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| __NOTOC__ | | __NOTOC__ |
| {{Asplenia}} | | {{Asplenia}} |
| {{CMG}}{{AE}}{{Anum Dilip}} | | {{CMG}}{{AE}} {{Kalpana Giri}} |
| ==Overview== | | ==Overview== |
| [[Hippocrates]] made the first description of the [[gross anatomy]] of the [[spleen]] in 421 BC. In 1899, [[Chauffard]] described that [[increased]] [[splenic]] activity is [[linked]] to [[hemolysis]], and in 1910, [[Sutherland and Brughard]] performed the first [[therapeutic splenectomy]] in a patient with hereditary spherocytosis. In 1919, Morris and Bullock provided initial [[experimental]] evidence of the protective role of the [[spleen]] against [[infections]]. Asplenia may be classified into two groups based on its cause: [[Congenital]]: Isolated asplenia, heterotaxy syndrome, and [[Acquired]]: Functional asplenia. The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.
| | Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]].The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. |
| The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]]. Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]]. [[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]]. Asplenia is caused by either [[congenital]], [[acquired conditions]], or [[functional]]. Common cause include: Acquired asplenia associated after [[trauma]] or [[surgery]], is one of the commonest cause of the absence of [[splenic tissue]], Functional asplenia include [[diseases]] such as [[sickle cell (SC) disease]], [[hemoglobin SC disease]] and [[sickle beta-thalassemia]], Hyposplenia occurs due to [[medical conditions]] such as [[chronic liver disease]], [[human immunodeficiency syndrome (HIV)]], [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]]. Less Common Causes include: Congenital asplenia may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]]. The [[differential diagnosis]] of asplenia includes [[hyposplenia]]. The [[incidence]] of [[congenital asplenia]] is approximately [[1/10,000 to 1/40,000 live births]] per 100,000 [[individuals]] worldwide. [[Heterotaxy syndrome]] with [[asplenia]] and [[right atrial]] [[isomerism]] occurring approximately in 1 in [[10,000-40,000 births]]. The [[prevalence]] of [[asplenia]] is [[vary]] among different conditions. The prevalence of [[Isolated congenital asplenia]] is 0.51 [[per million births]], in [[alcoholic liver disease]], is about 37-100%, [[celiac disease]] 33-76% , [[Whipple’s disease]] 47% and in [[bone marrow transplantation]] 40% , and in other cases the [[frequency]] of [[hyposplenism]] is relatively low such as in [[systemic lupus erythematosu]]s around 7%. The [[mortality]] remains [[high]], at [[greater than 60%]], in asplenic patients who are at risk for [[overwhelming infection]] and when they are [[complicated]] by [[invasive infection]]. [[Patients]] younger than 16 years old are considered to be at [[higher risk]] of OPSI due to their [[immature immune system]]. Asplenia occurs slightly more often in [[males]] than in [[females]]. Common risk factors include: [[Trauma]]; [[atraumatic]] indication for [[splenectomy]] includes: [[hematological autoimmune disorder]], [[Idiopathic Thrombocytopenic Purpura (ITP)]], [[Autoimmune Hemolytic Anemia (AIHA)]]; [[Surgery]] includes: [[unexplained splenomegaly]], [[autoimmune]], [[malignant]]. Less Common Risk Factors include: mutation in [[gene RPSA]] and human [[genes]], [[connexin 43]] and [[ZIC3]]. [[screening]] for [[asplenia]] is by the [[detection]] of [[Howell-Jolly bodies]] (ie, [[erythrocytes]] with [[nuclear remnants]]) in peripheral blood smear. If left [[untreated]], [[Patients]] with [[asplenia]] or [[hyposplenia]] are at risk of [[life-threatening]] [[infection]]. Common complications include: [[overwhelming post-splenectomy infection (OPSI)]], [[Infection]] with [[encapsulated microorganisms]] such as [[Streptococcus pneumonia]], [[Neisseria meningitides]] and [[Haemophilous influenzae]], [[Arterial]] and [[Venous thrombosis]], [[Waterhouse-Friedrichsen syndrome]]. Less common complications include: [[infections]] due to [[Capnocytophaga]], [[Babesia]], and [[malaria]]. Prognosis of asplenia is [[poor]]. [[Spleen scintigraphy]] is the [[gold standard]] test for the diagnosis of Asplenia. Patients with [[asplenia]] may have a [[positive]] history of [[Trauma]], [[Surgery]], [[sickle cell disease]], [[chronic liver disease]], [[human immunodeficiency syndrome (HIV)]], [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]], [[mutations]] in [[RPSA]], [[connexin 43]] and [[ZIC3]]. Common Symptoms include: *[[Chills]], [[Sore throat]], [[Diarrhoea]], [[muscle aches]], [[Abdominal pain], [[Nausea]] and [[vomiting]], [[Neck stiffness]], [[Altered mental status]]. Less Common Symptoms include [[Cyanosis]], [[Respiratory distress]]. [[physical]] findings