Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up

Figures

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  Fig. 1. A triphase abdomen computed tomographic revealed filling defect in the major portal vein (A) and a low-density area in splenic vein (B). Coronal reconstruction of the abdominal computed tomography exhibited a low-density area in superior mesenteric vein (C). After 2 years of anticoagulation treatment with oral dabigatran, a triphase abdomen computed tomographic demonstrated complete recanalization of the portal vein thrombosis (D) and coronal maximum intensity projection showed the formation of aberrant collateral vessels and partial recanalization of the splenic vein, superior mesenteric vein thrombosis (E). At admission, transverse (F) and sagittal (G) computed tomography pulmonary angiography demonstrated filling defect in the left pulmonary artery. Color Doppler ultrasound showed thrombosis in bilateral femoral vein and the left popliteal vein

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  Fig. 2. The T1-weighted magnetic resonance images (A), the T2-weighted magnetic resonance images (B) and CT images (C) demonstrate bilateral frontal hemorrhagic infarction. Axial (E) and coronal (F) contrast-enhanced T1-weighted magnetic resonance imaging demonstrate filling defect and a δ sign in the right transverse sinus, sigmoid sinus. The computed tomography angiography in brain is unremarkable except for hypoplasia of the left anterior cerebral artery A1 segment (D). The repeated T1-weighted magnetic resonance images (G) and the T2-weighted magnetic resonance images (H) reveal encephalomalacia in right frontal lobe after 2 years

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  Fig. 3. The brain magnetic resonance venography in 2017 reveals thrombosis involving right transverse sinus, right sigmoid sinus, superior sagittal sinus (A, B). The repeated magnetic resonance venography in 2019 demonstrates partial recanalization of right transverse sinus, right sigmoid sinus, superior sagittal sinus and the formation of aberrant collateral vessels (C, D)

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  Fig. 4. The heterozygous mutation in the SERPINC1 gene (c.233_236dup, p.Val80Alafs*26) was identified in the patient. The red arrow indicates the start of the frameshift duplication in the SERPINC1 gene (A). Sanger sequencing results of the TA cloned products (B). TA cloning and sanger sequencing were performed by Tsingke Biotechnology Co., Ltd. Chromas was used to analyze the sequencing results

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  Fig. 5. Part of the sequence (codons 75 to 110) for exon 2 of SERPINC1 gene and the corresponding translated amino acids. Normal sequence showing the wild-type nucleotide sequence and the corresponding translated amino acids. SERPINC1 coding region consists of 464 amino acids (A). Patient sequence showing the repeated nucleotides GGCG in codon 80 and the resulted premature stop-codon at codon 105 (B)