genotype relationships of prolidase deficiency patients.

Myelofibrosis and anemia: A German claims data analysis to describe epidemiology and current treatment.

OBJECTIVES: There is limited data on the incidence, prevalence, and treatments for myelofibrosis (MF) in Germany. This retrospective study examined claims data from 3.3 million insured individuals, spanning from 2010 to 2021. METHODS: Four sensitivity scenarios were explored to identify cases of MF. Point prevalence and cumulative incidence of MF were determined as of December 31, 2021, and within 2021, respectively. A cross-sectional analysis used the main scenario definition of MF to identify cases and evaluate the period prevalence of patients receiving treatment for symptoms and/or splenomegaly, including first-line (1L) Janus kinase inhibitor (JAKi), second-line, or further (2L+) MF-related treatment therapies during 2021. The prevalence of anemia treatment was also reported. RESULTS: The estimated standardized point prevalence of MF on December 31, 2021, was 9.9-12.4 cases per 100 000 persons, and cumulative incidence in 2021 was 1.2-1.8 cases per 100 000 persons. Standardized period prevalence in 2021 for MF patients receiving 1L JAKi and/or 2L+ MF-related treatment was 4.0 cases per 100 000. Among these patients, 47.1%-53.7% required treatment for anemia, resulting in a period prevalence of 1.9-2.2 cases per 100 000 individuals. CONCLUSION: The data reveal gaps in MF treatments and the need to improve patient quality of life.

Myelofibrosis and allogeneic transplantation: critical points and challenges.

New available drugs allow better control of systemic symptoms associated with myelofibrosis (MF) and splenomegaly but they do not modify the natural history of progressive and poor prognosis disease. Thus, hematopoietic stem cell transplantation (HSCT) is still considered the only available curative treatment for patients with MF. Despite the increasing number of procedures worldwide in recent years, HSCT for MF patients remains challenging. An increasingly complex network of the patient, disease, and transplant-related factors should be considered to understand the need for and the benefits of the procedure. Unfortunately, prospective trials are often lacking in this setting, making an evidence-based decision process particularly arduous. In the present review, we will analyze the main controversial points of allogeneic transplantation in MF, that is, the development of more sophisticated models for the identification of eligible patients; the need for tools offering a more precise definition of expected outcomes combining comorbidity assessment and factors related to the procedure; the decision-making process about the best transplantation time; the evaluation of the most appropriate platform for curative treatment; the impact of splenomegaly; and splenectomy on outcomes.

Navigating Portal Hypertension and Splenomegaly: A Clinical Encounter With an Unusual Variant of Cruveilhier-Baumgarten Syndrome.

Cruveilhier-Baumgarten syndrome presents a rare manifestation of portal hypertension characterized by a portosystemic shunt through a dilated paraumbilical vein, typically accompanied by classical signs such as caput medusae and a venous hum. We report a compelling case of a 41-year-old male presenting with portal hypertension, exhibiting clinical and radiological features of Cruveilhier-Baumgarten syndrome but notably lacking the characteristic venous hum. Clinical examination revealed moderate splenomegaly with prominent dilated veins and venous thrill but no caput medusae. Laboratory investigations indicated thrombocytopenia and esophageal varices on upper GI endoscopy. Imaging studies confirmed portal hypertension with findings consistent with Cruveilhier-Baumgarten syndrome, including a dilated paraumbilical vein and splenic artery aneurysms, along with the unexpected absence of a venous hum. Despite the classical radiological features, our patient did not present with hematemesis, possibly attributed to the presence of paraumbilical veins. This case highlights the diagnostic challenges and atypical presentations of Cruveilhier-Baumgarten syndrome, emphasizing the importance of comprehensive clinical evaluation and imaging modalities in its diagnosis and management. Management strategies primarily focus on addressing portal hypertension and underlying liver disease. This case underscores the need for further research to elucidate the varied clinical presentations and pathophysiology of Cruveilhier-Baumgarten syndrome variants, enhancing our understanding and management of this rare entity.

Splenic complications in pediatric sickle cell disease: A retrospective cohort review.

OBJECTIVE: To delineate the natural history of splenic complications other than loss of splenic function in children with sickle cell disease (SCD), we performed a retrospective chart review of patients with SCD treated at the Texas Children's Hospital. METHODS: We determined the dates of diagnoses of splenic complications, the number of acute splenic sequestration crises (ASSC), and hydroxyurea treatment in pediatric patients with SCD. We also examined the association of hydroxyurea therapy with the onset and severity of ASSC. RESULTS: The cumulative prevalence of splenic complications was 24.7% for splenomegaly, 24.2% for ASSC, 9.6% for hypersplenism, and 5.6% for splenectomy. The cumulative prevalence of splenic complications was highest in patients with hemoglobin Sß0 (69.2%), intermediate in hemoglobin SS (33.3%), low in hemoglobin SC (9.0%), and non-existent in hemoglobin Sß+. The overall event rate of ASSC was 8.3 per 100 patient-years. The event-rate was 28.4 for hemoglobin Sß0, 10.9 for hemoglobin SS, and 3.5 for hemoglobin SC. Patients with hemoglobin SS and hemoglobin Sß0 on hydroxyurea therapy had a significantly higher occurrence of ASSC than those who were not, with event rates of 14.2 and 3.1, respectively. The event rate was also higher for children who started hydroxyurea before age 2 years than for those who started after this age (19.8 and 9.2, respectively). CONCLUSIONS: The prevalence and severity of splenic problems vary widely between different sickle cell genotypes, with hemoglobin Sß0 having the most severe complications. Hydroxyurea therapy is associated with increased incidence of ASSC, particularly when initiated before 2 years of age.

