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Hypersplenism

MedGen UID:
9372
Concept ID:
C0020532
Disease or Syndrome
Synonyms: Big spleen syndrome; Hypersplenia; hypersplenia; hypersplenism; hypersplenism (disease)
SNOMED CT: Hypersplenism (58381000); Big spleen syndrome (58381000); Hypersplenia (58381000)
 
HPO: HP:0001971
Monarch Initiative: MONDO:0006795

Definition

A malfunctioning of the spleen in which it prematurely destroys red blood cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypersplenism

Conditions with this feature

Cholesteryl ester storage disease
MedGen UID:
40266
Concept ID:
C0008384
Disease or Syndrome
Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD; 620151) and cholesteryl ester storage disease (CESD). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).
Cholestasis-pigmentary retinopathy-cleft palate syndrome
MedGen UID:
208652
Concept ID:
C0795969
Disease or Syndrome
MED12-related disorders include the phenotypes of FG syndrome type 1 (FGS1), Lujan syndrome (LS), X-linked Ohdo syndrome (XLOS), Hardikar syndrome (HS), and nonspecific intellectual disability (NSID). FGS1 and LS share the clinical findings of cognitive impairment, hypotonia, and abnormalities of the corpus callosum. FGS1 is further characterized by absolute or relative macrocephaly, tall forehead, downslanted palpebral fissures, small and simple ears, constipation and/or anal anomalies, broad thumbs and halluces, and characteristic behavior. LS is further characterized by large head, tall thin body habitus, long thin face, prominent nasal bridge, high narrow palate, and short philtrum. Carrier females in families with FGS1 and LS are typically unaffected. XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. HS has been described in females with cleft lip and/or cleft palate, biliary and liver anomalies, intestinal malrotation, pigmentary retinopathy, and coarctation of the aorta. Developmental and cognitive concerns have not been reported in females with HS. Pathogenic variants in MED12 have been reported in an increasing number of males and females with NSID, with affected individuals often having clinical features identified in other MED12-related disorders.
Gaucher disease due to saposin C deficiency
MedGen UID:
350479
Concept ID:
C1864651
Disease or Syndrome
Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.
Splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
MedGen UID:
357126
Concept ID:
C1866744
Disease or Syndrome
Gaucher disease type I
MedGen UID:
409531
Concept ID:
C1961835
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
Syndromic multisystem autoimmune disease due to ITCH deficiency
MedGen UID:
461999
Concept ID:
C3150649
Disease or Syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.
Adams-Oliver syndrome 5
MedGen UID:
863407
Concept ID:
C4014970
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Hepatorenocardiac degenerative fibrosis
MedGen UID:
1808950
Concept ID:
C5676996
Disease or Syndrome
Hepatorenocardiac degenerative fibrosis (HRCDF) is a primarily fibrotic disease affecting the liver, kidney, and heart, with considerable variability in disease onset and expression. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with variable later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy (Devane et al., 2022).

Professional guidelines

PubMed

Kurniawan J, Sulaiman AS, Lesmana CRA, Bayupurnama P, Bestari MB, Akil F, Gani RA, Hasan I
Acta Med Indones 2022 Apr;54(2):324-346. PMID: 35818657
Grammatikopoulos T, McKiernan PJ, Dhawan A
Arch Dis Child 2018 Feb;103(2):186-191. Epub 2017 Aug 16 doi: 10.1136/archdischild-2015-310022. PMID: 28814423
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

Recent clinical studies

Etiology

Mart G, Malkan UY, Buyukasik Y
Medicine (Baltimore) 2022 Aug 19;101(33):e30116. doi: 10.1097/MD.0000000000030116. PMID: 35984149Free PMC Article
Juin Hsien BL, Shelat VG
Expert Rev Gastroenterol Hepatol 2021 Oct;15(10):1115-1141. Epub 2021 Jul 22 doi: 10.1080/17474124.2021.1945920. PMID: 34160346
Peck-Radosavljevic M
Liver Int 2017 Jun;37(6):778-793. Epub 2016 Dec 27 doi: 10.1111/liv.13317. PMID: 27860293
Jankulovski N, Antovic S, Kuzmanovska B, Mitevski A
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2014;35(1):181-7. PMID: 24798604
Hall AH
Toxicol Lett 2002 Mar 10;128(1-3):69-72. doi: 10.1016/s0378-4274(01)00534-3. PMID: 11869818

