Format

Send to:

Choose Destination

Links from PubMed

Anasarca

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

Definition

A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition. [from NCI]

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
Pancreatitis is inflammation of the pancreas that progresses from acute (sudden onset; duration <6 months) to recurrent acute (>1 episode of acute pancreatitis) to chronic (duration >6 months). The range of symptoms and disease course vary from person to person. Familial pancreatitis, defined as pancreatitis from any cause that occurs in a family with an incidence that is greater than would be expected by chance alone, can be non-genetic or genetic, the latter including autosomal dominant hereditary pancreatitis and pancreatitis syndromes characterized by pancreatitis or pancreatic insufficiency. The majority of familial pancreatitis appears to have a complex, multigenic, or gene-environmental etiology with a variable number of germline pathogenic variants in genes that affect trypsin regulation, including CASR, CTRC, and CLDN2. Hereditary pancreatitis (HP) is defined as either two or more individuals with pancreatitis in two or more generations of a family (i.e., an autosomal dominant pattern of inheritance) or pancreatitis associated with a germline PRSS1 disease-causing gain-of-function variant. The phenotype of hereditary pancreatitis is increased susceptibility to acute pancreatitis, with complications such as chronic inflammation, fibrosis, and chronic pain in some affected individuals. Heterozygous pathogenic variants in PRSS1 are found in 60%-100% of families with hereditary pancreatitis, and most large families with pancreatitis spanning multiple generations; biallelic pathogenic variants in SPINK1 or biallelic pathogenic variants in CFTR result in autosomal recessive pancreatitis. Syndromes in which pancreatitis is a finding include: Pearson marrow pancreas syndrome, CEL maturity-onset diabetes of the young (CEL-MODY), and Johanson-Blizzard syndrome. Shwachman-Diamond syndrome, an autosomal recessive disorder, includes pancreatic exocrine insufficiency as well as other features. Idiopathic sporadic pancreatitis is a single occurrence of pancreatitis in a family for which no etiology is identified.
Pancreatic insufficiency, combined exocrine
MedGen UID:
340462
Concept ID:
C1850081
Disease or Syndrome
Cryoglobulinemia, familial mixed
MedGen UID:
343814
Concept ID:
C1852456
Disease or Syndrome

Recent clinical studies

Etiology

Nara M, Komatsuda A, Itoh F, Kaga H, Saitoh M, Togashi M, Kameoka Y, Wakui H, Takahashi N
Intern Med 2017;56(10):1247-1252. Epub 2017 May 15 doi: 10.2169/internalmedicine.56.7991. PMID: 28502946Free PMC Article
Sulentić P, Becejac B, Vinter O, Vrkljan M
Acta Clin Croat 2011 Sep;50(3):427-30. PMID: 22384781
Chandrakasan S, Singh S, Ratho RK, Kumar S, Mishra B
Rheumatol Int 2009 Mar;29(5):565-7. Epub 2008 Sep 20 doi: 10.1007/s00296-008-0702-9. PMID: 18807045
Ro PS, Hill SL, Cheatham JP
Catheter Cardiovasc Interv 2005 May;65(1):60-5. doi: 10.1002/ccd.20356. PMID: 15812809
Madias JE, Bazaz R, Agarwal H, Win M, Medepalli L
J Am Coll Cardiol 2001 Sep;38(3):756-64. PMID: 11527629

Diagnosis

Patil PD, Cua YM, Farver C, Perez RL, Mehta AC, Panchabhai TS
Chest 2017 Aug;152(2):e39-e44. doi: 10.1016/j.chest.2017.03.018. PMID: 28797399
Nara M, Komatsuda A, Itoh F, Kaga H, Saitoh M, Togashi M, Kameoka Y, Wakui H, Takahashi N
Intern Med 2017;56(10):1247-1252. Epub 2017 May 15 doi: 10.2169/internalmedicine.56.7991. PMID: 28502946Free PMC Article
Bernardes Filho F, Kac BK
Dermatol Online J 2016 Mar 16;22(3) PMID: 27136638
Kumabe A, Kenzaka T, Nishimura Y, Aikawa M, Mori M, Matsumura M
BMC Endocr Disord 2015 Mar 25;15:10. doi: 10.1186/s12902-015-0007-4. PMID: 25887623Free PMC Article
Bilgili SG, Yılmaz D, Soyoral YU, Karadag AS, Bayram I
Ren Fail 2013 Sep;35(8):1163-6. Epub 2013 Jul 26 doi: 10.3109/0886022X.2013.817277. PMID: 23885711

