RESUMEN
Scrub typhus is still an underdiagnosed disease despite an increase in incidence as the clinical presentation is often different, leading to a low index of suspicion among doctors. Scrub typhus, an acute febrile disease, is a cause of prolonged fever and pyrexia of unknown origin. It can have varied clinical presentations ranging from mild asymptomatic disease to fatal multi-organ dysfunction. Splenomegaly in scrub typhus has been rarely reported. We report a 30-year-old man presenting with fever, hepatomegaly, massive splenomegaly, lymphadenopathy and lobar pneumonia. Tests for malarial parasite and enteric fever were negative. Bone marrow aspiration showed normal haematopoiesis. IgM scrub was positive. Upon serological confirmation, doxycycline therapy was started followed by a rapid and complete resolution of pneumonia (both clinically and radiologically), splenomegaly and lymphadenopathy. This highlights the importance of recognizing rare clinical manifestations of this common tropical disease. An early diagnosis is required as a delay may lead to complications and a poor outcome.
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Doxiciclina , Tifus por Ácaros , Esplenomegalia , Humanos , Masculino , Esplenomegalia/etiología , Adulto , Tifus por Ácaros/diagnóstico , Tifus por Ácaros/complicaciones , Tifus por Ácaros/tratamiento farmacológico , Doxiciclina/uso terapéutico , Doxiciclina/administración & dosificación , Neumonía/diagnóstico , Neumonía/tratamiento farmacológico , Antibacterianos/uso terapéuticoRESUMEN
BACKGROUND: Angiosarcomas are rare tumors that can be difficult to diagnose due to subtle changes in the vascular endothelium. When there is evidence to suggest malignancy, such as a pathologic fracture, further investigation is needed, and a high suspicion for angiosarcoma needs to be present so that appropriate immunohistochemical stains are utilized on biopsied tissue. In situations where such suspicion is high and prior biopsies have been negative, performance of splenectomy, can be both diagnostic and therapeutic when splenomegaly is present. CASE REPORT: This is a case of a 52-year-old woman with splenomegaly, initially attributed to infection, in the setting of upper respiratory symptoms and thrombocytopenia. Three months later, however, she presented with back pain. Imaging showed lytic bone lesions with pathologic vertebral fracture and numerous liver lesions that were too small to characterize further. Initial biopsies of the liver and bone did not reveal a pathologic process. Several months later, still without a unifying diagnosis, she presented to our institution. MRI of the brain was done for neurologic concerns and showed pathologic enhancement in the calvarium. A PET scan showed diffuse avidity of the skeleton and spleen. After discussing the case with a hematologist, splenectomy was performed for both diagnostic and therapeutic purposes. Angiosarcoma was identified in the spleen and in a PET-directed bone biopsy. With a definitive diagnosis, she returned home and subsequently elected to pursue hospice care. CONCLUSION: When there is a high clinical suspicion for malignant angiosarcoma, a multidisciplinary approach is necessary to direct both tissue acquisition and necessary histochemical staining.
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Hemangiosarcoma , Esplenectomía , Neoplasias del Bazo , Esplenomegalia , Humanos , Femenino , Hemangiosarcoma/diagnóstico , Hemangiosarcoma/patología , Persona de Mediana Edad , Esplenomegalia/etiología , Neoplasias del Bazo/diagnóstico , Neoplasias del Bazo/complicaciones , Neoplasias del Bazo/patología , Fracturas Espontáneas/etiología , Diagnóstico Diferencial , Tomografía de Emisión de PositronesRESUMEN
Here, the case of a female patient in her late 60s, who presented to hospital for a scheduled health check relating to a history of myelofibrosis for the previous 9 years, is described. She recently experienced weight loss and abdominal distention. Physical examination revealed no abnormality or tenderness. Laboratory examination showed decreased blood cells, platelets and haemoglobin, and normal renal function. Ultrasound and computed tomography scans revealed a massively enlarged spleen and displaced and compressed left kidney with abnormal features, but normal right kidney. The patient declined surgery and her myelofibrosis was treated with ruxolitinib, with a recommendation of annual follow-up observation. Despite many recorded cases of left renal displacement caused by splenomegaly, it is very rare for the left kidney to be pushed across the midline to the right side by an enlarged spleen. This article explores the causes and management of this uncommon condition and provides a review of previous literature reports with the aim of enhancing the understanding of unusual renal displacement due to massive splenomegaly, and its potential treatment options.