depend on the [[associated]] [[anomalies]]. Patients with [[sickle cell disease]], especially [[children]] may have [[enlarged]] spleen. Physical exam features typically include [[Cyanosis]], [[Cold extremities]], [[Stiff neck]], [[Breathlessness]], [[Pan-systolic murmur]], [[Pre-cordial bulge]], [[Ejection systolic murmur]], [[Right sided apex beat]], [[Abdominal tenderness]]. [[Detection]] of [[Howell-Jolly bodies]] in [[peripheral blood smear]], is [[diagnostic]] of [[asplenia]]. Emergency Medical Management of suspected sepsis in Asplenic patient with [[antibiotics]] and [[immunization]]. Effective measures for the primary prevention of infection in asplenic patients include immunizations against Streptococcus pneumoniae, Haemophilus influenzae type b (Hib), and Neisseria meningitidis, antibiotic prophylaxis, and malaria prophylaxis. | |
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| ==Historical Perspective== | | ==Historical Perspective== |
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| ==Pathophysiology== | | ==Pathophysiology== |
| The [[spleen]] consists of three [[functional]] inter-related [[compartments]]: [[red pulp]], [[white pulp]], [[marginal zone]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. It contains both [[hematopoietic]] and [[lymphopoietic]] elements, which provides a basis for [[extramedullary hematopoiesis]] when necessary.
| | Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The [[primary physiologic]] role of [[spleen]] is the [[filtration]] and processing of [[senescent blood cells]], predominantly [[red blood cells]] and [[immunologically]] helps protect against [[encapsulated microorganisms]] and response to [[infectious pathogens]]. The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. |
| The [[spleen]] plays [[integral roles]] in the [[immune system]] and [[reticuloendothelial systems]]. It also [[modulates]] the [[inflammatory]] and [[coagulation cascades]]. Asplenia can refer to an [[anatomic]] absence of the [[spleen]] or [[functional asplenia]] secondary to a variety of [[disease]] states. The absence of a [[spleen]] is a well-known [[risk factor]] for severe [[bacterial infections]], especially due to [[encapsulated bacteria]]. The spleen contains 2 types of tissues: [[white pulp]] and [[red pulp]]. The [[white pulp]] is rich in [[T-cell lymphocytes]], [[naïve B-cell lymphocytes]], and [[macrophages]]. The [[antigen-presenting cells]] (APC) can enter the [[white pulp]] and activate [[T cells]], which in turn activate [[naïve B cells]] and [[differentiate]] into [[plasma cells]] that generate [[immunoglobulin M]] [[antibodies]] followed by [[immunoglobulin G]] [[antibodies]]. [[B cells]] can also act as [[antigen-presenting cells]] and has a [[phagocytic function]] to help [[opsonize]] [[encapsulated bacteria]]. About half of the [[total B cells]] in the [[blood]] [[express]] the [[memory marker]] [[CD27]] and carry [[somatic mutations]], and are therefore thought to be [[memory B cells]]. There are two types of [[memory B cells]] in human beings: [[switched memory B cells]] and [[IgM memory B cells]]. [[Switched memory B cells]], which are the final product of [[germinal center reactions]], produce [[high-affinity antibodies]] and have a [[protective]] function against [[infection]]. [[IgM memory B cells]], need the [[spleen]] for their [[survival]] and [[generation]] and have the ability to produce [[natural antibodies]]. They also produce [[antibodies]] against [[Streptococcus pneumonia]], [[Neisseria meningitidis]], and [[Haemophilus influenzae type b]]. The [[red pulp]] has [[macrophages]] and is responsible for [[filtering]] damaged, older [[red blood cells]] as well as [[phagocytosing]] [[opsonized bacteria]]. Due to this role of removing [[damaged erythrocytes]], the [[spleen]] also plays an important role in the [[defense against]] [[intraerythrocytic]] [[parasitic infections]] such as [[malaria]] and [[Babesia]]. [[Functional asplenia]] is associated with [[sickle cell anemia]], [[hemoglobin sickle cell disease]], and [[sickle cell hemoglobin β thalassemia]]. Patient with these [[hemoglobinopathies]] starts [[losing]] a [[splenic function]], where the [[spleen]] is initially [[enlarged]] due to [[excessive]] [[red cell entrapment]] results in [[atrophy]] and [[degeneration]] in [[advanced disease]]. This [[atrophy]] is called [[autosplenectomy]] and may be [[consequent]]] to [[multiple]] [[acute episodes]] of [[entrapment]] of [[massive red cell volumes]] in the [[splenic tissue]], followed by [[splenic infarctions]]. Genes involved in the [[pathogenesis]] of Isolatd congenital asplenia include: [[Mutations]] in [[RPSA exons]] can affect the [[translated]] or [[untranslated]] regions and can underlie Isolatd congenital asplenia(ICA) with [[complete]] or [[incomplete]] [[penetrance]].
