Clinical and etiological profile of unprovoked thrombosis in young patients admitted at a tertiary care hospital

Nadeem Ahmad; Nihida Akhter; Tufail Ahmad Sheikh

doi:10.18203/2320-6012.ijrms20174603

Authors

Nadeem Ahmad Department of Internal Medicine, GMC Srinagar Kashmir, India
Nihida Akhter Department of Gynaecology and Obstetrics, LD hospital, Kashmir, India
Tufail Ahmad Sheikh Department of Anesthesiology and Critical Care SMHS Hospital Sringar, Kashmir, India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20174603

Keywords:

Deep venous thrombosis, Factor V Leiden, Thrombophilias, Thromboembolism, Warfarin

Abstract

Background: It is now possible to identify acquired and hereditary risk factors in a substantial percentage of patients presenting with a venous thrombotic event. The objective of the study was to study the clinical and etiological profile of patients with unprovoked thrombosis in young patients.

Methods: Twenty-one patients 09 males (42.8%) and 12 females (57.14%) with a mean age of 29.67±5.21 were studied, who presented with unprovoked thrombosis.

Results: Among 21 patients studied most common presentation was deep venous thrombosis of lower limbs (38.09%) followed by recurrent abortions with deep venous thrombosis (14.28%) and cerebellar infarction (14.28%). In etiological profile, the most common thrombophilla was factor V Leiden mutation (28.57%) followed by antiphospholipid antibody syndrome (23.8%), protein C deficiency (19.04%), methylene tetrahydrofolate reductase (9.52%) and antithrombin, prothrombin gene mutation, hyperhomocystenemia and janus kinase 2 mutations (4.76%). Among 6 patients of factor V Leiden mutation 3 presented with deep venous thrombosis of lower limbs, 1 patient each with middle cerebral artery infarct, juglar vein thrombosis and subclavian vein thrombosis respectively.

Conclusions: Factor V Leiden mutation is the most common inherited thrombophillias which has been "substantiated from various studies.

Metrics

Metrics Loading ...

References

De-Sweet M. Thromboembolism. In:De-Sweet M, Medical Disorders in Obstetric Practice, 4th edition. Blackwell Science, UK; 2002:100-24.

Bauduer F, Lacombe D. Leiden FV. Prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics. Molecular genetics and metabolism. 2005;86(1):91-9.

Kovalevsky G, Gracia CR, Berlin JA, Sammel MD, Barnhart KT. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis. Archives of internal medicine. 2004;164(5):558-63.

Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369(6475):64-7.

Koster T, Vandenbroucke JP, Rosendaal FR, de Ronde H, Briët E, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. The Lancet. 1993;342(8886-8887):1503-6.

Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 39-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88(10):3698-703.

Segal JB, Brotman DJ, Necochea AJ, Emadi A, Samal L, Wilson LM, et al. Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA. 2009;301(23):2472-85.

De Stefano V, Rossi E, Paciaroni K, Leone G. Screening for inherited thrombophilia: indications and therapeutic implications. haematologica. 2002;87(10):1095-108.

White RH. The epidemiology of venous thromboembolism. Circulation. 2003;107(23 suppl 1):1-4.

Dahlbäck B. Factor V. Gene mutation causing inherited resistance to activated protein C as a basis for venous thromboembolism. Journal of internal medicine. 1995;237(3):221-7.

Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 332:912:1995.

Markus HS, Zhang Y, Jeffery S. Screening for the factor-V Arg 506 Gln mutation in patients with TIA and stroke. Cerebrovasc Dis. 1996;6:360.

Albucher JF, Guiraud Chaumeil B, Chollet F, Cadroy Y, Sie P. Frequency of resistance to activated protein C due to factor V mutation in young patients with ischemic stroke. Stroke. 1996;27:766.

De Lucia D, Cerbone AM, Belli A, Di Mauro C, Renis V, Conte MM. et al: Resistance to activated protein C in adults with a history of juvenile transient ischaemic attacks. Thromb Haemost. 1996;76:627.

Landi G, Cella E, Martinelli I, Tagliabue L, Mannucci PM, Zerbi D. Arg506Gln factor V mutation and cerebral ischemia in the young. Stroke. 1996;27:1697.

Horne MK, McCloskey DJ, Leiden FV. as a common genetic risk factor for venous thromboembolism. J Nurs Scholarsh. 2006;38(1):19-25.

Hughes G, Khamashta MA. Hughes Syndrome: Highways and Byways. Springer; 2013.

Rand JH. Antiphospholipid antibody syndrome: new insights on thrombogenic mechanisms. The American journal of the medical sciences. 1998;316(2):142-51.

Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. "Deficiency of protein C in congenital thrombotic disease". J. Clin. Invest. 1981;68(5): 1370-3.

Khan S, Dickerman JD. Hereditary thrombophilia. Thrombosis J. 2006;4(1):15.