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Anasarca

MedGen UID:
101794
Concept ID:
C0151603
Pathologic Function
Synonyms: Extreme generalised oedema; Extreme generalized edema; Generalized edema
SNOMED CT: Anasarca (442433009); Anasarca (16740003); Generalized edema (16740003)
 
HPO: HP:0012050

Definition

An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. [from HPO]

Term Hierarchy

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

Conditions with this feature

Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
Action myoclonus-renal failure syndrome
MedGen UID:
155629
Concept ID:
C0751779
Disease or Syndrome
The action myoclonus-renal failure syndrome, also known as progressive myclonic epilepsy-4 with or without renal failure (EPM4), is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Lethal congenital glycogen storage disease of heart
MedGen UID:
337919
Concept ID:
C1849813
Disease or Syndrome
A rare glycogen storage disease with fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys and skeletal muscle involvement have been reported in some cases.
Cryoglobulinemic vasculitis
MedGen UID:
343814
Concept ID:
C1852456
Disease or Syndrome
A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.
Diarrhea 10, protein-losing enteropathy type
MedGen UID:
1648311
Concept ID:
C4748579
Disease or Syndrome
Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Rajab interstitial lung disease with brain calcifications 1
MedGen UID:
1750003
Concept ID:
C5436276
Disease or Syndrome
Rajab interstitial lung disease with brain calcifications-1 (RILCBC1) is an autosomal recessive multisystem disorder with a highly variable phenotype. Most patients present in infancy or early childhood with poor growth and interstitial lung disease, which may lead to death. Some may also have liver, skeletal, and renal abnormalities, and most have intracranial calcifications on brain imaging. Some may have early impaired motor development, but most have normal cognitive development (summary by Xu et al., 2018). Genetic Heterogeneity of Rajab Interstitial Lung Disease with Brain Calcifications Also see Rajab interstitial disease with brain calcifications-2 (RILDBC2; 619013), caused by mutation in the FARSA gene (602918).
Immunodeficiency 87 and autoimmunity
MedGen UID:
1794280
Concept ID:
C5562070
Disease or Syndrome
Immunodeficiency-87 and autoimmunity (IMD87) is an autosomal recessive immunologic disorder with wide phenotypic variation and severity. Affected individuals usually present in infancy or early childhood with increased susceptibility to infections, often Epstein-Barr virus (EBV), as well as with lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. Laboratory studies may show low or normal lymphocyte numbers, often with skewed T-cell subset ratios. The disorder results primarily from defects in T-cell function, which causes both immunodeficiency and overall immune dysregulation (summary by Serwas et al., 2019 and Fournier et al., 2021).

Professional guidelines

PubMed

Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Hampson KJ, Gay ML, Band ME
Nutr Clin Pract 2021 Apr;36(2):331-343. Epub 2021 Jan 19 doi: 10.1002/ncp.10622. PMID: 33469930
Kallash M, Mahan JD
Pediatr Nephrol 2021 Jul;36(7):1719-1730. Epub 2020 Nov 20 doi: 10.1007/s00467-020-04779-x. PMID: 33216218

Recent clinical studies

Etiology

Pitot MA, Tahboub Amawi AD, Alexander LF, LeGout JD, Walkoff L, Navin PJ, Kawashima A, Wood AJ, Dispenzieri A, Venkatesh SK
Radiographics 2023 Aug;43(8):e220210. doi: 10.1148/rg.220210. PMID: 37471247
Mattoo TK, Sanjad S
Pediatr Clin North Am 2022 Dec;69(6):1079-1098. Epub 2022 Oct 29 doi: 10.1016/j.pcl.2022.08.002. PMID: 36880923
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Liu AY, Nabel CS, Finkelman BS, Ruth JR, Kurzrock R, van Rhee F, Krymskaya VP, Kelleher D, Rubenstein AH, Fajgenbaum DC
Lancet Haematol 2016 Apr;3(4):e163-75. Epub 2016 Mar 17 doi: 10.1016/S2352-3026(16)00006-5. PMID: 27063975
Clark AL, Cleland JG
Nat Rev Cardiol 2013 Mar;10(3):156-70. Epub 2013 Jan 15 doi: 10.1038/nrcardio.2012.191. PMID: 23319101

Diagnosis

Mattoo TK, Sanjad S
Pediatr Clin North Am 2022 Dec;69(6):1079-1098. Epub 2022 Oct 29 doi: 10.1016/j.pcl.2022.08.002. PMID: 36880923
Masaki Y, Arita K, Sakai T, Takai K, Aoki S, Kawabata H
Ann Hematol 2022 Mar;101(3):485-490. Epub 2022 Jan 19 doi: 10.1007/s00277-022-04762-6. PMID: 35044513Free PMC Article
Kallash M, Mahan JD
Pediatr Nephrol 2021 Jul;36(7):1719-1730. Epub 2020 Nov 20 doi: 10.1007/s00467-020-04779-x. PMID: 33216218
Igawa T, Sato Y
Hematol Oncol Clin North Am 2018 Feb;32(1):107-118. doi: 10.1016/j.hoc.2017.09.009. PMID: 29157612
Liu AY, Nabel CS, Finkelman BS, Ruth JR, Kurzrock R, van Rhee F, Krymskaya VP, Kelleher D, Rubenstein AH, Fajgenbaum DC
Lancet Haematol 2016 Apr;3(4):e163-75. Epub 2016 Mar 17 doi: 10.1016/S2352-3026(16)00006-5. PMID: 27063975