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| ==Causes== | | ==Causes== |
| Asplenia is caused by either [[congenital]], [[acquired conditions]], or [[functional]]. Common cause include: Acquired asplenia associated after [[trauma]] or [[surgery]], is one of the commonest cause of the absence of [[splenic tissue]], Functional asplenia include [[diseases]] such as [[sickle cell (SC) disease]], [[hemoglobin SC disease]] and [[sickle beta-thalassemia]], Hyposplenia occurs due to [[medical conditions]] such as [[chronic liver disease]], [[human immunodeficiency syndrome (HIV)]], [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]]. Less Common Causes include: Congenital asplenia may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]]. | | Asplenia is caused by either [[congenital]], [[acquired conditions]], or [[functional]]. Common cause include: Acquired asplenia associated after [[trauma]] or [[surgery]], is one of the commonest cause of the absence of [[splenic tissue]], Functional asplenia include [[diseases]] such as [[sickle cell (SC) disease]], [[hemoglobin SC disease]] and [[sickle beta-thalassemia]], Hyposplenia occurs due to [[medical conditions]] such as [[chronic liver disease]], [[human immunodeficiency syndrome (HIV)]], [[malignancies]], [[thalassemia]], [[celiac disease]], [[ulcerative colitis]], [[sarcoidosis]], [[amyloidosis]], [[lupus]], [[rheumatoid arthritis]]. Less Common Causes include: Congenital asplenia may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]]. |
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| ==Differentiating {{PAGENAME}} from Other Diseases== | | ==Differentiating asplenia from Other Diseases== |
| The [[differential diagnosis]] of asplenia includes [[hyposplenia]]. | | The [[differential diagnosis]] of asplenia includes [[hyposplenia]]. |
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| ===Primary Prevention=== | | ===Primary Prevention=== |
| | Effective measures for the primary prevention of infection in asplenic patients include immunizations against Streptococcus pneumoniae, Haemophilus influenzae type b (Hib), and Neisseria meningitidis, antibiotic prophylaxis, and malaria prophylaxis. |
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| ===Secondary Prevention=== | | ===Secondary Prevention=== |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Kalpana Giri, MBBS[2]
Overview
Asplenia can refer to an anatomic absence of the spleen or functional asplenia secondary to a variety of disease states. The spleen plays integral roles in the immune system and reticuloendothelial systems.The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria.
Historical Perspective
Hippocrates made the first description of the gross anatomy of the spleen in 421 BC. In 1899, Chauffard described that increased splenic activity is linked to hemolysis, and in 1910, Sutherland and Brughard performed the first therapeutic splenectomy in a patient with hereditary spherocytosis. In 1919, Morris and Bullock provided initial experimental evidence of the protective role of the spleen against infections.
Classification
Asplenia may be classified into two groups based on its cause: Congenital: Isolated asplenia, heterotaxy syndrome, and Acquired: Functional asplenia.
Pathophysiology
Asplenia can refer to an anatomic absence of the spleen or functional asplenia secondary to a variety of disease states. The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria. The primary physiologic role of spleen is the filtration and processing of senescent blood cells, predominantly red blood cells and immunologically helps protect against encapsulated microorganisms and response to infectious pathogens. The spleen plays integral roles in the immune system and reticuloendothelial systems.
Causes
Asplenia is caused by either congenital, acquired conditions, or functional. Common cause include: Acquired asplenia associated after trauma or surgery, is one of the commonest cause of the absence of splenic tissue, Functional asplenia include diseases such as sickle cell (SC) disease, hemoglobin SC disease and sickle beta-thalassemia, Hyposplenia occurs due to medical conditions such as chronic liver disease, human immunodeficiency syndrome (HIV), malignancies, thalassemia, celiac disease, ulcerative colitis, sarcoidosis, amyloidosis, lupus, rheumatoid arthritis. Less Common Causes include: Congenital asplenia may be isolated or usually seen as a clinical syndrome such as ivemark syndrome.
Differentiating asplenia from Other Diseases
The differential diagnosis of asplenia includes hyposplenia.