Splenomegaly and Response to Splenectomy in Immune Thrombocytopenia.

Background: Immune thrombocytopenia (ITP) is an acquired autoimmune disorder affecting patients of all ages and backgrounds. While current standards favor medical therapy in the frontline setting, splenectomy remains an integral part of treatment in refractory cases. Ideal parameters for patient selection for surgery remain elusive. Methods: Data for 40 adult patients undergoing splenectomy for ITP at a large urban center between 1 January 2010 and 1 July 2021 were collected and analyzed. Results: Most patients underwent uneventful laparoscopic splenectomy (95%). Complete or partial response at the time of last follow-up occurred in most patients (92.5%), with 60.0% requiring no additional medical therapy following surgery. Thrombosis was the predominant adverse event and the leading cause of death for two patients. Age and presence of splenomegaly appear to be associated with response to splenectomy. Conclusions: Splenectomy remains an effective therapy for selected patients with ITP. Predictors of positive response to splenectomy, such as younger age and the presence of splenomegaly, may help inform clinicians during patient selection for therapy. With strict attention paid to postoperative thromboprophylaxis, the diminishing use of splenectomy may not be warranted.

Point Shear Wave Elastography for Splenic Assessment: A Comparative Study of Splenomegaly and Normal Spleens.

Background The spleen, a key immunological organ, plays a crucial role in filtering aged or damaged red blood cells. Splenomegaly, an enlargement of the spleen, can arise from a variety of physiological and pathological conditions, including hematological disorders, hepatic diseases, and infections. Accurate diagnosis and evaluation of splenomegaly are essential for effective treatment. Objectives The objective of this study was to evaluate splenic stiffness in patients with splenomegaly using point shear wave elastography (pSWE) and compare the findings with those of individuals with normal spleen. Materials and methods This hospital-based observational study was conducted at Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, India, from October 2022 to December 2023. The study included 56 participants, divided into two groups: 28 patients with splenomegaly and 28 healthy controls. Spleen stiffness was measured using a Samsung HS70A ultrasound machine (Samsung Electronics Pvt. Ltd., Seoul, South Korea), and pSWE was performed with a curvilinear probe. Data were analyzed using IBM SPSS Statistics for Windows, Version 26.0 (Released 2019; IBM Corp., Armonk, New York, United States), and the significance of differences was assessed using an independent t-test with a p-value of <0.05, considered statistically significant. Results The mean spleen stiffness, measured in kilopascals (kPa), was significantly higher in individuals with splenomegaly (32.05 ± 12.54 kPa) compared to controls (22.9 ± 9.49 kPa) (p = 0.003). A positive correlation (rho = 0.482, p < 0.001) was observed between spleen diameter and spleen stiffness. Conclusion This study demonstrates that pSWE is an effective, non-invasive tool for assessing spleen stiffness. The higher spleen stiffness in splenomegaly patients underscores pSWE's diagnostic utility, with a positive correlation between spleen diameter and stiffness. Further multi-center studies are recommended to validate these findings, highlighting pSWE's promise in evaluating and monitoring splenic disorders.

A Real Gut Punch: An Unexpected Diagnosis of Spontaneous Splenic Rupture.

Atraumatic or spontaneous splenic rupture is a rare but life-threatening complication of infectious mononucleosis. We present a case of a 26-year-old man presenting with a 1-week history of sharp epigastric and right upper quadrant pain, associated with malaise and subjective fever. Although initial findings were concerning for acute cholangitis, abdominal computed tomography angiography scan revealed splenic rupture. Further exploration confirmed acute Epstein-Barr virus infection. Infectious mononucleosis must be considered in young patients with lymphocytosis, splenomegaly, and prolonged malaise. Awareness of this presentation will allow for timely diagnosis and treatment, thereby preventing potentially fatal complications of infectious mononucleosis such as splenic rupture.

Thrombotic Thrombocytopenic Purpura in the Setting of Cirrhosis and Baseline Thrombocytopenia.

The management of immune thrombotic thrombocytopenic purpura (iTTP) has evolved significantly over the past several years. However, despite recent advances, there are limited tools available for patients with comorbidities that preclude either the utilization of available treatment modalities or evidence-based laboratory target levels. Literature to guide the management of such patients is sparse at best, and many complications associated with pre-existing comorbidities in the context of iTTP have not been reported. Here we describe the case of a patient with severe thrombocytopenia at baseline due to liver cirrhosis who developed iTTP. The challenges of the case in terms of pursuing disease-directed treatment, defining laboratory parameters to guide treatment, and mitigating the risks of bleeding and disease exacerbation are discussed. We offer our perspective in treating iTTP in the setting of severe baseline thrombocytopenia and high bleeding risk.

