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

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...

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Main Authors: Nadim El-Majzoub, Rami Mahfouz, Nadim Kanj
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2015/606805
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spelling doaj-122c6644ec4c4ea2aced16840fabca432020-11-24T20:44:47ZengHindawi LimitedCase Reports in Medicine1687-96271687-96352015-01-01201510.1155/2015/606805606805Pulmonary 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 GeneNadim El-Majzoub0Rami Mahfouz1Nadim Kanj2Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El Solh, Beirut 110 72020, LebanonDepartment of Pathology and Laboratory Medicine, American University of Beirut Medical Center, P.O. Box 11-0236, Riad El Solh, Beirut 110 72020, LebanonDivision 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, LebanonSarcoidosis 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.http://dx.doi.org/10.1155/2015/606805
collection DOAJ
language English
format Article
sources DOAJ
author Nadim El-Majzoub
Rami Mahfouz
Nadim Kanj
spellingShingle Nadim El-Majzoub
Rami Mahfouz
Nadim Kanj
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
author_facet Nadim El-Majzoub
Rami Mahfouz
Nadim Kanj
author_sort Nadim El-Majzoub
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher Hindawi Limited
series Case Reports in Medicine
issn 1687-9627
1687-9635
publishDate 2015-01-01
description 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.
url http://dx.doi.org/10.1155/2015/606805
work_keys_str_mv AT nadimelmajzoub pulmonaryembolisminasarcoidosispatientdoubleheterozygousformethylenetetrahydrofolatereductasegenepolymorphismsandfactorvleidenandhomozygousforthedalleleofangiotensinconvertingenzymegene
AT ramimahfouz pulmonaryembolisminasarcoidosispatientdoubleheterozygousformethylenetetrahydrofolatereductasegenepolymorphismsandfactorvleidenandhomozygousforthedalleleofangiotensinconvertingenzymegene
AT nadimkanj pulmonaryembolisminasarcoidosispatientdoubleheterozygousformethylenetetrahydrofolatereductasegenepolymorphismsandfactorvleidenandhomozygousforthedalleleofangiotensinconvertingenzymegene
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