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. 2022 Jul 26;6(14):4297-4300.
doi: 10.1182/bloodadvances.2022006992.

Pediatric patient with fibrinogen Villeurbanne II presenting with an unprovoked portal vein thrombosis

Brenton J Francisco  1 , Bal Krishan Sharma  2 , Hannah M Russell  3 , Leah Rosenfeldt  2 , A Phillip Owens  3   4 , Matthew J Flick  5 , Eric S Mullins  2 , Joseph Palumbo  1
Affiliations

Pediatric patient with fibrinogen Villeurbanne II presenting with an unprovoked portal vein thrombosis

Brenton J Francisco et al. Blood Adv. .
No abstract available

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Figures

Figure 1.
Figure 1.
Fibrinogen Villeurbanne II forms abnormal-appearing polymer. Shown are SEM micrographs taken at the same magnification of fibrin clots produced from a 1.77-mg/mL fibrinogen solution purified from plasma obtained from a healthy donor (A) and the patient (B). Size bars, 20 μm. The patient’s fibrin clot was poorly formed, consisting of long, thin fibers with little bundling and irregularly spaced branch points. (C) Quantitative analyses of a 40-μm × 40-μm section of the micrograph show that the patient’s fibrils are significantly thinner than the control. The data represent the mean and SEM. The P value was generated using a Mann-Whitney U test. (D) Shown are the results of a turbidimetric fibrinolytic assay performed using the patient’s and control (normal) plasma. OD, optical density.
Figure 2.
Figure 2.
Fibrinogen Villeurbanne II forms aggregates with albumin in plasma. (A) The patient’s fibrinogen and fibrinogen from a healthy control appeared similar when blotted under reducing and nonreducing conditions. (B) Western blot analyses of fibrinogen coimmunoprecipitation demonstrating an interaction between the patient’s fibrinogen and albumin (at 66 kDa; arrow) that was not observed in fibrinogen from a healthy control, suggesting that the mutant fibrinogen forms aggregates with albumin. IgG, immunoglobulin G.
See this image and copyright information in PMC

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