Acute coronary syndrome and thrombophilia in young patients:clinical data, experience

There is an increasing number of young patients with acute coronary syndromes. The gold standard for diagnosis and treatment remains coronary angiography and primary percutaneous coronary intervention (PPCI). Especially in young individuals there are cases with large thrombus burden and almost none angiographically visible coronary atherosclerosis, which raises major concerns about the etiological cause for such events. Thrombophilia can lead to repeated and unexplained thrombus formation and that is why recently there is an increasing interest in the relationship between thrombophilia and acute coronary syndrome (ACS) in early age. Still there's no precise treatment algorithm.

To diagnose and evaluate the frequency of thrombophilia in patients presenting with first ACS in young age and to alter future treatment in order to prevent further events and improve prognosis.

We evaluated all patients with first ACS from age<40 for men and women <50 in our hospital for 3 years. All patients were diagnosed and treated with PPCI. Complete family history was taken. We performed laboratory tests for the most frequent gene mutations, responsible for thrombophilia factor V Leiden, PAI –1 4G/5G, prothrombin G20210A, MTHFR - C677T, MTHFR A 1287C, MTHFR A 1298C and glycoprotein IIb/IIIa in all patients.

210 patients with ACS were admitted with 36 young patients (age men <40 and women <50). In all we performed screening for thrombophilia. 32 individuals (5 women and 27 men; mean age of 46) had a distinct genetic variation which can be attributed to thrombophilia. 85% of them had family history for ischemic heart disease. The conventional risk factors for coronary artery disease (CAD), including arterial hypertension, dyslipidemia, smoking, and diabetes were presented respectively in 43%, 57%, 43% and 3% in the group. The most often diseased artery was the left anterior descending artery (LAD). The genetic evaluation results were 20% homozygotes of pathogenic variation of factor V of Leiden, 7% heterozygotes of pathogenic form of factor V of Leiden 25% PAI 1 4G/5G homozygotes, 11% PAI 1 4G/5G heterozygotes, 13% prothrombin G20210A homozygotes and 2% prothrombin G20210A heterozygote. In 28% the index event was a repeated ACS and 4% has had a previous ischemic stroke. We then consulted all of them with haemathologist and altered further discharge treatment (in 100% new oral anticoagulants (NOAC) was added to dual antipatled therapy). In follow up at the first year 70% were left on aspirin 100mg and NOAC and 10% were considered high risk and were left on two NOAC.

Thrombophilia is an indipendant risk factor for myocardial infarction in young patients and should not be easily overlooked. In them screening for thrombophilia could be beneficial, especially for the follow-up treatment and improvement of the late prognosis. Such detection could prevent subsequent AMI.

Type of funding source: Private hospital(s)