Epidemiology and Demographics
The incidence of congenital asplenia is approximately 1/10,000 to 1/40,000 live births per 100,000 individuals worldwide. Heterotaxy syndrome with asplenia and right atrial isomerism occurring approximately in 1 in 10,000-40,000 births. The prevalence of asplenia is vary among different conditions. The prevalence of Isolated congenital asplenia is 0.51 per million births, in alcoholic liver disease, is about 37-100%, celiac disease 33-76% , Whipple’s disease 47% and in bone marrow transplantation 40% , and in other cases the frequency of hyposplenism is relatively low such as in systemic lupus erythematosus around 7%. The mortality remains high, at greater than 60%, in asplenic patients who are at risk for overwhelming infection and when they are complicated by invasive infection. Patients younger than 16 years old are considered to be at higher risk of OPSI due to their immature immune system. Asplenia occurs slightly more often in males than in females.
Risk Factors
Common risk factors include: Trauma; atraumatic indication for splenectomy includes: hematological autoimmune disorder, Idiopathic Thrombocytopenic Purpura (ITP), Autoimmune Hemolytic Anemia (AIHA); Surgery includes: unexplained splenomegaly, autoimmune, malignant. Less Common Risk Factors include: mutation in gene RPSA and human genes, connexin 43 and ZIC3.
Screening
screening for asplenia is by the detection of Howell-Jolly bodies (ie, erythrocytes with nuclear remnants) in peripheral blood smear.
Natural History, Complications, and Prognosis
If left untreated, Patients with asplenia or hyposplenia are at risk of life-threatening infection. Common complications include: overwhelming post-splenectomy infection (OPSI), Infection with encapsulated microorganisms such as Streptococcus pneumonia, Neisseria meningitides and Haemophilous influenzae, Arterial and Venous thrombosis, Waterhouse-Friedrichsen syndrome. Less common complications include: infections due to Capnocytophaga, Babesia, and malaria. Prognosis of asplenia is poor.
Diagnosis
Diagnostic Study of Choice
Spleen scintigraphy is the gold standard test for the diagnosis of Asplenia.
History and Symptoms
Patients with asplenia may have a positive history of Trauma, Surgery, sickle cell disease, chronic liver disease, human immunodeficiency syndrome (HIV), malignancies, thalassemia, celiac disease, ulcerative colitis, sarcoidosis, amyloidosis, lupus, rheumatoid arthritis, mutations in RPSA, connexin 43 and ZIC3. Common Symptoms include: *Chills, Sore throat, Diarrhoea, muscle aches, [[Abdominal pain], Nausea and vomiting, Neck stiffness, Altered mental status. Less Common Symptoms include Cyanosis, Respiratory distress.
Physical Examination
physical findings depend on the associated anomalies. Patients with sickle cell disease, especially children may have enlarged spleen. Physical exam features typically include Cyanosis, Cold extremities, Stiff neck, Breathlessness, Pan-systolic murmur, Pre-cordial bulge, Ejection systolic murmur, Right sided apex beat, Abdominal tenderness.
Laboratory Findings
Detection of Howell-Jolly bodies in peripheral blood smear, is diagnostic of asplenia, Pitted erythrocytes in blood smear increases, Presence of target cells in the peripheral blood smear, Thrombocytosis.
Electrocardiogram
An Electrocardiogram may be helpful in the diagnosis of asplenia with complex cardiac anomalies.
X-ray
An X-ray of the chest can be done to assess Cardiomegaly, Pulmonary oligemia, Dextrocardia.
Echocardiography and Ultrasound
An Echo may be helpful in the diagnosis of asplenia with complex cardiac anomalies and an ultrasound may be helpful in the diagnosis of asplenia.
CT scan
CT scan may be helpful to define these structures in large patients or if overlying gas-filled bowel obscures the upper abdominal anatomy.
MRI
MR imaging may be helpful to define these structures in large patients or if overlying gas-filled bowel obscures the upper abdominal anatomy.
Other Imaging Findings
There are no other imaging findings associated with asplenia.
Other Diagnostic Studies
Blood and CSF cultures may be helpful in the diagnosis of asplenia.
Treatment
Medical Therapy
Emergency Medical Management of suspected sepsis in Asplenic patient with antibiotics and immunization.
Surgery
The mainstay of treatment for asplenia is medical therapy and prevention.
Primary Prevention
Effective measures for the primary prevention of infection in asplenic patients include immunizations against Streptococcus pneumoniae, Haemophilus influenzae type b (Hib), and Neisseria meningitidis, antibiotic prophylaxis, and malaria prophylaxis.
Secondary Prevention
Effective measures for the secondary prevention of asplenia include: Patient should carry an alert card or bracelet and an up-to-date vaccination record. The risk of infection can be significantly reduced by using systematic, long-term approaches. Patient and family education program that addresses the risk of infection in these at-risk patients.
References
Template:WikiDoc Sources