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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

Wang C, Cui T, Li S, Wang T, Cui J, Zhong L, Jiang S, Zhu Q, Chen M, Yang Y, Wang A, Zhang X, Shang W, Hao Z, Wu B
Neurocrit Care 2024 Apr;40(2):506-514. Epub 2023 Jun 14 doi: 10.1007/s12028-023-01768-4. PMID: 37316678
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
Taylor SH
Am J Cardiol 1987 May 29;59(14):2G-8G. doi: 10.1016/0002-9149(87)90151-2. PMID: 3296720

Diagnosis

Poudyal BS, Poudel B, Tuladhar S, Rijal SS, Shrestha GS, Joshi U
J Nepal Health Res Counc 2023 Mar 10;20(3):794-796. doi: 10.33314/jnhrc.v20i3.4315. PMID: 36974876
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
Edwards JK, Sniecinski RM, Scott KJ
A A Pract 2019 Sep 15;13(6):211-214. doi: 10.1213/XAA.0000000000001034. PMID: 31162225
Mei F, Yu M, Li Y, Jin B, Ouyang C
Ann Vasc Surg 2014 Nov;28(8):1937.e13-7. Epub 2014 Aug 7 doi: 10.1016/j.avsg.2014.07.017. PMID: 25108094
Román GC
Panminerva Med 2004 Dec;46(4):207-15. PMID: 15876977

Therapy

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
Nielsen VG, Pearson EC, Smith MC
Artif Organs 2013 Nov;37(11):1008-14. Epub 2013 Jul 19 doi: 10.1111/aor.12122. PMID: 23865494
Román GC
Panminerva Med 2004 Dec;46(4):207-15. PMID: 15876977
Taylor SH
Am J Cardiol 1987 May 29;59(14):2G-8G. doi: 10.1016/0002-9149(87)90151-2. PMID: 3296720

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
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
Alkjaersig NK, Fletcher AP, Lewis ML, Cole BR, Ingelfinger JR, Robson AM
Kidney Int 1976 Oct;10(4):319-28. doi: 10.1038/ki.1976.115. PMID: 994377

Clinical prediction guides

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
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
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
Nielsen VG, Kirklin JK, Holman WL, Steenwyk BL, George JF, Zhou F, Parks DA, Ellis TC
ASAIO J 2008 Jul-Aug;54(4):351-8. doi: 10.1097/MAT.0b013e31817f3e03. PMID: 18645351

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