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Riñón , Esplenomegalia , Humanos , Esplenomegalia/diagnóstico por imagen , Esplenomegalia/etiología , Esplenomegalia/diagnóstico , Esplenomegalia/patología , Femenino , Riñón/patología , Riñón/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Mielofibrosis Primaria/complicaciones , Mielofibrosis Primaria/diagnóstico , Mielofibrosis Primaria/patología , Persona de Mediana Edad , Ultrasonografía , Bazo/diagnóstico por imagen , Bazo/patología , Nitrilos/uso terapéutico , Pirazoles/uso terapéutico , Pirimidinas/uso terapéuticoRESUMEN
OBJECTIVE: COVID-19 induces the development of autoimmune diseases, including SLE, which are characterised by inflammation, autoantibodies and thrombosis. However, the effects of COVID-19 on SLE remain unclear. METHODS: We investigated the effects of COVID-19 on SLE development and progression in three animal models. Plasmids encoding SARS-CoV-2 spike protein and ACE2 receptor were injected into R848-induced BALB/C lupus mice, R848-induced IL-1 receptor antagonist knockout (KO) lupus mice and MRL/lpr mice. Serum levels of albumin and autoantibodies, lymphocyte phenotypes and tissue histology were evaluated. RESULTS: In R848-induced BALB/C lupus mice, the SARS-CoV-2 spike protein increased autoantibody and albumin levels compared with vehicle and mock treatments. These mice also exhibited splenomegaly, which was further exacerbated by the spike protein. Flow cytometric analysis revealed elevated T helper 1 cell counts, and histological analysis indicated increased levels of the fibrosis marker protein α-smooth muscle actin. In KO mice, the spike protein induced splenomegaly, severe kidney damage and pronounced lung fibrosis. In the MRL/lpr group, spike protein increased the serum levels of autoantibodies, albumin and the thrombosis marker chemokine (C-X-C motif) ligand 4. CONCLUSION: COVID-19 accelerated the development and progression of lupus by inducing autoantibody production, fibrosis and thrombosis.
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Autoanticuerpos , COVID-19 , Modelos Animales de Enfermedad , Lupus Eritematoso Sistémico , Nefritis Lúpica , Ratones Endogámicos BALB C , Ratones Noqueados , SARS-CoV-2 , Glicoproteína de la Espiga del Coronavirus , Animales , Glicoproteína de la Espiga del Coronavirus/inmunología , Nefritis Lúpica/patología , Nefritis Lúpica/inmunología , Ratones , COVID-19/inmunología , COVID-19/complicaciones , Autoanticuerpos/sangre , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/inmunología , Fibrosis Pulmonar/etiología , Fibrosis Pulmonar/inmunología , Fibrosis Pulmonar/patología , Ratones Endogámicos MRL lpr , Femenino , Esplenomegalia/etiología , Enzima Convertidora de Angiotensina 2/genética , Enzima Convertidora de Angiotensina 2/metabolismoRESUMEN
BACKGROUND Hypersplenism, the rapid and premature destruction of blood cells, encompasses a triad of splenomegaly, cytopenias (anemia, leukopenia, or thrombocytopenia), and compensatory bone marrow proliferation. Secondary hypersplenism results from non-intrinsic splenic diseases, such as hemoglobinopathies. Sickle cell disease consists of a group of genotypes, where hemoglobin sickle C disease (HbSC) is the inheritance of hemoglobin S with hemoglobin C. Most homozygous genotypes undergo complete auto-splenectomy by age 6 years, whereas those with HbSC disease rarely do. We report a rare case of hypersplenism and massive splenomegaly in an adult with sickle cell disease, the HbSC genotype, requiring splenectomy. CASE REPORT A 41-year-old woman with known splenomegaly initially presented to the general surgery clinic for management of abdominal pain. She was found to have anemia, indicating cytopenia likely from hypersplenism. Consequently, she underwent splenic artery embolization, followed by an exploratory laparotomy and splenectomy, with an unremarkable postoperative course. CONCLUSIONS Acute splenic sequestration crisis can result from hypersplenism, a potentially fatal complication of sickle hemoglobinemia. The continuous cycle of sickled cell entrapment and stasis causes numerous splenic infarctions, forming splenic parenchymal scar tissue which reduces the spleen's size and functionality - the process of auto-splenectomy. Adults rarely experience these crises past adolescence, which are secondary to the scarring and atrophy from premature auto-splenectomy. Our patient's spleen measured 21.1 cm, larger than the average adult's spleen. In our case, adjunctive preoperative splenic artery embolization likely contributed to decreased intraoperative blood loss during splenectomy, mitigating the need for perioperative transfusions.
