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.
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.
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El Solh, Beirut 110 72020, Lebanon.
Nadim
N
El-Majzoub
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El Solh, Beirut 110 72020, Lebanon.
Rami
R
Mahfouz
Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El Solh, Beirut 110 72020, Lebanon.
Nadim
N
Kanj