Abstract |
Dysfibrogenemias are characterized by the production of abnormally functioning fibrinogen, occurring in the presence of liver disease, medication toxicity, malignancy, or genetic mutation. Here, we report a patient with multiple, separate episodes of hepatic portal system thromboses associated with dysfibrinogenemia. Molecular studies identified the presence of a 554Arg→Cys mutation in the fibrinogen Aα gene, previously identified as Fibrinogen Dusart (also known as Fibrinogen Paris V and Fibrinogen Chapel Hill). This case further illustrates the association of this dysfibrinogenemia with a unique thrombophilic manifestation.
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Authors | Yu-Min Shen, Vinh Trang, Ravi Sarode, Stephen Brennan |
Journal | Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
(Blood Coagul Fibrinolysis)
Vol. 25
Issue 4
Pg. 392-4
(Jun 2014)
ISSN: 1473-5733 [Electronic] England |
PMID | 24384913
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- fibrinogen Aalpha
- Fibrinogen
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Topics |
- Adult
- Afibrinogenemia
(blood, diagnosis, genetics)
- Diagnosis, Differential
- Fibrinogen
(genetics)
- Hepatitis C
(blood, genetics)
- Humans
- Male
- Portal System
(physiopathology)
- Thrombosis
(blood, diagnosis, genetics)
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