Diagnosis

Juin Hsien BL, Shelat VG
Expert Rev Gastroenterol Hepatol 2021 Oct;15(10):1115-1141. Epub 2021 Jul 22 doi: 10.1080/17474124.2021.1945920. PMID: 34160346
Kennedy P, Bane O, Hectors SJ, Fischman A, Schiano T, Lewis S, Taouli B
Abdom Radiol (NY) 2020 Nov;45(11):3473-3495. Epub 2020 Sep 14 doi: 10.1007/s00261-020-02729-7. PMID: 32926209Free PMC Article
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331
Shih AW, McFarlane A, Verhovsek M
Am J Hematol 2014 Apr;89(4):443-7. doi: 10.1002/ajh.23623. PMID: 24809098
Guggenbuhl P, Grosbois B, Chalès G
Joint Bone Spine 2008 Mar;75(2):116-24. Epub 2007 Aug 31 doi: 10.1016/j.jbspin.2007.06.006. PMID: 17996473

Therapy

Peck-Radosavljevic M
Liver Int 2017 Jun;37(6):778-793. Epub 2016 Dec 27 doi: 10.1111/liv.13317. PMID: 27860293
Dandana A, Ben Khelifa S, Chahed H, Miled A, Ferchichi S
Pathobiology 2016;83(1):13-23. Epub 2015 Nov 21 doi: 10.1159/000440865. PMID: 26588331
Sheehan VA, Weir A, Waters B
Curr Opin Hematol 2014 Jan;21(1):58-63. doi: 10.1097/MOH.0000000000000006. PMID: 24257097
Johnson DW, Pollock CA, Macdougall IC
Nephrology (Carlton) 2007 Aug;12(4):321-30. doi: 10.1111/j.1440-1797.2007.00810.x. PMID: 17635745
Hall AH
Toxicol Lett 2002 Mar 10;128(1-3):69-72. doi: 10.1016/s0378-4274(01)00534-3. PMID: 11869818

Prognosis

Yoshida H, Shimizu T, Yoshioka M, Matsushita A, Kawano Y, Ueda J, Kawashima M, Taniai N, Mamada Y
J Nippon Med Sch 2023;90(1):20-25. doi: 10.1272/jnms.JNMS.2023_90-104. PMID: 36908126
Sheehan VA, Weir A, Waters B
Curr Opin Hematol 2014 Jan;21(1):58-63. doi: 10.1097/MOH.0000000000000006. PMID: 24257097
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714
Wang JT, Zhao HY, Liu YL
Hepatobiliary Pancreat Dis Int 2005 Nov;4(4):515-8. PMID: 16286254
Schwartz SI
Ann Surg 1975 Oct;182(4):464-71. doi: 10.1097/00000658-197510000-00012. PMID: 1058648Free PMC Article

Clinical prediction guides

Lahari J, Usmani MH, Kapur KS, Shukla AK
J Assoc Physicians India 2022 Apr;70(4):11-12. PMID: 35443528
Duayer IF, Araújo MJCLN, Nihei CH, Barcelos MAF, Braga O, Britto ZML, Elias RM
J Bras Nefrol 2022 Jan-Mar;44(1):116-120. doi: 10.1590/2175-8239-JBN-2020-0109. PMID: 33657204Free PMC Article
Grammatikopoulos T, McKiernan PJ, Dhawan A
Arch Dis Child 2018 Feb;103(2):186-191. Epub 2017 Aug 16 doi: 10.1136/archdischild-2015-310022. PMID: 28814423
Kurokawa T, Ohkohchi N
World J Gastroenterol 2017 May 14;23(18):3228-3239. doi: 10.3748/wjg.v23.i18.3228. PMID: 28566882Free PMC Article
Kannourakis G
Semin Hematol 2002 Apr;39(2):103-6. doi: 10.1053/shem.2002.31920. PMID: 11957192

Recent systematic reviews

Huang Y, Ren D, Gao F, Ding Y, Cheng H, Huang X, Xu X
Minim Invasive Ther Allied Technol 2022 Jun;31(5):664-675. Epub 2021 Jun 9 doi: 10.1080/13645706.2021.1933535. PMID: 34106805
Wu Y, Li H, Zhang T, Bai Z, Xu X, Levi Sandri GB, Wang L, Qi X
Adv Ther 2021 Apr;38(4):1904-1930. Epub 2021 Mar 9 doi: 10.1007/s12325-021-01652-7. PMID: 33687650
Palaniappan SK, Than NN, Thein AW, van Mourik I
Cochrane Database Syst Rev 2020 Mar 30;3(3):CD012056. doi: 10.1002/14651858.CD012056.pub3. PMID: 32227478Free PMC Article
Talwar A, Gabr A, Riaz A, Desai K, Thornburg B, Mouli S, Lewandowski RJ, Salem R
J Vasc Interv Radiol 2020 Jul;31(7):1118-1131.e6. Epub 2020 Feb 1 doi: 10.1016/j.jvir.2019.08.015. PMID: 32014400
Palaniappan SK, Than NN, Thein AW, Moe S, van Mourik I
Cochrane Database Syst Rev 2017 Aug 29;8(8):CD012056. doi: 10.1002/14651858.CD012056.pub2. PMID: 28850173Free PMC Article

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