‘Idiopathic’ pulmonary embolism

Frequency of Thrombophilia-Related Genetic Variations in Patients with Idiopathic Pulmonary Embolism in an Urban Emergency Department

“…These idiopathic cases represent a concern for emergency physicians, because patients with idiopathic PE are more difficult to identify prospectively than are patients with traditional risk factors for PE (5)(6)(7)(8). Approximately 5%-10% of the general Caucasian population carries either the factor V (FV) 4 Leiden (G1691A) or the factor II (F2; prothrombin G20210A) sequence variant, and 20%-25% of unselected patients with venous thrombosis are heterozygous for either variant (9 -11 ).…”

“…For any patient who self-presents to an emergency department (ED) with signs and symptoms of PE in the absence of overt risk factors for thrombosis, the clinician must con-sider the possibility that this patient has an unrecognized thrombophilia, which might increase the patient's pretest probability of PE. At present, no reported study has measured the frequency of thrombophilia-related genetic variants in self-reporting, acutely symptomatic patients ultimately diagnosed with idiopathic PE and compared this frequency with relevant control groups (5,10,12,14 ).…”