Abstract
The risk of thrombosis in individuals with rare compound thrombophilias, homozygous factor V Leiden (FVL) plus heterozygous prothrombin G20210A (PTM), homozygous PTM plus heterozygous FVL, and homozygous FVL plus homozygous PTM, is unknown. We identified, worldwide, individuals with these compound thrombophilias, predominantly through mailing members of the International Society on Thrombosis and Haemostasis. Physicians were sent a clinical questionnaire. Confirmatory copies of the genetic results were obtained. One hundred individuals were enrolled; 58% were female. Seventy-one individuals had a venous thrombosis (includes superficial and deep vein thrombosis, and pulmonary embolism), 4 had an arterial thrombosis and 6 had both. Nineteen individuals had never had a thrombotic event. Thrombosis-free survival curves demonstrated that 50% of individuals had experienced a thrombotic event by 35 yrs of age, while 50% had a first venous thromboembolic event (VTE; includes all venous thrombosis except superficial thrombosis) by 41 yrs of age; 38.2% of first VTEs were unprovoked. 37% of patients had at least one VTE recurrence. Seventy percent of first pregnancies carried to term and not treated with anticoagulation were thrombosis-fr...Continue Reading
References
Dec 1, 1994·The Journal of Clinical Investigation·B ZöllerB Dahlbäck
May 5, 1994·Nature·R M BertinaP H Reitsma
Jul 1, 1997·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·T E HowardA Duncan
Dec 19, 1998·British Journal of Haematology·A TosettoP M Mannucci
Mar 12, 1999·Arteriosclerosis, Thrombosis, and Vascular Biology·O SalomonU Seligsohn
Mar 27, 1999·Thrombosis Research·X XuJ H Griffin
Apr 7, 1999·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·G M WulfK A Bauer
May 8, 1999·British Journal of Haematology·J CorralV Vicente
Aug 24, 1999·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·W M HalbmayerM Fischer
Apr 25, 2000·Angiology·M MitsisG Vartholomatos
Jun 10, 2000·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·P SimioniA Girolami
Sep 21, 2000·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·UNKNOWN Procare Group
Jan 2, 2001·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·M RuggeriF Rodeghiero
Feb 24, 2001·Thrombosis Research·V De StefanoG Di Minno
Dec 9, 2003·American Heart Journal·Robert J Kim, Richard C Becker
Sep 15, 2004·Lancet·Salim YusufUNKNOWN INTERHEART Study Investigators
Jan 31, 2006·São Paulo Medical Journal = Revista Paulista De Medicina·Egle CoutoJoão Luiz Pinto e Silva
Jun 18, 2009·JAMA : the Journal of the American Medical Association·Jodi B SegalEric B Bass
Apr 7, 2010·Circulation·Willem M LijferingJan van der Meer
Aug 26, 2010·Journal of Thrombosis and Haemostasis : JTH·A F JacobsenP M Sandset
Feb 1, 2011·British Journal of Haematology·Rachel E J RoachSaskia Middeldorp
Jun 11, 2011·Blood·Elizabeth F W van VlijmenKarina Meijer
Oct 12, 2012·Journal of Thrombosis and Thrombolysis·Ymir SaemundssonPeter J Svensson
Aug 1, 2013·European Journal of Epidemiology·Benedetto SimoneStefania Boccia
Aug 6, 2013·Blood·Paolo BucciarelliIda Martinelli
Dec 7, 2013·Blood·Lisa K HicksMark A Crowther
Feb 6, 2014·Blood·Clive Kearon, Elie A Akl
Citations
Jul 11, 2020·JBJS Case Connector·Kevin D PlancherStephanie C Petterson
Jan 12, 2021·Curēus·Ryder L CostaSamarth Reddy
Mar 7, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sucheta BhattUNKNOWN ACMG Professional Practice and Guidelines Committee
Aug 7, 2021·Children·María Dolores García-AlfaroDomingo González-Lamuño