Clinical profile, common thrombophilia markers and risk factors in 85 young Indian patients with arterial thrombosis

Abstract

CONTEXT AND OBJECTIVE: Arterial thrombosis may occur consequent to hereditary thrombophilia and increased lipoprotein(a) [Lp(a)] and fibrinogen. Our aim was to study the prevalence of common thrombophilia markers in 85 consecutive cases of arterial thrombosis. DESIGN AND SETTING: A retrospective study was conducted from 85 consecutive young patients treated as outpatients or admitted due to stroke or myocardial infarction at a tertiary care hospital. METHODS: Eighty-five Indian patients (age < 45 years) presenting ischemic stroke (n = 48) or myocardial infarction (n = 37) and 50 controls were studied for seven thrombophilia markers including antithrombin (AT), factor V, protein C, protein S, activated protein C resistance (APC-R), fibrinogen and Lp(a). Functional assays for protein C, protein S, factor V and APC-R were performed using clotting-based methods. Semi-quantitative estimation of fibrinogen was done using Clauss's method and Lp(a) using immunoturbidimetry. Statistical analysis was done using the Epi Info 6 software. RESULTS: Thirty-three samples (38.8%) tested positive for one or more thrombophilia markers. The three commonest abnormalities were elevated Lp(a) (20%), fibrinogen (17.6%) and low APC-R (14.2%). Low levels of protein C, protein S and AT were present in 4.7, 9.4 and 7% of the patients, respectively. Overall, the risk factor profile was: smoking (33%), positive family history (15.3%), hyperlipidemia (7%), hypertension, diabetes mellitus and obesity (2.3% each). CONCLUSIONS: An association was found between low levels of protein C, protein S and AT and arterial thrombosis, but only elevated fibrinogen levels, smoking, positive family history and hyperlipidemia showed statistical significance.

Common thrombophilia markers in young patients with primary arterial and venous thrombosis

“…5 Factor V resistance was found in only few patients (5/46 positive cases) which is in agreement with the study of wolf et al 6 However, some recent studies have reported a relatively higher frequency of APC-R in Indian population. [7][8][9] In a study by Khare et al, the prevalence of factor V Leiden was significantly higher in MI cases.…”

The role of biochemical risk factors in the etiology of AIS in children and adults

“…In a case-control study conducted by Kopyta et al, the middle level of Lp(a) in stroke children was significantly higher than in controls (160 mg/dL vs. 24 mg/dL) [53]. Studies conducted on adult populations showed a weak association between a high Lp(a) level and an AIS occurrence [54][55][56][57][58]. Study of Rigal et al showed a stronger Lp(a)-AIS association in white men and blacks than in white women [59].…”

“…Researches carried out on different children populations showed no relation between PS deficiency and AIS occurrence [15,51,52,66,76]. Investigations conducted on adult populations [54,77,78] exposed a mild association between PS deficiency and arterial ischemic strokes, but due to small number of articles on this topic any accurate conclusions cannot be drawn. Frequencies of PS deficiency in pediatric and adult stroke patients based on the published data are shown in Table 6.…”

Prothrombin G20210A and Factor V Leiden mutations in ischemic arterial stroke

“…Etiyolojik neden saptanamayan %30-40 oranındaki bir grup ise kriptojenik inme grubunu oluşturmaktadır (4). Protein C ve S eksikliği, aktive protein C (APC) rezistansı ve trombofilik mutasyonlar iskemik inmenin etiyolojisinde yer aldığı bilinmektedir (1,5). Trombofili mutasyonları arasında en sık görülenler Faktör V (FV) Leiden G1691A ve protrombin G20210A mutasyonlarıdır.…”

“…Trombofili mutasyonları arasında en sık görülenler Faktör V (FV) Leiden G1691A ve protrombin G20210A mutasyonlarıdır. Bu mutasyonlar ve artmış homosistein seviyeleri iskemik inme için herediter risk faktörlerini oluşturmaktadır (5). Geniş popülasyon çalışmalarında normal faktör V olgularına göre heterozigot FV Leiden G1691A mutasyonu olan olgular için 5-10 kat, homozigot FV Leiden G1691A mutasyonu olan olgular için 50-100 kat artmış venöz tromboz riski olduğu bildirilmiştir.…”