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Pathobiology : Journal of... 2016We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective... (Review)
Review
We present a brief review of Gaucher disease (GD), the most common lysosomal storage disease. GD is a rare autosomal recessive disorder characterized by the defective function of the catabolic enzyme β-glucocerebrosidase (GBA), leading to an accumulation of its substrate, glucocerebroside. Clinical signs and symptoms include neurological dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia and thrombocytopenia. Enzyme replacement therapy with recombinant GBA is the mainstay of treatment for GD, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.
Topics: Enzyme Replacement Therapy; Gaucher Disease; Genetic Therapy; Glucosylceramidase; Humans; Hypersplenism; Splenomegaly
PubMed: 26588331
DOI: 10.1159/000440865 -
Journal of Clinical Medicine Feb 2021Thrombocytopenia, which signifies a low platelet count usually below 150 × 10/L, is a common finding following or during many viral infections. In clinical medicine,... (Review)
Review
Thrombocytopenia, which signifies a low platelet count usually below 150 × 10/L, is a common finding following or during many viral infections. In clinical medicine, mild thrombocytopenia, combined with lymphopenia in a patient with signs and symptoms of an infectious disease, raises the suspicion of a viral infection. This phenomenon is classically attributed to platelet consumption due to inflammation-induced coagulation, sequestration from the circulation by phagocytosis and hypersplenism, and impaired platelet production due to defective megakaryopoiesis or cytokine-induced myelosuppression. All these mechanisms, while plausible and supported by substantial evidence, regard platelets as passive bystanders during viral infection. However, platelets are increasingly recognized as active players in the (antiviral) immune response and have been shown to interact with cells of the innate and adaptive immune system as well as directly with viruses. These findings can be of interest both for understanding the pathogenesis of viral infectious diseases and predicting outcome. In this review, we will summarize and discuss the literature currently available on various mechanisms within the relationship between thrombocytopenia and virus infections.
PubMed: 33672766
DOI: 10.3390/jcm10040877 -
Journal of Nippon Medical School =... 2023As liver disease progresses, intrahepatic vascular resistance increases (backward flow theory of portal hypertension) and collateral veins develop. Adequate portal... (Review)
Review
As liver disease progresses, intrahepatic vascular resistance increases (backward flow theory of portal hypertension) and collateral veins develop. Adequate portal hypertension is required to maintain portal flow into the liver through an increase in blood flow into the portal venous system (forward flow theory of portal hypertension). The splenic artery resistance index is significantly and selectively elevated in cirrhotic patients. In portal hypertension, a local hyperdynamic state occurs around the spleen. Splenomegaly is associated with a poor prognosis in cirrhosis and is caused by spleen congestion and by enlargement and hyperactivation of splenic lymphoid tissue. Hypersplenism can lead to thrombocytopenia caused by increased sequestering and breakdown of platelets in the spleen. The close relationship between the spleen and liver is reflected in the concept of the hepatosplenic axis. The spleen is a regulatory organ that maintains portal flow into the liver and is the key organ in the forward flow theory of portal hypertension. This review summarizes the literature on the role of the spleen in portal hypertension.
Topics: Humans; Hypertension, Portal; Splenomegaly; Hypersplenism; Liver Cirrhosis; Portal Vein
PubMed: 36908126
DOI: 10.1272/jnms.JNMS.2023_90-104 -
World Journal of Clinical Cases Dec 2016The primary splenic lymphoma is extremely uncommon, can present with grave complications like hypersplenism and splenic rupture. In view of vague clinical presentation,...
The primary splenic lymphoma is extremely uncommon, can present with grave complications like hypersplenism and splenic rupture. In view of vague clinical presentation, it is difficult to arrive at the diagnosis. In such circumstances, histopathological diagnosis is very important. A precise diagnosis can only be made on histopathology and confirmed on immunohistochemistry.Emergency splenectomy is preferred as an effective therapeutic and diagnostic tool in cases with giant splenomegaly. Core biopsy is usually not advised due to a high risk of post-core biopsy complications in view of its high vascularity and fragility. Aim behind highlighting the topic is to specify that core biopsy/ fine needle aspiration cytology can be used as an effective diagnostic tool to arrive at correct diagnosis to prevent untoward complications related to disease and treatment. Anticoagulation therapy is vital after splenectomy to avoid portal splenic vein thrombosis.
PubMed: 28035311
DOI: 10.12998/wjcc.v4.i12.385 -
Experimental and Therapeutic Medicine Oct 2016Hypersplenism is a common disorder characterized by an enlarged spleen which causes rapid and premature destruction of blood cells. This review summarizes the history of...
