Asplenia: Difference between revisions
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===Congenital=== | ===Congenital=== | ||
*'''Congenital asplenia''' may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]]. This [[syndrome]] is classified under [[heterotaxy syndrome]]. It is associated with [[malformation]] of the [[heart]], and abnormal arrangements of organs of the chest and abdomen along with [[asplenia]] or [[hypoplasia]] of the [[spleen]].<ref name="pmid27735157">{{cite journal| author=Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I| title=Ivemark Syndrome. | journal=J Assoc Physicians India | year= 2016 | volume= 64 | issue= 5 | pages= 73-75 | pmid=27735157 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27735157 }} </ref> | *'''Congenital asplenia''' may be [[isolated]] or usually seen as a [[clinical syndrome]] such as [[ivemark syndrome]]. This [[syndrome]] is classified under [[heterotaxy syndrome]]. It is associated with [[malformation]] of the [[heart]], and abnormal arrangements of organs of the chest and abdomen along with [[asplenia]] or [[hypoplasia]] of the [[spleen]].<ref name="pmid27735157">{{cite journal| author=Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I| title=Ivemark Syndrome. | journal=J Assoc Physicians India | year= 2016 | volume= 64 | issue= 5 | pages= 73-75 | pmid=27735157 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27735157 }} </ref> | ||
*'''Isolated asplenia''' are rare and etiology was [[genetic]], due to [[mutations]] in the [[gene RPSA]], which encodes [[ribosomal protein SA]], cause more than half of the cases of [[isolated congenital asplenia]]. <ref name="pmid25840456">{{cite journal| author=Bolze A| title=[Connecting isolated congenital asplenia to the ribosome]. | journal=Biol Aujourdhui | year= 2014 | volume= 208 | issue= 4 | pages= 289-98 | pmid=25840456 | doi=10.1051/jbio/2015001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25840456 }} </ref> | *'''Isolated asplenia''' are rare and etiology was [[genetic]], due to [[mutations]] in the [[gene RPSA]], which encodes [[ribosomal protein SA]], cause more than half of the cases of [[isolated congenital asplenia]], which was first discovered in 2013. <ref name="pmid25840456">{{cite journal| author=Bolze A| title=[Connecting isolated congenital asplenia to the ribosome]. | journal=Biol Aujourdhui | year= 2014 | volume= 208 | issue= 4 | pages= 289-98 | pmid=25840456 | doi=10.1051/jbio/2015001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25840456 }} </ref> | ||
*In '''heterotaxy syndrome''' Two human [[genes]], [[connexin 43]] and [[ZIC3]], have been shown to be involved.<ref name="pmid19618213">{{cite journal| author=Ahmed SA, Zengeya S, Kini U, Pollard AJ| title=Familial isolated congenital asplenia: case report and literature review. | journal=Eur J Pediatr | year= 2010 | volume= 169 | issue= 3 | pages= 315-8 | pmid=19618213 | doi=10.1007/s00431-009-1030-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19618213 }} </ref> | |||
*congenital asplenia a very rare anomaly that has been reported in both infants and adults. | *congenital asplenia a very rare anomaly that has been reported in both infants and adults. | ||
*'''Infantile''' cases are almost invariably associated with serious congenital malformations of the [[cardiovascular]], [[gastrointestinal]], and [[pulmonary]] systems that are not compatible with long life. | *'''Infantile''' cases are almost invariably associated with serious congenital malformations of the [[cardiovascular]], [[gastrointestinal]], and [[pulmonary]] systems that are not compatible with long life. | ||
Revision as of 08:28, 13 July 2021
| Asplenia | |
| ICD-10 | D73.0, Q89.0 |
|---|---|
| ICD-9 | 289.59, 759.01 |
| OMIM | 208530 %271400 208540 |
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Asplenia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Asplenia On the Web |
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American Roentgen Ray Society Images of Asplenia |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief:
Synonyms and keywords:
Overview
Historical Perspective
- In 1919, Morris and Bullock provided initial experimental evidence of the protective role of the spleen against infections.[1]
- In 1952, King and Schumacker reported a series of cases of overwhelming post-splenectomy infections (OPSI) caused by encapsulated bacteria.
