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Hyperfibrinogenemia

MedGen UID:
488952
Concept ID:
C0919890
Disease or Syndrome; Finding
SNOMED CT: Hyperfibrinogenemia (439000005)
 
HPO: HP:0011899

Definition

Increased concentration of fibrinogen in the blood. [from HPO]

Conditions with this feature

Leukocyte adhesion deficiency 1
MedGen UID:
98310
Concept ID:
C0398738
Disease or Syndrome
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression. Genetic Heterogeneity of Leukocyte Adhesion Deficiency Also see LAD2 (266265), caused by mutation in the SLC35C1 gene (605881), and LAD3 (612840), caused by mutation in the FERMT3 gene (607901).

Professional guidelines

PubMed

Román GC
Panminerva Med 2004 Dec;46(4):207-15. PMID: 15876977
Román GC
Med Clin North Am 2002 May;86(3):477-99. doi: 10.1016/s0025-7125(02)00008-1. PMID: 12168556
Taylor SH
Am J Cardiol 1987 May 29;59(14):2G-8G. doi: 10.1016/0002-9149(87)90151-2. PMID: 3296720

Recent clinical studies

Etiology

Narayan S, Chandrasekaran A, Basu D, Hanumanthappa N, Aghoram R, Dutta TK, Rejul V
J Appl Lab Med 2021 Jan 12;6(1):101-112. doi: 10.1093/jalm/jfaa198. PMID: 33313850
Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919Free PMC Article
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
Kawai K, Watanabe T
Surg Today 2014 May;44(5):797-803. Epub 2013 May 14 doi: 10.1007/s00595-013-0606-5. PMID: 23670036
Franchini M, Veneri D
Clin Lab 2005;51(7-8):357-65. PMID: 16122145

Diagnosis

Wu Z, Zhao L, Feng S, Luo J
Int J Colorectal Dis 2023 Mar 17;38(1):72. doi: 10.1007/s00384-023-04362-4. PMID: 36930335
Gürsoy B, Sürmeli CD, Alkan M, Satıcı C, Altunok ES, Kamat S, Demirok B, Demirkol MA, Börü A
J Med Virol 2021 Sep;93(9):5474-5480. Epub 2021 May 15 doi: 10.1002/jmv.27068. PMID: 33963559Free PMC Article
Chen EC, Zon RL, Battinelli EM, Connors JM
Oncologist 2020 Oct;25(10):e1500-e1508. Epub 2020 Aug 31 doi: 10.1634/theoncologist.2020-0682. PMID: 32881209Free PMC Article
You S, Yin X, Liu H, Zheng D, Zhong C, Du H, Zhang Y, Zhao H, Qiu C, Fan L, Pei S, Ma Z, Cao Y, Liu CF
Curr Neurovasc Res 2017;14(3):242-249. doi: 10.2174/1567202614666170621103604. PMID: 28637414
Suzuki T, Shimada H, Nanami T, Oshima Y, Yajima S, Ito M, Washizawa N, Kaneko H
Surg Today 2016 Dec;46(12):1394-1401. Epub 2016 May 9 doi: 10.1007/s00595-016-1339-z. PMID: 27160890

Therapy

van Rhee F, Rosenthal A, Kanhai K, Martin R, Nishimura K, Hoering A, Fajgenbaum DC
Blood Adv 2022 Aug 23;6(16):4773-4781. doi: 10.1182/bloodadvances.2022007112. PMID: 35793409Free PMC Article
Chen EC, Zon RL, Battinelli EM, Connors JM
Oncologist 2020 Oct;25(10):e1500-e1508. Epub 2020 Aug 31 doi: 10.1634/theoncologist.2020-0682. PMID: 32881209Free PMC Article
Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919Free PMC Article
Clark VD, Layson A, Charkviani M, Muradashvili N, Lominadze D
Brain Res 2018 Nov 15;1699:158-165. Epub 2018 Aug 25 doi: 10.1016/j.brainres.2018.08.023. PMID: 30153459Free PMC Article
Kawai K, Watanabe T
Surg Today 2014 May;44(5):797-803. Epub 2013 May 14 doi: 10.1007/s00595-013-0606-5. PMID: 23670036

Prognosis

Bryk-Wiązania AH, Undas A
Cardiovasc Diabetol 2021 Sep 22;20(1):191. doi: 10.1186/s12933-021-01372-w. PMID: 34551784Free PMC Article
Gürsoy B, Sürmeli CD, Alkan M, Satıcı C, Altunok ES, Kamat S, Demirok B, Demirkol MA, Börü A
J Med Virol 2021 Sep;93(9):5474-5480. Epub 2021 May 15 doi: 10.1002/jmv.27068. PMID: 33963559Free PMC Article
Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919Free PMC Article
Suzuki T, Shimada H, Nanami T, Oshima Y, Yajima S, Ito M, Washizawa N, Kaneko H
Surg Today 2016 Dec;46(12):1394-1401. Epub 2016 May 9 doi: 10.1007/s00595-016-1339-z. PMID: 27160890
Kawai K, Watanabe T
Surg Today 2014 May;44(5):797-803. Epub 2013 May 14 doi: 10.1007/s00595-013-0606-5. PMID: 23670036

Clinical prediction guides

Bryk-Wiązania AH, Undas A
Cardiovasc Diabetol 2021 Sep 22;20(1):191. doi: 10.1186/s12933-021-01372-w. PMID: 34551784Free PMC Article
Warkentin TE, Kaatz S
Thromb Res 2020 Dec;196:38-51. Epub 2020 Aug 10 doi: 10.1016/j.thromres.2020.08.017. PMID: 32841919Free PMC Article
Clark VD, Layson A, Charkviani M, Muradashvili N, Lominadze D
Brain Res 2018 Nov 15;1699:158-165. Epub 2018 Aug 25 doi: 10.1016/j.brainres.2018.08.023. PMID: 30153459Free PMC Article
Feng Z, Wen H, Bi R, Duan Y, Yang W, Wu X
BMC Cancer 2016 Jan 27;16:43. doi: 10.1186/s12885-016-2070-2. PMID: 26817451Free PMC Article
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

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