Mural thrombus of the aorta in association with homozygous plasminogen activator inhibitor type 1 (PAI-1)-675(4G) and heterozygous GP Ia 807C/T genotypes

Abstract

Thrombus formation in the thoracic and abdominal aorta without evidence of arteriosclerotic disease is very uncommon. We present a case of a 50-year-old woman with a mural thrombus of the upper abdominal aorta associated with a combination of two mutations predisposing for thrombophilia. The genetic analysis showed a homozygous mutation of plasminogen activator inhibitor type 1 (PAI-1)-675 (4G) and a heterozygous mutation of GP Ia 807C/T. To our knowledge, this is the first report of the combination of both mutations occurring in a patient with isolated thrombus formation of the aorta.

A Rare Case of Mural Thrombus in Normal Descending Thoracic Aorta with Literature Review

“…Unexpected aortic mural thrombi (AMI) is recognized as one of the rare causes, whose incidence of detection has increased due to the current advancement in imaging technology [12,13]. Few case reports demonstrate that genetic predisposition might have a role in increasing individual's susceptibility for thrombus formation in normal aorta [14]. Recent studies have shown a correlation between various risk factors and thrombus formation in a blood vessel including hyperviscosity, antiphospholipid syndrome, essential thrombocytopenia, hyperhomocysteinaemia, coagulation factor mutation (Factor V, Factor II G2021A) or deficiency (antithrombin III, protein C or S), familial dysfibrinogenemia, chronic smoking, nephrotic syndrome, drug abuse, severe trauma/burns, cancer, late pregnancy, steroid use and hormone replacement therapy [8].…”

Thrombus in the Non-aneurysmal, Non-atherosclerotic Descending Thoracic Aorta – An Unusual Source of Arterial Embolism

“…Several publications 8,18 have demonstrated that genetic and thrombophilic factors could be associated with thrombus formation in the NAADTA. Recent advances in genetic diagnosis have shown a correlation between certain genetic patterns and thrombus formation at other vascular sites.…”

Regarding “Floating thoracic aortic thrombus in ‘protein S’ deficient patient”

“…4 The observation that protein C and protein S deficiency may predispose to warfarin-induced skin necrosis and thrombosis, however, does not mandate that their levels always be measured before starting oral anticoagulant therapy. The rarity of this and other genetic trombophilic associations 5 and their possible complications, in fact, makes this approach impractical. However, to prevent possi-ble complications, it is advisable to always provide coverage with therapeutic dose of heparin during the critical initial window, then start with low doses of warfarin, and gradually increase the dose until the therapeutic range is reached.…”