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Anemia de Células Falciformes , Hiperesplenismo , Esplenectomía , Humanos , Femenino , Adulto , Hiperesplenismo/etiología , Anemia de Células Falciformes/complicaciones , Esplenomegalia/etiología , Embolización TerapéuticaRESUMEN
Introducción. Los quistes esplénicos son entidades anatómicas y clínicas poco frecuentes, con una incidencia aproximada de 0,07 %. Se clasifican como quistes esplénicos primarios, que contienen revestimiento epitelial y se subdividen en parasitarios y no parasitarios según su etiología, y quistes secundarios, que no poseen revestimiento epitelial en la luz quística y suelen ser el resultado de un traumatismo abdominal. Por lo general, son asintomáticos y se pueden encontrar de manera incidental durante estudios de imagen o en cirugía. Los síntomas están relacionados con el tamaño de los quistes. El tratamiento ideal es la resección quirúrgica, que puede ser total o parcial. Caso clínico. Paciente femenina de 23 años, sin antecedentes de trauma, con dolor abdominal intermitente, de varios meses de evolución. En los estudios imagenológicos se identificó un pseudoquiste esplénico gigante. Fue tratada mediante esplenectomía total por laparoscopia, sin complicaciones quirúrgicas. Resultados. Tuvo una adecuada evolución postoperatoria. Conclusión.El diagnóstico de quiste esplénico se realiza mediante estudios imagenológicos y se confirma con el análisis histopatológico. La esplenectomía total ha sido el tratamiento tradicional; sin embargo, ahora mediante la implementación de abordajes mínimamente invasivos, se prefiere la esplenectomía parcial, con el fin de preservar tejido esplénico y su función inmunológica.
Introduction.Splenic cysts are rare anatomical and clinical entities, with an approximate incidence of 0.07%. They are classified as primary splenic cysts, which contain epithelial lining and are subdivided into parasitic and non-parasitic depending on their etiology, and the secondary splenic cysts, which do not have an epithelial lining in the cystic lumen and are usually the result of abdominal trauma. They are usually asymptomatic and can be found incidentally during imaging studies or in surgery. The symptoms are related to the size of the cysts. The ideal treatment is surgical resection, which can be total or partial. Clinical case. A 23-year-old female patient, with no history of trauma, with intermittent abdominal pain, lasting several months. Imaging studies identified a giant splenic pseudocyst. She was treated by total laparoscopic splenectomy, without surgical complications. Results. She had an adequate postoperative evolution. Conclusion. The diagnosis of splenic cyst is made through imaging studies and confirmed with histopathological analysis. Total splenectomy has been the traditional treatment; however, now through the implementation of minimally invasive approaches, partial splenectomy is preferred, in order to preserve splenic tissue and its immunological function.
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Humanos , Esplenectomía , Enfermedades del Bazo , Bazo , Esplenomegalia , QuistesRESUMEN
T-cell large granular lymphocytic (T-LGL) leukaemia is frequently associated with an autoimmune phenomenon; approximately one-third of patients have rheumatoid arthritis (RA). Intriguingly, one-third of patients with rheumatoid arthritis exhibit clonal T-cell patterns. Here, we present a patient with RA undergoing evaluation for neutropenia and splenomegaly who was later diagnosed with T-LGL leukaemia.