Therapy

Wu X, Zhang X, Qian S, Shi C, Li X, Feng X, Zhu L, Ge J, Li Z, Zhang M
Ann Hematol 2023 Dec;102(12):3515-3520. Epub 2023 Sep 15 doi: 10.1007/s00277-023-05435-8. PMID: 37713125
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Fajgenbaum DC
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):318-325. doi: 10.1182/asheducation-2018.1.318. PMID: 30504327Free PMC Article
Fajgenbaum DC
Blood 2018 Nov 29;132(22):2323-2330. doi: 10.1182/blood-2018-05-848671. PMID: 30487129Free PMC Article
Spinella PC, Perkins JG, Cap AP
US Army Med Dep J 2016 Apr-Sep;(2-16):37-42. PMID: 27215864

Prognosis

Pitot MA, Tahboub Amawi AD, Alexander LF, LeGout JD, Walkoff L, Navin PJ, Kawashima A, Wood AJ, Dispenzieri A, Venkatesh SK
Radiographics 2023 Aug;43(8):e220210. doi: 10.1148/rg.220210. PMID: 37471247
Igawa T, Sato Y
Hematol Oncol Clin North Am 2018 Feb;32(1):107-118. doi: 10.1016/j.hoc.2017.09.009. PMID: 29157612
Druey KM, Parikh SM
J Allergy Clin Immunol 2017 Sep;140(3):663-670. Epub 2016 Dec 22 doi: 10.1016/j.jaci.2016.10.042. PMID: 28012935Free PMC Article
Clark AL, Cleland JG
Nat Rev Cardiol 2013 Mar;10(3):156-70. Epub 2013 Jan 15 doi: 10.1038/nrcardio.2012.191. PMID: 23319101
Lui PC, Wong GK, Poon WS, Tse GM
J Clin Pathol 2003 Jun;56(6):468-70. doi: 10.1136/jcp.56.6.468. PMID: 12783976Free PMC Article

Clinical prediction guides

Pierson SK, Lim MS, Srkalovic G, Brandstadter JD, Sarmiento Bustamante M, Shyamsundar S, Mango N, Lavery C, Austin B, Alapat D, Lechowicz MJ, Bagg A, Li H, Casper C, van Rhee F, Fajgenbaum DC
Blood Adv 2023 Nov 14;7(21):6652-6664. doi: 10.1182/bloodadvances.2023010745. PMID: 37656441Free PMC Article
de Carvalho JF, Lerner A, Gonçalves CM, Shoenfeld Y
Clin Rheumatol 2021 Jun;40(6):2491-2497. Epub 2020 Nov 3 doi: 10.1007/s10067-020-05487-5. PMID: 33145631
Fajgenbaum DC
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):318-325. doi: 10.1182/asheducation-2018.1.318. PMID: 30504327Free PMC Article
Fajgenbaum DC
Blood 2018 Nov 29;132(22):2323-2330. doi: 10.1182/blood-2018-05-848671. PMID: 30487129Free PMC Article
Liu AY, Nabel CS, Finkelman BS, Ruth JR, Kurzrock R, van Rhee F, Krymskaya VP, Kelleher D, Rubenstein AH, Fajgenbaum DC
Lancet Haematol 2016 Apr;3(4):e163-75. Epub 2016 Mar 17 doi: 10.1016/S2352-3026(16)00006-5. PMID: 27063975

Recent systematic reviews

Grange L, Chalayer E, Boutboul D, Paul S, Galicier L, Gramont B, Killian M
Autoimmun Rev 2022 Aug;21(8):103137. Epub 2022 Jul 6 doi: 10.1016/j.autrev.2022.103137. PMID: 35803499
Hedin E, Bijelić V, Barrowman N, Geier P
Pediatr Nephrol 2022 Aug;37(8):1747-1757. Epub 2022 Mar 3 doi: 10.1007/s00467-021-05358-4. PMID: 35239032
Belyaeva E, Rubenstein A, Pierson SK, Dalldorf D, Frank D, Lim MS, Fajgenbaum DC
Hematol Oncol 2022 Apr;40(2):191-201. Epub 2022 Feb 18 doi: 10.1002/hon.2969. PMID: 35104370Free PMC Article
Sakai K, Maeda T, Kuriyama A, Shimada N, Notohara K, Ueda Y
Mod Rheumatol 2018 May;28(3):564-569. Epub 2016 Feb 17 doi: 10.3109/14397595.2015.1120389. PMID: 26886414
Liu AY, Nabel CS, Finkelman BS, Ruth JR, Kurzrock R, van Rhee F, Krymskaya VP, Kelleher D, Rubenstein AH, Fajgenbaum DC
Lancet Haematol 2016 Apr;3(4):e163-75. Epub 2016 Mar 17 doi: 10.1016/S2352-3026(16)00006-5. PMID: 27063975

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