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

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.

Sarcoidosis in the Middle East

“…However, a few case reports have been published on different aspects of the disease, including familial, oral, peritoneal, cardiac, and cutaneous disease and a case of sarcoidosis with a pulmonary embolism. [353637383940] Myocardial involvement in one patient led to conduction abnormalities and was successfully treated with infliximab. [35] In two other reports, one patient with a pulmonary embolism was doubly heterozygous for methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and Factor V Leiden and homozygous for the D allele of the ACE gene, while the other had mutations in the MTHFR, Factor XIII, and Factor II genes.…”

“…[35] In two other reports, one patient with a pulmonary embolism was doubly heterozygous for methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and Factor V Leiden and homozygous for the D allele of the ACE gene, while the other had mutations in the MTHFR, Factor XIII, and Factor II genes. [3841] In a study of 76 Lebanese patients with cutaneous sarcoidosis, systemic sarcoidosis was diagnosed among 29% of the patients, with the most frequent extracutaneous manifestation being lung sarcoidosis (73%). [40]…”