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Artritis Reumatoide , Leucemia Linfocítica Granular Grande , Humanos , Artritis Reumatoide/complicaciones , Leucemia Linfocítica Granular Grande/diagnóstico , Leucemia Linfocítica Granular Grande/complicaciones , Esplenomegalia/etiología , Masculino , Neutropenia/etiología , Persona de Mediana Edad , FemeninoRESUMEN
RATIONALE: Gaucher disease (GD) is a rare hereditary lysosomal storage disorder disease progression and inappropriate treatment. However, not all patients with GD receive timely diagnosis and treatment. PATIENT CONCERNS: Early diagnosis is important for initiating proper treatment and preventing complications. DIAGNOSES: Two patients were diagnosed as GD in this study. INTERVENTIONS AND OUTCOMES: These 2 patients received the imiglucerase enzyme replacement and symptoms significantly improved by the follow-up. LESSONS: Herein, we report 2 patients with a delayed diagnosis of GD to increase awareness and improve education regarding rare diseases. However, noninvasive ß-glucocerebrosidase activity or GBA gene testing had not been done before bone marrow aspiration, which are the noninvasive and reliable tests that indicate the diagnosis of GD.
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Diagnóstico Tardío , Enfermedad de Gaucher , Esplenomegalia , Trombocitopenia , Adulto , Humanos , Terapia de Reemplazo Enzimático/métodos , Enfermedad de Gaucher/diagnóstico , Enfermedad de Gaucher/genética , Enfermedad de Gaucher/complicaciones , Esplenomegalia/etiología , Trombocitopenia/diagnósticoRESUMEN
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.
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Antimaláricos , Malaria , Esplenomegalia , Humanos , Esplenomegalia/etiología , Esplenomegalia/parasitología , Burkina Faso/epidemiología , Masculino , Femenino , Estudios Retrospectivos , Adulto , Antimaláricos/uso terapéutico , Adolescente , Persona de Mediana Edad , Malaria/complicaciones , Malaria/epidemiología , Malaria/tratamiento farmacológico , Adulto Joven , Pirimetamina/uso terapéutico , Combinación Arteméter y Lumefantrina/uso terapéutico , Sulfadoxina/uso terapéutico , Niño , Enfermedades Endémicas , Combinación de MedicamentosRESUMEN
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 â¦9.71 × 109/L, platelet count â¦140 × 109/L, mCTSI â§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.
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Nomogramas , Pancreatitis , Esplenomegalia , Tomografía Computarizada por Rayos X , Humanos , Masculino , Femenino , Estudios Retrospectivos , Pancreatitis/complicaciones , Persona de Mediana Edad , Estudios de Casos y Controles , Modelos Logísticos , Esplenomegalia/etiología , Esplenomegalia/diagnóstico por imagen , Factores de Riesgo , Adulto , Recuento de Plaquetas , Recuento de Leucocitos , Índice de Severidad de la Enfermedad , Enfermedad Aguda , AncianoRESUMEN
INTRODUCTION: The typical clinical manifestations of T-cell large granular lymphocyte (T-LGL) leukemia are an increase in the number of large granular lymphocytes (LGLs) in the blood > 2000 cells/µL, neutropenia, and splenomegaly. In rare cases of so-called 'aleukemic' T-LGL leukemia, the number of LGLs is <400-500 cells/µL. In patients with rheumatoid arthritis (RA), distinguishing T-LGL leukemia with low tumor burden in the blood and bone marrow from Felty syndrome (FS) poses diagnostic challenges. AREAS COVERED: This review aimed to describe the basic characteristics and variants of aleukemic T-LGL leukemia, with a special focus on aleukemic T-LGL leukemia with massive splenomegaly (splenic variant of T-LGL leukemia) and differential diagnosis of such cases with hepatosplenic T-cell lymphoma. The significance of mutations in the signal transducer and activator of transcription 3 (STAT3) gene for distinguishing aleukemic RA-associated T-LGL leukemia from FS is discussed, along with the evolution of the T-LGL leukemia diagnostic criteria. PubMed database was used to search for the most relevant literature. EXPERT OPINION: Evaluation of STAT3 mutations in the blood and bone marrow using next-generation sequencing, as well as a comprehensive spleen study, may be necessary to establish a diagnosis of aleukemic RA-associated T-LGL leukemia.
