title: Fibrinogen Dusart presenting as recurrent thromboses in the hepatic portal system.
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.
authors.affiliation: aDepartment of Internal Medicine bDepartment of Pathology, University of Texas Southwestern Medical Center, Dallas, USA cMolecular Pathology Laboratory, University of Otago, Christchurch, New Zealand.
authors.forename: Yu-Min
authors.initials: YM
authors.lastname: Shen
authors.forename: Vinh
authors.initials: V
authors.lastname: Trang
authors.forename: Ravi
authors.initials: R
authors.lastname: Sarode
authors.forename: Stephen
authors.initials: S
authors.lastname: Brennan
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005340:Fibrinogen / Q000235:genetics; D006526:Hepatitis C / Q000097:blood / Q000235:genetics; D006801:Humans; D008297:Male; D011168:Portal System / Q000503:physiopathology*; D013927:Thrombosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
chemical_list: C464794:fibrinogen Aalpha; D005340:Fibrinogen