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Abnormality of circulating fibrinogen

MedGen UID:
868734
Concept ID:
C4023139
Anatomical Abnormality
HPO: HP:0011898

Definition

An abnormality of the level of activity of circulating fibrinogen. [from HPO]

Conditions with this feature

Ehlers-Danlos syndrome, classic-like, 3
MedGen UID:
1861383
Concept ID:
C5935631
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-3 (EDSCLL3) is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture (Hadar et al., 2024). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classificiation of Ehlers-Danlos syndrome, see EDSCL1 (130000).

Recent clinical studies

Etiology

John MJ, Byreddy P, Modak K, Makkar M
Acta Haematol 2021;144(6):595-602. Epub 2021 Jun 4 doi: 10.1159/000516339. PMID: 34091452
Moore EE, Moore HB, Kornblith LZ, Neal MD, Hoffman M, Mutch NJ, Schöchl H, Hunt BJ, Sauaia A
Nat Rev Dis Primers 2021 Apr 29;7(1):30. doi: 10.1038/s41572-021-00264-3. PMID: 33927200Free PMC Article
Manne BK, Denorme F, Middleton EA, Portier I, Rowley JW, Stubben C, Petrey AC, Tolley ND, Guo L, Cody M, Weyrich AS, Yost CC, Rondina MT, Campbell RA
Blood 2020 Sep 10;136(11):1317-1329. doi: 10.1182/blood.2020007214. PMID: 32573711Free PMC Article
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Hayes T
Arch Pathol Lab Med 2002 Nov;126(11):1387-90. doi: 10.5858/2002-126-1387-DAT. PMID: 12421146

Diagnosis

Moore EE, Moore HB, Kornblith LZ, Neal MD, Hoffman M, Mutch NJ, Schöchl H, Hunt BJ, Sauaia A
Nat Rev Dis Primers 2021 Apr 29;7(1):30. doi: 10.1038/s41572-021-00264-3. PMID: 33927200Free PMC Article
Asakura H, Ogawa H
Int J Hematol 2021 Jan;113(1):45-57. Epub 2020 Nov 7 doi: 10.1007/s12185-020-03029-y. PMID: 33161508Free PMC Article
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Sultan P, Seligman K, Carvalho B
Curr Opin Anaesthesiol 2016 Jun;29(3):288-96. doi: 10.1097/ACO.0000000000000328. PMID: 27153475
Amato L, Chiarini C, Berti S, Massi D, Fabbri P
Skinmed 2006 May-Jun;5(3):151-4. doi: 10.1111/j.1540-9740.2006.04541.x. PMID: 16687988

Therapy

John MJ, Byreddy P, Modak K, Makkar M
Acta Haematol 2021;144(6):595-602. Epub 2021 Jun 4 doi: 10.1159/000516339. PMID: 34091452
Asakura H, Ogawa H
Int J Hematol 2021 Jan;113(1):45-57. Epub 2020 Nov 7 doi: 10.1007/s12185-020-03029-y. PMID: 33161508Free PMC Article
Pham HP, Shaz BH
Br J Anaesth 2013 Dec;111 Suppl 1:i71-82. doi: 10.1093/bja/aet376. PMID: 24335401
Amato L, Chiarini C, Berti S, Massi D, Fabbri P
Skinmed 2006 May-Jun;5(3):151-4. doi: 10.1111/j.1540-9740.2006.04541.x. PMID: 16687988
Sallah S
Ann Hematol 1997 Jul-Aug;75(1-2):1-7. doi: 10.1007/s002770050305. PMID: 9322677

Prognosis

Zabielska P, Wieder-Huszla S, Karakiewicz B, Skonieczna-Żydecka K, Lubkowska A, Jurczak A
Exp Gerontol 2021 Jun;148:111278. Epub 2021 Feb 13 doi: 10.1016/j.exger.2021.111278. PMID: 33592278
Asakura H, Ogawa H
Int J Hematol 2021 Jan;113(1):45-57. Epub 2020 Nov 7 doi: 10.1007/s12185-020-03029-y. PMID: 33161508Free PMC Article
Manne BK, Denorme F, Middleton EA, Portier I, Rowley JW, Stubben C, Petrey AC, Tolley ND, Guo L, Cody M, Weyrich AS, Yost CC, Rondina MT, Campbell RA
Blood 2020 Sep 10;136(11):1317-1329. doi: 10.1182/blood.2020007214. PMID: 32573711Free PMC Article
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Sultan P, Seligman K, Carvalho B
Curr Opin Anaesthesiol 2016 Jun;29(3):288-96. doi: 10.1097/ACO.0000000000000328. PMID: 27153475

Clinical prediction guides

Zabielska P, Wieder-Huszla S, Karakiewicz B, Skonieczna-Żydecka K, Lubkowska A, Jurczak A
Exp Gerontol 2021 Jun;148:111278. Epub 2021 Feb 13 doi: 10.1016/j.exger.2021.111278. PMID: 33592278
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Aleman MM, Walton BL, Byrnes JR, Wolberg AS
Thromb Res 2014 May;133 Suppl 1(0 1):S38-40. doi: 10.1016/j.thromres.2014.03.017. PMID: 24759140Free PMC Article
Amato L, Chiarini C, Berti S, Massi D, Fabbri P
Skinmed 2006 May-Jun;5(3):151-4. doi: 10.1111/j.1540-9740.2006.04541.x. PMID: 16687988
Fruchtman S, Aledort LM
J Am Coll Cardiol 1986 Dec;8(6 Suppl B):159B-167B. doi: 10.1016/s0735-1097(86)80017-1. PMID: 3537068

Recent systematic reviews

Figliozzi S, Masci PG, Ahmadi N, Tondi L, Koutli E, Aimo A, Stamatelopoulos K, Dimopoulos MA, Caforio ALP, Georgiopoulos G
Eur J Clin Invest 2020 Oct;50(10):e13362. Epub 2020 Aug 27 doi: 10.1111/eci.13362. PMID: 32726868

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