A Rare Case of Pulmonary Embolism, Deep Vein Thrombosis, Bilateral Avascular Necrosis of the Femoral Head, and Miscarriage following COVID-19 in a Patient with Multiple Genetic Coagulation Factor Deficiency—A Case Report

Abstract

The coronavirus disease (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The most common symptoms of COVID-19 are respiratory symptoms, but some patients develop severe thrombotic complications. Studies have looked into the association between the disease severity in COVID-19 patients and polymorphisms in the genes encoding prothrombotic and cardiovascular risk factors. The presented rare case describes inflammatory and acute thrombotic complications with musculoskeletal involvement in a patient with combined coagulation genetic defects. A 37-year-old woman was hospitalized with a respiratory infection of coronavirus etiology complicated by pneumonia and pulmonary embolism and confirmed using computed tomography and elevated D-dimer. Sixteen days after discharge, she developed deep vein thrombosis after discontinuation of antiplatelet and anticoagulant therapy due to bleeding. Four months after infection, we found bilateral avascular necrosis of the femoral head. The patient had a miscarriage with considerable blood loss and was given genetic testing, which confirmed the presence of a combined defect with a risk of both thrombosis and bleeding—heterozygous for the Leiden G1691A mutation, homozygous for the 677C>T mutation (MTHFR), heterozygous for the Val34Leu (factor XIII) mutation, and 4G/5G polymorphism in the promoter of the plasminogen activator inhibitor 1 (PAI-1) genes. The described rare clinical case poses a serious challenge regarding the anticoagulant and antiplatelet therapy, especially in the presence of thrombotic complications in COVID-19 and the underlying genetic defect associated with a risk of bleeding, including life-threatening intracranial bleeding. More research is needed to better understand the major medical concern about antithrombotic treatment in COVID-19 patients with bleeding risk in the context of genetic coagulation disorders. The case raises the vigilance of clinicians to search for a genetic predisposition to the development of severe thrombotic events in COVID-19 patients with no other known underlying diseases.