Dysfibrinogenemia

Common Name(s)

Dysfibrinogenemia

Dysfibrinogenemia is a rare coagulation disorder caused by a mutation in the gene controlling the production of fibrinogen in the liver. It causes the liver to make an abnormal fibrinogen, one that resists degradation when converted to fibrin.  Dysfibrinogenemia may increase a person's risk of venous thrombosis or rarely cause a mild bleeding tendency. PT, PTT, and Thrombin Time tests are used to screen for this condition, which is then confirmed with additional specialized blood tests. Patients with dysfibrinogenemia may experience poor wound healing. Hereditary transmission is autosomal dominant or codominant except in a few cases that appear to be transmitted recessively.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Dysfibrinogenemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Dysfibrinogenemia" returned 20 free, full-text research articles on human participants. First 3 results:

[Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain].
 

Author(s): Lin-lin Jiang, Xue-feng Wang, Qiu-lan Ding, Guan-qun Xu, Li-wei Zhang, Jing Dai, Ye-ling Lu, Xiao-dong Xi, Hong-li Wang

Journal: Zhonghua Xue Ye Xue Za Zhi. 2012 Jun;33(6):475-9.

 

To analyze the phenotype, genotype and function in four Chinese pedigrees with inherited dysfibrinogenemia.

Last Updated: 12 Sep 2012

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[Analysis of phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia].
 

Author(s): Qi Ouyang, Qiu-lan Ding, Dan-dan Huang, Guan-qun Xu, Li-wei Zhang, Jing Dai, Ye-ling Lu, Xue-feng Wang, Xiao-dong Xi, Hong-li Wang

Journal: Zhonghua Xue Ye Xue Za Zhi. 2011 Mar;32(3):153-7.

 

To analyze the phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia.

Last Updated: 3 May 2011

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[Dysfibrinogenemia and thrombosis. A case report].
 

Author(s): Imen Kraiem, Sami Guermazi, Héla Ben Abid, Balkis Meddeb

Journal: Tunis Med. 2010 Oct;88(10):757-60.

 

Congenital dysfibrinogenemia is a functional disorder of the fibrinogen that represents a rare cause of thrombophilia.

Last Updated: 4 Oct 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Dysfibrinogenemia" returned 2 free, full-text review articles on human participants. First 3 results:

Acquired dysfibrinogenemia in atherosclerotic vascular disease.
 

Author(s): Anetta Undas

Journal: Pol. Arch. Med. Wewn.. 2011 Sep;121(9):310-9.

 

Acquired qualitative abnormalities of fibrinogen molecules, termed acquired dysfibrinogenemia, have been demonstrated in several disease states mostly related to prothrombotic tendency, including multiple myeloma and liver disease. Fibrin is abundant in atherosclerotic plaques. Altered ...

Last Updated: 28 Sep 2011

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Digital ischemia and gangrene due to red blood cell aggregation induced by acquired dysfibrinogenemia.
 

Author(s): H C Kwaan, M Levin, S Sakurai, O Kucuk, M W Rooney, L J Lis, J W Kauffman

Journal: J. Vasc. Surg.. 1997 Dec;26(6):1061-8.

 

Digital gangrene was observed in a patient who had angiographic findings of digital arterial occlusion. The patient's blood showed a marked red blood cell aggregation with rouleaux formation in long chains, which could not be dispersed at shear rates up to 200 sec-1. Studies of the ...

Last Updated: 21 Jan 1998

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.