Therapy

Nara M, Komatsuda A, Itoh F, Kaga H, Saitoh M, Togashi M, Kameoka Y, Wakui H, Takahashi N
Intern Med 2017;56(10):1247-1252. Epub 2017 May 15 doi: 10.2169/internalmedicine.56.7991. PMID: 28502946Free PMC Article
Myers WT, Wintergerst KA, Kingery SE, Foster MB
Pediatr Rev 2016 Feb;37(2):81-2. doi: 10.1542/pir.2015-0088. PMID: 26834228
Inoue M, Ankou M, Hua J, Iwaki Y, Hagihara M, Ota Y
J Clin Exp Hematop 2013;53(1):95-9. PMID: 23801140
Bayraktar S, Bassini W, Goodman M
Acta Haematol 2010;123(2):121-5. doi: 10.1159/000272920. PMID: 20068284
Chandrakasan S, Singh S, Ratho RK, Kumar S, Mishra B
Rheumatol Int 2009 Mar;29(5):565-7. Epub 2008 Sep 20 doi: 10.1007/s00296-008-0702-9. PMID: 18807045

Prognosis

Kumabe A, Kenzaka T, Nishimura Y, Aikawa M, Mori M, Matsumura M
BMC Endocr Disord 2015 Mar 25;15:10. doi: 10.1186/s12902-015-0007-4. PMID: 25887623Free PMC Article
Hussain K, Shaikh NA, Thomas L, Marashi MM
BMJ Case Rep 2013 Nov 11;2013 doi: 10.1136/bcr-2013-201475. PMID: 24217929Free PMC Article
Iwaki N, Sato Y, Takata K, Kondo E, Ohno K, Takeuchi M, Orita Y, Nakao S, Yoshino T
J Clin Exp Hematop 2013;53(1):87-93. PMID: 23801139
Kawabata H, Takai K, Kojima M, Nakamura N, Aoki S, Nakamura S, Kinoshita T, Masaki Y
J Clin Exp Hematop 2013;53(1):57-61. PMID: 23801135
Chandrakasan S, Singh S, Ratho RK, Kumar S, Mishra B
Rheumatol Int 2009 Mar;29(5):565-7. Epub 2008 Sep 20 doi: 10.1007/s00296-008-0702-9. PMID: 18807045

Clinical prediction guides

Lo Gullo R, Mishra S, Lira DA, Padole A, Otrakji A, Khawaja RD, Pourjabbar S, Singh S, Shepard JA, Digumarthy SR, Kalra MK, Stone JR
Forensic Sci Med Pathol 2015 Dec;11(4):488-96. Epub 2015 Nov 5 doi: 10.1007/s12024-015-9728-y. PMID: 26541472
Berez PB
South Med J 2010 Feb;103(2):116-20. doi: 10.1097/SMJ.0b013e3181c98b82. PMID: 20065909
Madias JE
Pacing Clin Electrophysiol 2004 Jun;27(6 Pt 1):749-56. doi: 10.1111/j.1540-8159.2004.00523.x. PMID: 15189529
de Denus S, Spinler SA
Ann Pharmacother 2003 Sep;37(9):1237-40. doi: 10.1345/aph.1C493. PMID: 12921506
Madias JE, Bazaz R, Agarwal H, Win M, Medepalli L
J Am Coll Cardiol 2001 Sep;38(3):756-64. PMID: 11527629

Recent systematic reviews

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
Fleischer AC, Killam AP, Boehm FH, Hutchison AA, Jones TB, Shaff MI, Barrett JM, Lindsey AM, James AE Jr
Radiology 1981 Oct;141(1):163-8. doi: 10.1148/radiology.141.1.7291521. PMID: 7291521

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    PubMed Health

    Medical Encyclopedia

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center