Splenic Sequestration Induced by Parvovirus B19: A Case Report.

Splenic sequestration crisis is a life-threatening complication of sickle cell disease (SCD), characterized by a sudden and huge accumulation of blood in the spleen, leading to rapid enlargement and may lead to organ failure. This case report discusses an unusual case of a splenic sequestration crisis in an adult with SCD. The patient's age, Parvovirus B19 infection, and concurrent retrocardiac pneumonia are all things that differentiate this case from our usual presentation. We will be discussing the clinical presentation, diagnostic methods, and management.

The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.

The liver, given its role as the central metabolic organ, is involved in many inherited metabolic disorders, including lysosomal storage diseases (LSDs). The aim of this manuscript was to provide a comprehensive overview on liver involvement in LSDs, focusing on clinical manifestation and its pathomechanisms. Gaucher disease, acid sphingomyelinase deficiency, and lysosomal acid lipase deficiency were thoroughly reviewed, with hepatic manifestation being a dominant clinical phenotype. The natural history of liver disease in the above-mentioned lysosomal disorders was delineated. The importance of Niemann-Pick type C disease as a cause of cholestatic jaundice, preceding neurological manifestation, was also highlighted. Diagnostic methods and current therapeutic management of LSDs were also discussed in the context of liver involvement.

The coincidence of beta-thalassemia and hereditary spherocytosis: A case report and literature review.

Key Clinical Message: When a person has both HS and beta-thalassemia, their clinical symptoms tend to be less severe. This is because these two conditions have contrasting features. If the clinical symptoms and laboratory results cannot be solely attributed to hemolytic anemia, it is important to consider the possibility of another form of hemolytic anemia coexisting. Abstract: We present a 26-year-old woman who has been experiencing abdominal pain, jaundice, and anemia for the past 15 years. Initially, she was diagnosed with gallstones and splenomegaly, but after a thorough hematology examination conducted by expert colleagues, it was discovered that she had both beta-thalassemia and hereditary spherocytosis. The osmotic fragility test confirmed this diagnosis. The patient was advised to undergo both splenectomy and cholecystectomy procedures. It is worth noting that the co-occurrence of these two conditions is rare.

Eµ-TCL1 adoptive transfer mouse model of chronic lymphocytic leukemia.

Despite being the most common adult leukemia in the western world, Chronic Lymphocytic Leukemia (CLL) remains a life-threatening and incurable disease. Efforts to develop new treatments are highly dependent on the availability of appropriate mouse models for pre-clinical testing. The Eµ-TCL1 mouse model is the most established pre-clinical approach to study CLL pathobiology and response to treatment, backed by numerous studies highlighting its resemblance to the most aggressive form of this malignancy. In contrast to the transgenic Eµ-TCL1 model, employing the adoptive transfer of Eµ-TCL1-derived splenocytes in immunocompetent C57BL/6 mice results in a comparably rapid (e.g., leukemic development within weeks compared to months in the transgenic model) and reliable model mimicking CLL. In this chapter, we would like to provide readers with a thoroughly optimized, detailed, and comprehensive protocol to use the adoptive transfer Eµ-TCL1 model in their research.

Impact of post-transplant cyclophosphamide and splenomegaly on primary graft failure and multi-lineage cytopenia after allogeneic hematopoietic cell transplantation.

Primary graft failure (PGF) and multi-lineage cytopenia (MLC) increase the risk of nonrelapse mortality in allogeneic hematopoietic cell transplants (HCT). We evaluated the impact of post-transplant cyclophosphamide (PTCy) and splenomegaly on PGF and MLC for hematological malignancies. This study included patients with PTCy (N=84) and conventional graft-vs.-host disease prophylaxis (N=199). The occurrence of splenomegaly varied widely, ranging from 17.1 % (acute myeloid leukemia) to 66.7 % (myeloproliferative neoplasms). Ten patients (N=8 in the PTCy and N=2 in the non- PTCy) developed PGF, and 44 patients developed MLC (both N=22). PTCy and severe splenomegaly (≥20 cm) were risk factors for PGF (odds ratio (OR): 10.40, p<0.01 and 6.74, p=0.01 respectively). Moreover, severe splenomegaly was a risk factor for PGF in PTCy patients (OR: 10.20, p=0.01). PTCy (hazard ratio (HR) 2.09, p=0.02), moderate (≥15, <20 cm, HR 4.36, p<0.01), and severe splenomegaly (HR 3.04, p=0.01) were independent risk factors for MLC. However, in subgroup analysis in PTCy patients, only mild splenomegaly (≥12, <15 cm, HR 4.62, p=0.01) was a risk factor for MLC. We recommend all patients be screened for splenomegaly before HCT, and PTCy is cautioned in those with splenomegaly.