- In 1955, Rowley has demonstrated that splenectomized human beings fail to respond with a significant rise in antibody titer when an antigen is given intravenously.[2]
Classification
Pathophysiology
Physiology
The spleen consists of three functional inter-related compartments: red pulp, white pulp, marginal zone. The red pulp is a sponge-like structure filled with blood flowing through sinuses and cords functions as a filter for blood elements.[1] The white pulp consists primarily of lymphatic tissue creating structures called germinal centers which contain lymphocytes (activated B-lymphocytes among others), macrophages, and dendritic cells. They are situated in direct contact with splenic arterioles, branches of the splenic artery. Another region of the white pulp is that the periarteriolar lymphatic sheath, which consists of nodules containing mostly B lymphocytes. The marginal zone surrounds the white pulp and consists of blood vessels, macrophages, and specialized B cells.[3]
Pathology
It is understood that Asplenia is a variety of clinical settings, and it can refer to an anatomic absence of the spleen or functional asplenia secondary to a variety of disease states. [4] The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria.[5]
Causes
Asplenia is caused by either congenital, acquired conditions, or functional.
Congenital
- Congenital asplenia may be isolated or usually seen as a clinical syndrome such as ivemark syndrome. This syndrome is classified under heterotaxy syndrome. It is associated with malformation of the heart, and abnormal arrangements of organs of the chest and abdomen along with asplenia or hypoplasia of the spleen.[6]
- Isolated asplenia are rare and etiology was genetic, due to mutations in the gene RPSA, which encodes ribosomal protein SA, cause more than half of the cases of isolated congenital asplenia, which was first discovered in 2013. [7]
- In heterotaxy syndrome Two human genes, connexin 43 and ZIC3, have been shown to be involved.[8]
- congenital asplenia a very rare anomaly that has been reported in both infants and adults.
- Infantile cases are almost invariably associated with serious congenital malformations of the cardiovascular, gastrointestinal, and pulmonary systems that are not compatible with long life.
- These include atrioventricular communist, pulmonary stenosis or atresia, anomalies of the aorta and great vessels, complete or partial situs in versus, anomalies of the mesenteric and accessory lobes of the lungs.
- In the adult splenic agenesis is usually an isolated and unexpected finding.[2]
Acquired
- Acquired asplenia associated after trauma or surgery, is one of the commonest cause of the absence of splenic tissue.[5]
- Functional asplenia include diseases such as sickle cell disease, celiac disease, alcoholic liver disease, hepatic cirrhosis, lymphomas, and autoimmune disorders.[3]
Differentiating Asplenia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Natural History
- If left untreated, Patients with asplenia or hyposplenia are at risk of life-threatening infection.
- Overwhelming post-splenectomy infection (OPSI) occurs in 5% of patients and has a mortality rate of 38%–70%.
- Patients with functional asplenia and hyposplenia who have not undergone a splenectomy can present with a life-threatening infection comparable to an OPSI
Diagnosis
Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Interventions | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
Template:Hematology Template:Phakomatoses and other congenital malformations not elsewhere classified
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- ↑ 1.0 1.1 Di Sabatino A, Carsetti R, Corazza GR (2011). "Post-splenectomy and hyposplenic states". Lancet. 378 (9785): 86–97. doi:10.1016/S0140-6736(10)61493-6. PMID 21474172.
- ↑ 2.0 2.1 MYERSON RM, KOELLE WA (1956). "Congenital absence of the spleen in an adult; report of a case associated with recurrent Waterhouse-Friderichsen syndrome". N Engl J Med. 254 (24): 1131–2. doi:10.1056/NEJM195606142542406. PMID 13322226.
- ↑ 3.0 3.1 Kirkineska L, Perifanis V, Vasiliadis T (2014). "Functional hyposplenism". Hippokratia. 18 (1): 7–11. PMC 4103047. PMID 25125944.
- ↑ "StatPearls". 2021. PMID 30844198.
- ↑ 5.0 5.1 Erdem SB, Genel F, Erdur B, Ozbek E, Gulez N, Mese T (2015). "Asplenia in children with congenital heart disease as a cause of poor outcome". Cent Eur J Immunol. 40 (2): 266–9. doi:10.5114/ceji.2015.52841. PMC 4637402. PMID 26557043.
- ↑ Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I (2016). "Ivemark Syndrome". J Assoc Physicians India. 64 (5): 73–75. PMID 27735157.
- ↑ Bolze A (2014). "[Connecting isolated congenital asplenia to the ribosome]". Biol Aujourdhui. 208 (4): 289–98. doi:10.1051/jbio/2015001. PMID 25840456.
- ↑ Ahmed SA, Zengeya S, Kini U, Pollard AJ (2010). "Familial isolated congenital asplenia: case report and literature review". Eur J Pediatr. 169 (3): 315–8. doi:10.1007/s00431-009-1030-0. PMID 19618213.