Introduction Thrombophilia is clinical tendency to develop thrombosis. Amutation in the gene encoding coagulation factor V is a common geneticpredisposition to venous thrombosis. A second common genetic risk isprothrombin gene mutation, the G20210A variation associated with elevatedplasma prothrombin levels and increased risk of thrombosis. (1) Furthermore,Protein S deficiency is a rare condition that can lead to DVT.
(2) We presentto you a case of multifactorial hemophilia with a heterozygous prothrombin genemutation, factor V Leiden deficiency, and protein s deficiency. Clinical case:A 48 Years old Saudi man knowing Case of DM, Dyslipidemiawas admitted to our hospital because of left leg swelling after long travel for10 hours. He had the previous history of DVT for 4 years. It was investigatedand he had factor v laden deficiency that confirmed by PCR Assay and he startedwarfarin but he stopped it after 10 months. he had no previous surgery norfamily history or active cancer. On examination, left leg was swelled, worm, tender, and thepulse were intact. The Doppler study of the venous system of the lower limbrevealed, the saphenous vein is occluded by thrombus. Despite the presence of adocumented factor v laden deficiency, the patient was screened for other riskfactors for venous thrombosis.
The results were mildly deficient protein S andheterozygous mutation for prothrombin (G20210A). DiscussionThrombophilia can be defined as a predisposition to formclots. It is a multifactorial disorder that involves the interaction of geneticand acquired risk factors. (1) Wepresent a case of three thrombophilic factors which is factor V Leiden,prothrombin mutation, and a protein s deficiency. We believe that this factorcontributed to the development of thrombophilia in this patient. Also, ourpatient obese and had dyslipidemia which is a knowing risk factor forthrombophilia.
A review of the literature demonstrated a few similarreported cases show three or more thermophilic factor predisposes tothrombophilia. The present case demonstrates the importance of screening forcongenital and acquired thrombophilia should be done in all patients withrecurrent DVT, as multiple thrombophilic factors may contribute to thethrombotic event. ConclusionThrombophilia can cause significant mortality and morbidityamong patients of all ages. This case highlights the need to screened Patientwith recurrent DVT for other risk factors. To the best of our knowledge, thisis the first case to be reported in the kingdom of Saudi Arabia.