A Case of Recurrent First Trimester Miscarriages Due to Inherited Multifactorial Thrombophilia in an Otherwise Asymptomatic Patient: A Clinical Dilemma

Excerpt

Thrombophilias are haemostatic disorders and can be acquired, inherited or a combination of both. Inherited disorders include anti-thrombin III deficiency, protein S deficiency, protein C deficiency, factor V Leiden mutation, prothrombin gene G20210A mutation and methylenetetrahydrofolate reductase (MTHFR) mutation [1]. Protein S deficiency is a rare form of inherited thrombophilia, and its prevalence is only 0.2–0.3% in general population [1]. Its deficiency creates a hypercoagulable state and such condition predisposes a pregnant patient for risk of venous thromboembolism (VTE). The frequency of homozygous MTHFR mutation in the Asian women is 3.8% [2]. This mutation may also lead to a hypercoagulable state by increasing homocysteine levels in the blood. In the past, it was hypothesized that such inherited thrombophilias may lead to pregnancy loss by placental microthrombi and thrombosis. Due to lack of prospective data in untreated group, current guidelines do not recommend screening of patients with early pregnancy loss for inherited thrombophilias until they have any thrombotic complication in self or any family member in past or in present. Moreover, till date no studies have confirmed association of protein S deficiency with early pregnancy loss. Furthermore, there are only few case reports of multifactorial thrombophilia with recurrent first trimester miscarriages without any thrombotic complication in the patient or in any family member. We present such a rare case of concomitant protein S deficiency and MTHFR mutation, as a probable cause of recurrent first trimester pregnancy loss, without having any systemic thrombotic complication herself or in any family member, causing management dilemma. …