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

Case Reports in Medicine
Nadim El-MajzoubNadim Kanj

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.

References

Feb 3, 2009·Respiratory Medicine·B MusellimI Uzel
Jan 26, 2011·Annals of Thoracic Medicine·Thamer H Al-KhouzaieFaisal M Al Subhi
Sep 23, 2011·Radiología·I Herráez Ortega, L López González
Mar 16, 2012·Respiratory Medicine·Barbaros S ErdalElliott D Crouser
Apr 23, 2013·Annals of Hematology·Patompong Ungprasert, Narat Srivali

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