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Artritis Reumatoide , Síndrome de Felty , Leucemia Linfocítica Granular Grande , Mutación , Factor de Transcripción STAT3 , Humanos , Leucemia Linfocítica Granular Grande/diagnóstico , Artritis Reumatoide/diagnóstico , Síndrome de Felty/diagnóstico , Factor de Transcripción STAT3/genética , Factor de Transcripción STAT3/metabolismo , Diagnóstico Diferencial , EsplenomegaliaRESUMEN
OBJECTIVES: Common Variable Immunodeficiency Disorders (CVID) and Large Granular Lymphocytes leukemia (LGLL) exhibit diverse clinical manifestations including infections, dysimmunity, and lymphoproliferation. Recent decades have seen the discovery of new genes in the lymphopoiesis pathway, such as JAK-STAT. This case series supplemented by a literature review aims to describe clinical and biological characteristics of patients with both CIVD and LGLL. METHODOLOGY: Patients were included through a call for comments to French and Belgian centers and through a literature review via PubMed. Clinical characteristics were compared to two large French cohort involving CVID and LGLL patients. RESULTS: Twelve patients were included. In all cases, CVID precedes LLGL (median diagnosis delay for LLGL was 7 years). Most cases presented with splenomegaly and autoimmune cytopenia. Ten out of 12 patients underwent splenectomy during follow up. CONCLUSIONS: Patients with LGLL and CVID differ from patients without immune deficiency in term of clinical presentation and prognosis. We suggest CVID may act as a trigger of LGL lymphocytosis, due to endogenous and exogenous antigenic pressure leading to the selection of a dominant LGL clone and stimulation of the JAK-STAT pathway. The role of splenomegaly and splenectomy in LGLL onset warrant further investigation in future studies.
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Inmunodeficiencia Variable Común , Leucemia Linfocítica Granular Grande , Humanos , Leucemia Linfocítica Granular Grande/diagnóstico , Leucemia Linfocítica Granular Grande/etiología , Leucemia Linfocítica Granular Grande/complicaciones , Inmunodeficiencia Variable Común/diagnóstico , Inmunodeficiencia Variable Común/complicaciones , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , Pronóstico , Esplenectomía , Inmunofenotipificación , Susceptibilidad a Enfermedades , Esplenomegalia/etiología , Esplenomegalia/diagnósticoRESUMEN
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.
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Anemia de Células Falciformes , Hidroxiurea , Humanos , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/tratamiento farmacológico , Estudios Retrospectivos , Niño , Masculino , Femenino , Hidroxiurea/uso terapéutico , Hidroxiurea/efectos adversos , Adolescente , Preescolar , Enfermedades del Bazo/etiología , Enfermedades del Bazo/epidemiología , Lactante , Esplenomegalia/etiología , Esplenomegalia/epidemiología , Antidrepanocíticos/uso terapéutico , Antidrepanocíticos/efectos adversos , Esplenectomía , PrevalenciaRESUMEN
Sickle cell disease (SCD) includes a group of heterogenous disorders that result in significant morbidities. HbSS is the most common type of SCD and HbSC is the second most common type of SCD. The prevalence of HbSC disease in the United States and United Kingdom is ~1 in 7174 births and 1 in 6174 births respectively. Despite its frequency, however, HbSC disease has been insufficiently studied and was historically categorized as a more 'mild' form of SCD. We conducted this study of HbSC disease as part of the NHLBI funded Sickle Cell Disease Implementation Consortium (SCDIC). The SCDIC registry included 2282 individuals with SCD, ages 15-45 years of whom 502 (22%) had HbSC disease. Compared with people with sickle cell anaemia (SCA), the study found that people with HbSC disease had a higher frequency of splenomegaly (n (%) = 169 (33.7) vs. 392 (22.1)) and retinopathy (n (%) = 116 (23.1) vs. 189 (10.6)). A Many people with HbSC also had avascular necrosis (n (%) = 112 (22.3)), pulmonary embolism (n (%) = 43 (8.6)) and acute chest syndrome (n (%) = 228 (45.4)) demonstrating significant disease severity. HbSC disease is more clinically severe than was previously recognized and deserves additional evaluation and targeted treatments.
