Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020538 (hypertension)
 170,190 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pulmonary Arterial Hypertension (PAH) is a progressive symptomatic disorder, which may ultimately lead to death if left untreated. Although majority of PAH cases are idiopathic, pulmonary hypertension resulting due to certain underlying conditions are also observed frequently. In such cases, it becomes essential to identify any potentially treatable or reversible causes for PAH. There have been significant advances in the medical management of PAH and various medicines have been approved by US Food and Drug Administration (FDA) for various stages of PAH. With these therapies, there can be varying degrees of improvement in the pulmonary artery pressures and hemodynamic profile. Therefore, physiologic reversal can and does occur, sometimes to the point of normalization. We hereby present three such cases of severe PAH in patients below 50 years of age due to various aetiologies like left heart disease, isolated unilateral absence of right pulmonary artery with hypoplastic right lung and factor V Leiden mutation associated pulmonary thromboembolism, all of whose pulmonary artery pressures are completely normalised with adequate treatment of the underlying disease and with optimised medications for PAH, ultimately leading to tapering and stoppage of PAH medications.
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PMID:A Case Series of Young Patients with Completely Reversed Severe Pulmonary Hypertension. 2865 42

In young patients with T1D, neurological manifestations of cerebral hypertension should suggest the possibility of a cerebral venous sinus thrombosis (CVST). In these patients an inherited prothrombotic risk factor, including factor V Leiden G1691A gene mutation, should be considered during an event of thrombosis. Improving the glycemic control is the first factor that should be controlled in a patient who carries a genetic prothrombotic risk factor. Anticoagulant treatment should be started as son as CVST has been diagnosed. Long-term antithrombotic treatment with tinzaparin 175 IU/kg/day, a low-molecular weight heparin (LMWH), could be reliable and well tolerated, although an indefinite special follow-up, including neurological controls, is advisable even in asymptomatic patients.
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PMID:Unexpected papilledema in a young male with Type 1 diabetes. 2878 53

Coronary artery disease (CAD) is one of the chief causes of death in the world. Several hypotheses have been promoted as for the origin of the disease, among which are genetic predispositions and/or environmental factors. The aim of this study was to determine the effect of factor V (FV) gene polymorphisms (Leiden, G1691A [FVL] and HR2 A4070G) and to analyze their association with traditional risk factors in assessing the risk of CAD. Our study population included 200 Tunisian patients with symptomatic CAD and a control group of 300 participants matched for age and sex. All participants were genotyped for the FVL and HR2 polymorphisms. Multivariate logistic regression was applied to analyze independent factors associated with the risk of CAD. Our analysis showed that the FVL A allele frequency ( P < 10-3, odds ratio [OR] = 2.81, 95% confidence interval [CI] = 1.6-4.9) and GA genotype ( P < 10-3, OR = 4.03, 95% CI = 2.1-7.6) are significantly more prevalent among patients with CAD compared to those controls and may be predisposing to CAD. We further found that the FVL mutation is an independent risk factor whose effect is not modified by other factors (smoking, diabetes, hypertension, dyslipidemia, and a family history of CAD) in increasing the risk of the disease. However, analysis of FV HR2 variation does not show any statistically significant association with CAD. The FVL polymorphism may be an independent risk factor for CAD. However, further investigations on these polymorphisms and their possible synergisms with traditional risk factors for CAD could help to ascertain better predictability for CAD susceptibility.
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PMID:Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease. 2917 80

Occurrence of paradoxical arterial embolism may cause the first symptoms in patients with a coexisting hypercoagulable state and patent foramen ovale (PFO). This can result in significant morbidity and mortality depending on the location of the embolism. The risks and benefits of closure of small PFOs have not been well elucidated in prior studies. We describe a patient with a history of Factor V Leiden heterozygosity who presented with left arm pain secondary to arterial embolism. The patient was a 51-year-old male who initially presented to the emergency department after awaking from sleep with progressive, severe, burning left arm pain. He had also noted intermittent shortness of breath over the 2 weeks prior to admission. Temperature was 97.4 F, pulse 86, respiratory rate 20 and blood pressure 121/87. Oxygen saturation was 94% on supplemental oxygen. He had a cool left upper extremity and the patient described subjective paresthesias in this extremity. Left radial pulse was difficult to palpate. Physical exam was otherwise unremarkable. Troponin I was mildly elevated at 0.217 ng/l. White blood cell count was 11.8 and INR 1.1. EKG showed sinus tachycardia with non-specific T abnormalities in the anterior leads. His past medical history was notable for only hypertension and hyperlipidemia. Current recommendation is for antiplatelet or anticoagulation for those with hypercoaguable states who suffer a stroke; there is currently no absolute indication for closure device. We describe the case of a 51-year-old male who had presented with left arm pain and shortness of breath. The computed tomography (CT) angiography of chest showed pulmonary emboli with heavy clot burden bilaterally. Heparin was started, but patient was found to have occlusion along large arteries of the left arm. Emergent left axillary, brachial, radial and ulnar embolectomy for acute critical arm ischemia were performed. The transthoracic echocardiogram done the next day with bubble study was positive for patent foramen ovale. Hypercoaguability showed factor V Leiden heterozygosity. Decision was made for the patient to initiate long-term anticoagulation with rivaroxaban and closure was performed. Patient was advised that closure is off label but opted to proceed with closure in light of hypercoaguable state.
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PMID:PFO closure in high-risk patient with paradoxical arterial embolism, deep vein thrombosis, pulmonary embolism and factor V Leiden genetic mutation. 2957 72

Among the major causes and risk factors for fetal loss are chromosomal abnormalities, genetic syndromes, placental abnormalities, thrombophilia (FVL, Fil G20210A, C677T MTHFR, PAl-1 4G /-5G), infection and inflammation (IL-3, IL-4, IL-17, IL-10), antiphospholipid syndrome, maternal diseases such as hypertension, diabetes and obesity. Pregnancy is a prothrombotic state as a result of specific physiological changes with multifactorial ethio-pathogenesis, leading to increased procoagulant factors and structural changes turned a sTasis, inflammatory component and contribution of individual genetic and acquired thrombophilic risk factors. Understanding of the molecular mechanisms of control over the process of embryogenesis, placentation and fetal development and impact of the factors of hemodtasis, inflammation and apoptosis, contributes to the application- of appropriate therapy and increase the chance of successful completion of pregnancy.
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PMID:[FETAL LOSSES DURING THE MATURATION OF THE PLACENTA AND THE RELATIONSHIP WITH SOME PROCOAGULANT CONDITIONS.] 2979 Jul 8

A 40 year old female presented with branch retinal vein occlusion in the right eye followed by a second episode, a year later, of central retinal vein occlusion in the left eye. The patient was found to be heterozygous for factor V Leiden and factor V HR2 haplotype G5380A. She had a history of use of oral contraceptives, had reduced levels of tissue plasminogen activator, positive for lupus anticoagulant and diagnosed with hypertension post second episode of RVO. Presence of both heritable and acquired thrombophilia along with hypofibrinolysis induced by reduced levels of tissue plasminogen activator might have led to the recurrence of retinal vein occlusion in this patient. This case illustrates the contribution of multiple hereditary and acquired risk factors in the clinical manifestation of recurrent retinal vein occlusion thereby warranting the application of a more thorough work-up in such cases. The case also briefly touches on the fact that treatment for every RVO cannot be the same and should be decided by taking into consideration the associated risk factors.
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PMID:Multiple Heritable and Acquired Risk Factors in a Case of Recurrent Retinal Vein Occlusion. 3034 77


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