Hypersplenism is a common disorder characterized by an enlarged spleen which causes rapid and premature destruction of blood cells. This review summarizes the history of hypersplenism, discuss its classification and pathogenesis, and examines its diagnosis and treatment options. We performed a comprehensive literature search using PubMed, Web of Knowledge and the China National Knowledge Infrastructure (CNKI) database, reviewed hypersplenism-related articles and summarized the major findings. According to its etiological causes, hypersplenism is characterized by splenomegaly and peripheral cytopenias. It can be classified into three categories: i) primary hypersplenism; ii) secondary hypersplenism; and iii) occult hypersplenism. A number of mechanisms causing hypersplenism have been identified, and mainly involve retention in the spleen, phagocytosis, and autoimmunity. Treatment options for hypersplenism include etiological treatment, non-surgical treatment, total splenectomy and liver transplantation. In any case, treatment should be individualized for each patient.
PubMed: 27703501
DOI: 10.3892/etm.2016.3683 -
Hepatology Forum May 2021Hepatic vena cava syndrome (HVCS) is a bacterial infection-induced obliterative disease of the inferior vena cava at the site of the hepatic vein openings that causes...
BACKGROUND AND AIM
Hepatic vena cava syndrome (HVCS) is a bacterial infection-induced obliterative disease of the inferior vena cava at the site of the hepatic vein openings that causes chronic liver disease with a high incidence of liver cirrhosis and a moderate incidence of hepatocellular carcinoma (HCC). HVCS typically manifests clinically as recurrent mild jaundice and/or a mild elevation of transaminases or ascites as a result of hepatic venous outflow obstruction. This study is an investigation of the complications and treatment results of a large cohort of HVCS patients with an emphasis on splenomegaly and hypersplenism.
MATERIALS AND METHODS
A total of 1935 (1335 male and 600 female) patients with HVCS seen between 2004 and 2019 for splenomegaly and hypersplenism were enrolled in this retrospective study. The incidence of splenomegaly, ascites, cirrhosis, HCC, and other complications was measured and analyzed.
RESULTS
Long-term follow-up of a large study group seen over several years indicated that 16% had mild splenomegaly, and 50% of these developed cytopenia commonly thrombocytopenia and/or leucopenia.
CONCLUSION
The development of hypersplenism was related to recurrent or prolonged acute exacerbation of HVCS. This resulted in an increased incidence of ascites and cirrhosis as well as complications, such as hepatic encephalopathy, gastrointestinal or mucosal bleeding, or mortality.
PubMed: 35783897
DOI: 10.14744/hf.2021.2021.0008 -
Abdominal Radiology (New York) Nov 2020Portal hypertension (PH) is a spectrum of complications of chronic liver disease (CLD) and cirrhosis, with manifestations including ascites, gastroesophageal varices,... (Review)
Review
Portal hypertension (PH) is a spectrum of complications of chronic liver disease (CLD) and cirrhosis, with manifestations including ascites, gastroesophageal varices, splenomegaly, hypersplenism, hepatic hydrothorax, hepatorenal syndrome, hepatopulmonary syndrome and portopulmonary hypertension. PH can vary in severity and is diagnosed via invasive hepatic venous pressure gradient measurement (HVPG), which is considered the reference standard. Accurate diagnosis of PH and assessment of severity are highly relevant as patients with clinically significant portal hypertension (CSPH) are at higher risk for developing acute variceal bleeding and mortality. In this review, we discuss current and upcoming noninvasive imaging methods for diagnosis and assessment of severity of PH.
Topics: Elasticity Imaging Techniques; Esophageal and Gastric Varices; Gastrointestinal Hemorrhage; Humans; Hypertension, Portal; Liver Cirrhosis
PubMed: 32926209
DOI: 10.1007/s00261-020-02729-7 -
California Medicine Jan 1973These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California, San Francisco. Taken from transcriptions, they...
These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California, San Francisco. Taken from transcriptions, they are prepared by Drs. David W. Martin, Jr., Assistant Professor of Medicine, and Kenneth A. Woeber, Associate Professor of Medicine, under the direction of Dr. Lloyd H. Smith, Jr., Professor of Medicine and Chairman of the Department of Medicine. Requests for reprints should be sent to the Department of Medicine, University of California, San Francisco, San Francisco, Ca. 94122.
Topics: Blood Platelet Disorders; Blood Platelets; Cell Survival; Chromium Isotopes; Hypersplenism; Purpura, Thrombocytopenic; Splenomegaly
PubMed: 4734413
DOI: No ID Found