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Anemia de Células Falciformes , Humanos , Adolescente , Masculino , Femenino , Adulto , Persona de Mediana Edad , Adulto Joven , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/complicaciones , Enfermedad de la Hemoglobina SC/complicaciones , Sistema de Registros , Estados Unidos/epidemiología , Esplenomegalia/etiología , Esplenomegalia/epidemiologíaRESUMEN
OBJECTIVE: To assess the prevalence and predictors of splenic dysfunction in children with sickle cell disease (SCD). METHODS: A cross-sectional study was conducted between June 2019 and December 2020 where children aged 1 to 15 years of age with SCD were screened for splenic dysfunction. Children who were splenectomised, those with other diseases known to affect splenic function like congenital malformations, immunodeficiencies, and chronic diseases like tuberculosis, nephrotic syndrome, diabetes mellitus, chronic liver disease, celiac disease or malignancy were excluded. Splenic size was assessed by clinical examination and ultrasonography. Splenic dysfunction was assessed by Technetium-99m (99mTc) labeled autologous RBCs and by the presence of Howell Jolly bodies in the peripheral smear. Laboratory and clinical predictors of splenic dysfunction were assessed by multiple logistic regression. RESULTS: We evaluated 66 children with SCD with a mean (SD) age of 7.41 (3.3) years. Impaired and absent splenic function as assessed by 99mTc scintigraphy was found in 13 (19.7%), and 3 (4.6%) children, respectively. Howell Jolly bodies in peripheral smear were found in 5 (7.5%) children; 3 of them had abnormal uptake on scintigraphy; all five had splenomegaly. Age > 5 years, > 4 episodes of vaso-occlusive crisis (VOC), > 3 hospitalization events in the past, > 5 blood transfusions, children not receiving hydroxyurea, reticulocyte count > 4%, and HbS > 70% were independent predictors of splenic dysfunction. CONCLUSION: The prevalence of splenic dysfunction in children with SCD in Central India is lower than that reported from the West. The decision to start antibiotic prophylaxis can be individualized in these children.
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Anemia de Células Falciformes , Enfermedades del Bazo , Humanos , Niño , India/epidemiología , Estudios Transversales , Preescolar , Masculino , Femenino , Anemia de Células Falciformes/epidemiología , Anemia de Células Falciformes/complicaciones , Anemia de Células Falciformes/fisiopatología , Adolescente , Lactante , Enfermedades del Bazo/epidemiología , Prevalencia , Esplenomegalia/epidemiología , Esplenomegalia/etiología , Bazo/diagnóstico por imagen , Cintigrafía/métodosRESUMEN
A 4-month-old full-term female presented with growth faltering associated with progressive feeding difficulty, rash, abdominal distension, and developmental delays. She was found to have disconjugate gaze, abnormal visual tracking, mixed tone, bruising, and splenomegaly on examination. Initial workup was notable for thrombocytopenia and positive cytomegalovirus (CMV) immunoglobulin G and immunoglobulin M antibodies. She initially presented to the infectious diseases CMV clinic, where she was noted to have severe malnutrition, prompting referral to the emergency department for hospital admission to optimize nutrition with nasogastric tube feeding and facilitate additional evaluation. An active CMV infection with viruria and viremia was confirmed, but elements of her presentation and workup including brain magnetic resonance imaging were not consistent with isolated CMV infection. To avoid premature diagnostic closure, a multidisciplinary workup was initiated and ultimately established her diagnosis.
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Esplenomegalia , Trombocitopenia , Humanos , Femenino , Lactante , Esplenomegalia/etiología , Esplenomegalia/diagnóstico por imagen , Trombocitopenia/diagnóstico , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico , Insuficiencia de Crecimiento/etiología , Diagnóstico DiferencialRESUMEN
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 17.1â¯% (acute myeloid leukemia) to 66.7â¯% (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 (≥20â¯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, <20â¯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, <15â¯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.
