Int J Angiol 2016; 25(05): e100-e105
DOI: 10.1055/s-0035-1548557
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

Uzung Yoon
1   Department of Surgery, Hofstra North Shore–Long Island Jewish School of Medicine, Manhasset, New York
,
LaiLai Kwok
2   Lincoln Memorial University, DeBusk College of Osteopathic Medicine, Harrogate, Tennessee
,
Ingo Flessenkaemper
3   Helios Klinikum Emil von Behring, Chairman of Vascular and Endovascular Surgery, Berlin, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
23 March 2015 (online)

Abstract

Prothrombin mutation was usually associated with other well-established predisposing factors for venous thrombosis such as antiphospholipid antibodies. Recently, even isolated prothrombin gene mutation G20210A has been reported to present severe or unusual vein thrombosis. Less clear is the role of prothrombin mutation in the formation of arterial thrombosis. We present a case of a 15-year-old healthy White male with acute bilateral femoral artery thrombosis. The patient presented with increasing left leg pain for about 1 week. He was a physically very active teenager with a new onset of leg pain aggravated by exercise. Physical examination revealed a pale and cold left foot with dorsal foot necrosis (2 × 2 cm) that started 2 days ago. In addition, he complained of moderate rest pain. No symptoms were noticed on the right lower extremity. The ankle brachial index was 0.3 on the left and 0.6 on the right. Duplex sonography showed bilateral superficial femoral artery thrombosis, which was confirmed by angiography. Subsequently, he undergoes left superficial femoral and popliteal artery lysis with rt-PA (Actilyse boehringer ingelheim, Ingelheim am Rhein, Germany) and full heparinization. Treatment was discontinued after 24 hours with no significant improvement of symptoms. Full anticoagulation with Coumadin (Bristol-Myers Squibb Company, New York, NY) and alprostadil (Prostavasin UCB, Brussels, Belgium) infusion for 2 weeks was initiated and eventually patient's symptoms improved. Laboratory testing revealed a homozygous prothrombin G20210A mutation and antiphospholipid syndrome. Homozygous prothrombin G20210A mutation in conjunction with antiphospholipid syndrome is a rare combination of coagulation disorder. Early intervention with full anticoagulation and subsequent lifelong anticoagulation should be considered in treatment strategy.

