Homozygous factor V leiden mutation: Rare etiology of pulmonary embolism

Abstract

Introduction and importance: Venous thromboembolic disease (VTE), which includes pulmonary embolism (PE) and deep vein thrombosis (DVT), is a major public health problem with high morbidity and mortality. The main risk factors for VTE are surgery, active cancer, immobilization, trauma or fracture, pregnancy and estrogen therapy. Genetic risk factors are also present and are dominated by the factor V Leiden mutation, which is present in 20% of VTE and in 2-5% of the general population with an annual incidence of 0.1% (Margaglione and Grandone, 2011; Ridker et al., 1995) [4,5]. This mutation can be heterozygous or homozygous, which is rarer. In this context, we report the case of a 37-year-old patient with no medical or surgical history and no notable risk factors who was admitted to the emergency room for the management of acute dyspnea at rest in connection with a bilateral proximal pulmonary embolism originating from a homozygous factor V Leiden mutation.Despite the efforts of the World Health organization, pulmonary embolism remains a major cause of morbidity and mortality in our days, and the etiological assessment is performed in a very few cases, which makes the management standardized and not specific. That is why it is important to make an etiological assessment in a systematic way especially in young subjects for an optimal management and to avoid recurrences.

Case presentation: Here, we report a rare case of a 37-year-old patient, who was admitted for the management of resting dyspnea related to bilateral proximal pulmonary embolism, in whom the etiological work-up was in favor of a homozygous factor V Leiden mutation. This case shows diagnostic difficulties and management of this rare disease.

Keywords: Case report; Homozygous factor V Leiden mutation; Pulmonary embolism; Thoracic angioscan.

Fig. 1

EKG showing negative T waves in the anteroseptal and inferior territories.

Fig. 2

Short axis parasternal section showing dilatation of the right ventricle associated with flattening of the interventricular septum.

Fig. 3

Apical section showing a right atrial thrombus(A), associated with a paradoxical septum(B).

Fig. 4

Thoracic angioscan showing bilateral proximal pulmonary embolism.