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Ciclofosfamida , Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Esplenomegalia , Humanos , Ciclofosfamida/efectos adversos , Ciclofosfamida/uso terapéutico , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Esplenomegalia/etiología , Femenino , Masculino , Persona de Mediana Edad , Adulto , Enfermedad Injerto contra Huésped/etiología , Adolescente , Adulto Joven , Anciano , Rechazo de Injerto/etiología , Trasplante Homólogo/efectos adversos , Factores de Riesgo , Estudios Retrospectivos , Inmunosupresores/efectos adversos , Inmunosupresores/uso terapéutico , Neoplasias Hematológicas/terapia , Niño , CitopeniaAsunto(s)
Inmunodeficiencia Variable Común , Fiebre , Hepatopatías , Hígado , Esplenomegalia , Anciano , Humanos , Masculino , Antibacterianos/uso terapéutico , Infecciones Bacterianas/diagnóstico , Infecciones Bacterianas/tratamiento farmacológico , Infecciones Bacterianas/etiología , Médula Ósea/patología , Inmunodeficiencia Variable Común/complicaciones , Inmunodeficiencia Variable Común/diagnóstico , Inmunodeficiencia Variable Común/terapia , Diagnóstico Diferencial , Enfermedades del Sistema Digestivo/diagnóstico , Enfermedades del Sistema Digestivo/diagnóstico por imagen , Enfermedades del Sistema Digestivo/tratamiento farmacológico , Enfermedades del Sistema Digestivo/etiología , Progresión de la Enfermedad , Fiebre/etiología , Granuloma/diagnóstico por imagen , Granuloma/tratamiento farmacológico , Granuloma/etiología , Hígado/patología , Hígado/diagnóstico por imagen , Hepatopatías/diagnóstico por imagen , Hepatopatías/tratamiento farmacológico , Hepatopatías/etiología , Neoplasias Hepáticas/patología , Imagen por Resonancia Magnética , Nódulos Pulmonares Múltiples/diagnóstico por imagen , Nódulos Pulmonares Múltiples/tratamiento farmacológico , Nódulos Pulmonares Múltiples/etiología , Recurrencia , Fiebre Recurrente/diagnóstico , Fiebre Recurrente/tratamiento farmacológico , Fiebre Recurrente/etiología , Esplenomegalia/diagnóstico por imagen , Esplenomegalia/tratamiento farmacológico , Esplenomegalia/etiología , Tomografía Computarizada por Rayos XRESUMEN
Introducción: La tuberculosis (TB) extrapulmonar es la afectación de cualquier órgano, sin compromiso pulmonar demostrado, como consecuencia de la diseminación hematógena/linfática del bacilo de Koch. Presentación de caso: Paciente en puerperio inmediato cursando cuadro clínico de gonalgia que se estudió con resonancia magnética que mostró lesión endomedular en región distal del fémur izquierdo. Se estudió con tomografía de tórax, abdomen y pelvis que evidenciaron otras lesiones a nivel esplénico, sin compromiso hepático ni pulmonar. Se realizó punción diagnóstica femoral con evidencia de granulomas con necrosis central. Se interpretó tuberculosis extrapulmonar y se inició tratamiento antifímico con mejora sintomática. Discusión: La TB extrapulmonar puede impactar a nivel de pleura, ganglios linfáticos, vías urinarias, sistema osteoarticular, sistema nervioso central y abdomen. En el embarazo, la prevalencia de TB extrapulmonar es baja. Conclusión: La TB femoral y esplénica concomitante en pacientes embarazadas es un hallazgo infrecuente por lo que su análisis resulta de gran importancia. Arribar al diagnóstico requiere un elevado índice de sospecha. El retraso diagnóstico conlleva a un aumento de la morbimortalidad
Introduction: Extrapulmonary tuberculosis (TB) is the involvement of any organ, without demonstrated pulmonary involvement, as a consequence of the hematogenous/lymphatic dissemination of the Koch bacillus. Case presentation: Patient in the immediate postpartum period with clinical symptoms of gonalgia that was studied with magnetic resonance imaging showing intramedullary lesion in the distal region of the left femur. A CT scan of the chest, abdomen and pelvis showed other lesions at the splenic level, without liver or lung involvement. A femoral diagnostic puncture was performed with evidence of granulomas with central necrosis. Extrapulmonary tuberculosis was interpreted and antifimic treatment was started with symptomatic improvement. Discussion: Extrapulmonary TB can impact the pleura, lymph nodes, urinary tract, osteoarticular system, central nervous system and abdomen. During pregnancy, the prevalence of extrapulmonary TB is low. Conclusion: Concomitant femoral and splenic TB in pregnant patients is a rare finding, which is why its analysis is of great importance. Arriving at a diagnosis requires a high index of suspicion. Delayed diagnosis leads to an increase in morbidity and mortalit