 
  • Reference

  • 1 Norgren L, Hiatt WR, Dormandy JA, Nehler MR, Harris KA, Fowkes FG ; TASC II Working Group. Inter-Society Consensus for the Management of Peripheral Arterial Disease (TASC II). J Vasc Surg 2007; 45 (Suppl S): S5-S67
  • 2 Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88 (10) 3698-3703
  • 3 Rosendaal FR, Doggen CJ, Zivelin A , et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79 (4) 706-708
  • 4 Nguyen A. Prothrombin G20210A polymorphism and thrombophilia. Mayo Clin Proc 2000; 75 (6) 595-604
  • 5 Souto JC, Coll I, Llobet D , et al. The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population. Thromb Haemost 1998; 80 (3) 366-369
  • 6 Campello E, Spiezia L, Radu CM , et al. Circulating microparticles in carriers of prothrombin G20210A mutation. Thromb Haemost 2014; 112 (3) 432-437
  • 7 Balian A, Veyradier A, Naveau S , et al. Prothrombin 20210G/A mutation in two patients with mesenteric ischemia. Dig Dis Sci 1999; 44 (9) 1910-1913
  • 8 Zuazu-Jausoro I, Sanchez I, Fernandez MC, Corral J, Gonzalez-Conejero R, Vicente V. Portal and mesenteric venous thrombosis in a patient heterozygous for the 20210 A allele of the prothrombin gene. Haematologica 1998; 83 (12) 1129-1130
  • 9 Hertzberg MS, Underwood T, Favaloro EJ. Mesenteric vein thrombosis secondary to combined protein C deficiency and double heterozygosity for factor V Leiden and prothrombin G20210A. Am J Hematol 1999; 62 (3) 199-200
  • 10 Girolami A, Simioni P, Tormene D, Scarano L. Two additional homozygous patients for the 20210 prothrombin polymorphism with no venous thrombosis. Thromb Res 1999; 96 (5) 415-417
  • 11 Martlew VJ, Perez-Casal M, Alfirevic Z, Toh CH. What clinical significance has the presence of the homozygous G20210A prothrombin gene mutation in a healthy woman?. Thromb Haemost 2000; 84 (2) 355-356
  • 12 Alatri A, Franchi F, Moia M. Homozygous G20210A prothrombin gene mutation without thromboembolic events: a case report. Thromb Haemost 1998; 80 (6) 1028-1029
  • 13 González Ordóñez AJ, Medina Rodriguez JM, Fernández Alvarez CR, Macias Robles MD, Coto García E. A patient homozygous for mutation 20210A in the prothrombin gene with venous thrombosis and transient ischemic attacks of thrombotic origin. Haematologica 1998; 83 (11) 1050-1051
  • 14 Zawadzki C, Gaveriaux V, Trillot N , et al. Homozygous G20210A transition in the prothrombin gene associated with severe venous thrombotic disease: two cases in a French family. Thromb Haemost 1998; 80 (6) 1027-1028
  • 15 Bauduer F, Claracq M, Orgogozo F, Mariescu M, Ducout L, Freyburger G. Mesenteric venous thrombosis in a 40-year-old man with homozygous factor II G20210A mutation. Blood Coagul Fibrinolysis 2000; 11 (8) 785-786
  • 16 Eikelboom JW, Ivey L, Ivey J, Baker RI. Familial thrombophilia and the prothrombin 20210A mutation: association with increased thrombin generation and unusual thrombosis. Blood Coagul Fibrinolysis 1999; 10 (1) 1-5
  • 17 Klein L, Bhardwaj V, Gebara B. Cerebral venous sinus thrombosis in a neonate with homozygous prothrombin G20210A genotype. J Perinatol 2004; 24 (12) 797-799
  • 18 Scott CM, Hanley JP, Ludlam CA, Stirling D. Homozygosity for a factor II polymorphism associated with thrombosis during pregnancy. [abstract] Thromb Haemost 1997; 77: 770
  • 19 Kosch A, Junker R, Wermes C, Nowak-Göttl U. Recurrent pulmonary embolism in a 13-year-old male homozygous for the prothrombin G20210A mutation combined with protein S deficiency and increased lipoprotein (a). Thromb Res 2002; 105 (1) 49-53
  • 20 Vayá A, García M, Mira Y , et al. Homozygous 20210G/A prothrombin gene mutation associated with bilateral iliac vein thrombosis: a case report. Thromb Res 2001; 104 (4) 293-296
  • 21 Young G, Manco-Johnson M, Gill JC , et al. Clinical manifestations of the prothrombin G20210A mutation in children: a pediatric coagulation consortium study. J Thromb Haemost 2003; 1 (5) 958-962
  • 22 Kling F, Macarez R, Robinet A, Kouassi FX, Colin J. [Mixed retinal thrombosis in a patient carrying prothrombin gene mutation in a homozygote state]. J Fr Ophtalmol 1999; 22 (9) 979-981
  • 23 Berridge DC, Kessel DO, Robertson I. Surgery versus thrombolysis for initial management of acute limb ischaemia. Cochrane Database Syst Rev 2013; 6: CD002784
  • 24 Taha AG, Byrne RM, Avgerinos ED, Marone LK, Makaroun MS, Chaer RA. Comparative effectiveness of endovascular versus surgical revascularization for acute lower extremity ischemia. J Vasc Surg 2015; 61 (1) 147-154
  • 25 Karnabatidis D, Spiliopoulos S, Tsetis D, Siablis D. Quality improvement guidelines for percutaneous catheter-directed intra-arterial thrombolysis and mechanical thrombectomy for acute lower-limb ischemia. Cardiovasc Intervent Radiol 2011; 34 (6) 1123-1136
  • 26 Doomernik DE, Schrijver AM, Zeebregts CJ, de Vries JP, Reijnen MM. Advancements in catheter-directed ultrasound-accelerated thrombolysis. J Endovasc Ther 2011; 18 (3) 418-434
  • 27 Rutherford RB, Baker JD, Ernst C , et al. Recommended standards for reports dealing with lower extremity ischemia: revised version. J Vasc Surg 1997; 26 (3) 517-538
  • 28 Schrijver AM, Reijnen MM, van Oostayen JA , et al. Dutch randomized trial comparing standard catheter-directed thrombolysis versus ultrasound-accelerated thrombolysis for thromboembolic infrainguinal disease (DUET): design and rationale. Trials 2011; 12: 20
  • 29 Crowther MA, Ginsberg JS, Julian J , et al. A comparison of two intensities of warfarin for the prevention of recurrent thrombosis in patients with the antiphospholipid antibody syndrome. N Engl J Med 2003; 349 (12) 1133-1138
  • 30 Rosove MH, Brewer PM. Antiphospholipid thrombosis: clinical course after the first thrombotic event in 70 patients. Ann Intern Med 1992; 117 (4) 303-308