Pulmonary Embolism in a Sarcoidosis Patient Double Heterozygous for Methylenetetrahydrofolate Reductase Gene Polymorphisms and Factor v Leiden and Homozygous for the D-Allele of Angiotensin Converting Enzyme Gene
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Hindawi Limited
Abstract
Sarcoidosis is a multisystem granulomatous disease of unknown etiology and pathogenesis. It presents in patients younger than 40 years of age. The lungs are the most commonly affected organ. Till the present day, there is no single specific test that will accurately diagnose sarcoidosis; as a result, the diagnosis of sarcoidosis relies on a combination of clinical, radiologic, and histologic findings. Patients with sarcoidosis have been found to have an increased risk of pulmonary embolism compared to the normal population. MTHFR and factor V Leiden mutations have been reported to increase the risk of thrombosis in patients. We hereby present a case of a middle aged man with sarcoidosis who developed a right main pulmonary embolism and was found to be double heterozygous for methylenetetrahydrofolate reductase gene polymorphisms and factor V Leiden and homozygous for the D-allele of the angiotensin converting enzyme gene. © 2015 Nadim El-Majzoub et al.
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5,10 methylenetetrahydrofolate reductase (fadh2), Blood clotting factor 5 leiden, Corticosteroid, Dipeptidyl carboxypeptidase, Homocysteine, Low molecular weight heparin, Warfarin, Adult, Allele, Amino acid blood level, Article, Bronchoscopy, Cardiac imaging, Case report, Computer assisted tomography, Corticosteroid therapy, Dna polymorphism, Doppler echography, Drug megadose, Dyspnea, Electrocardiography, Fever, Follow up, Genetic screening, Heart right bundle branch block, Heterozygote, Holter monitoring, Homozygote, Human, Lung biopsy, Lung embolism, Lung fibrosis, Lung sarcoidosis, Male, Medical history, Middle aged, Nuclear magnetic resonance imaging, Nuclear magnetic resonance scanner, Oligospermia, Pleura effusion, Priority journal, Pulmonary hypertension, Real time polymerase chain reaction, Restrictive cardiomyopathy, Scrotum varicosis, Thorax radiography, Transthoracic echocardiography, Varicocelectomy, Varicosis