Mesenteric venous thrombosis in a 40-year-old man with homozygous factor II G20210A mutation

Bauduer, Frédéric; Claracq, M; Orgogozo, F; Mariescu, M; Ducout, Louis; Freyburger, G.

doi:10.1097/00001721-200012000-00014

Cited by 6 publications

(2 citation statements)

References 6 publications

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“…Electrocardiogram showed sinus tachycardia, S1Q3T3, incomplete RBBB, right heart strain pattern evidenced by T wave inversions in V1-V3 as seen in Figure 1. Lab studies were as follows: Hb 15 g/dl (normal range 14-18 g/dl), platelets 190,000/ ul (normal range 130-400 x 10^3), troponin I 1.15 ng/ml (normal range < 0.5), Cr 1 mg/dl (0.5-1.2 mg/dl), BNP < 15 pg/ml (normal range <100), D-dimer (DDU) > 5000 ng/ml (normal range < 230), PT/INR 15.7/1.3 (PT normal range 12.6-14.6), PTT 30s (normal range [23][24][25][26][27][28][29][30][31][32][33][34][35][36][37][38]. Chest x-ray was unremarkable, as seen in Figure 2.…”

Section: Case Presentationmentioning

confidence: 99%

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Elkattawy

Alyacoub

Singh

et al. 2022

Journal of Investigative Medicine High Impact Case Reports

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Inherited thrombophilia is an important cause of venous thrombosis. The Factor V Leiden (FVL) is the most commonly encountered mutation, followed by the prothrombin G20210A gene mutation (PTM). The typical venous thrombotic events (VTEs) associated with PTM mutations are deep vein thrombosis (DVT) and pulmonary embolisms (PE). The PTM is inherited in an autosomal dominant pattern with variable penetrance. While heterozygous PTM mutations are more frequent and well documented in the literature, rare cases of homozygous PTM mutations are also reported. In this report, we discuss a 56-year-old male with a past medical history of homozygous prothrombin gene mutation (G20210A) who presented with an unprovoked DVT of the right lower extremity involving both the proximal and distal veins associated with multiple bilateral PEs. This case is unique in terms of the homozygous PTM inheritance, the age at which the patient presented (usually presentation is earlier in life), and the fact that he had a recurrence of both DVT and PE simultaneously.

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Section: Case Presentationmentioning

confidence: 99%

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Elkattawy

Alyacoub

Singh

et al. 2022

Journal of Investigative Medicine High Impact Case Reports

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“…[10][11][12] But recently, several homozygous carriers have been reported to present severe or unusual vein thrombosis. [13][14][15][16] In addition, cerebral venous sinus thrombosis in a neonate, 17 18-year-old woman with thrombosis during pregnancy, 18 recurrent pulmonary embolism in a 13-year-old patient, 19 and bilateral iliac vein thrombosis in an 19-year-old patient 20 were described. Arterial thrombosis in homozygous prothrombin G20210A mutation was reported in a 3-year-old patient with arterial stroke, 21 and a 44-year-old patient with retinal artery thrombosis.…”

Section: Mutation and Thrombosis Riskmentioning

confidence: 99%

Bilateral Superficial Femoral Artery Thrombosis in a 15-Year-Old Caucasian Male with Homozygous Prothrombin G20210A Genotype and Associated Antiphospholipid Syndrome

Yoon¹,

Kwok

Flessenkaemper

2015

Int J Angiol

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Assessment of the 20210 G to A prothrombin variant in a sample of patients from the French Basque Country with various thrombophilic conditions

Bauduer

Ducout

Freyburger

2003

Annals of Hematology

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We investigated the distribution of the prothrombin variant G20210A (PT20210A) in a sample of 103 patients (mean age: 34.5 years) living in the French Basque Country and presenting with conditions known to be significantly associated with this peculiar mutation according to a literature review. These patients suffered from repeated personal or familial venous thromboses, stroke at young age, or repetitive maternal-fetal disorders (abortions, preeclampsia, fetal growth retardation). Five patients (4.8%) were found to be carriers: two homozygotes and three heterozygotes (one also heterozygote for factor V Leiden). Of note, two presented with mesenteric venous thrombosis. The distribution of PT20210A among our sample was comparable to data from Western European series albeit a tendency for lower mutation prevalence was observed in our subgroup with obstetrical disorders. In addition, no significant difference in PT20210A frequency was evidenced between autochthonous Basques and individuals from other origins.

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Mesenteric venous thrombosis in a 40-year-old man with homozygous factor II G20210A mutation

Cited by 6 publications

References 6 publications

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Prothrombin G20210A Gene Mutation-Induced Recurrent Deep Vein Thrombosis and Pulmonary Embolism: Case Report and Literature Review

Bilateral Superficial Femoral Artery Thrombosis in a 15-Year-Old Caucasian Male with Homozygous Prothrombin G20210A Genotype and Associated Antiphospholipid Syndrome

Assessment of the 20210 G to A prothrombin variant in a sample of patients from the French Basque Country with various thrombophilic conditions

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