Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thrombophilia is caused by several genetic and acquired factors. Existence of more than one genetic factor may increase the risk of developing recurrent thrombotic events. Here, we present a case of a 48-year-old male with a known history of deep venous thrombosis and a known mutation in factor V Leiden combined with mild protein S deficiency, who presented with a painful swelling in the left leg. Moreover, the patient had a history of diabetes, dyslipidemia and obesity. Prothrombin time and platelet count were within the normal range. The international normalized ratio and activated partial thromboplastin time were 3.21 and 36.7 s, respectively. The Doppler study showed a thrombus in the saphenous vein, and complementary genetic screening investigations revealed heterozygous mutation for prothrombin (G20210A). A diagnosis of multifactorial genetic thrombophilia was established. The patient was treated with warfarin, which resulted in significant improvement in the follow-ups, and at the time of reporting this case, there were no clinical or biological signs of thrombosis. The presence of multiple hereditary and acquired thrombophilic factors is a rare clinical presentation that requires close monitoring, for which a lifelong anticoagulation therapy should be discussed based on the clinical response of the patient.
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PMID:Three-factorial Genetic Thrombophilia with Recurrent Thrombotic Events in a Saudi Patient: A Case Report. 3295 15

The metabolic syndrome is a complex disorder of various metabolic risk factors in a single individual having central obesity and commonly associated with diabetes and cardiovascular diseases. The aim of our study was to study the relationship between coagulation abnormalities and metabolic syndrome. We performed a prospective cross-sectional study in a tertiary care hospital. A total of fifty cases of metabolic syndrome and fifty age & sex matched controls were selected. These two groups were investigated for Prothrombin Time (PT), Activated Partial Thromboplastin Time (APTT), Fibrinogen levels, Plasminogen Activator Inhibitor 1(PAI1) levels and Factor VIII levels. In cases with metabolic syndrome, significantly increased levels of Fibrinogen, Factor VIII and Plasminogen Activator Inhibitor1 (PAI1) were observed. PT & APTT were shorter in cases with metabolic syndrome. The coagulation parameters studied, correlated significantly with the components of metabolic syndrome. Metabolic syndrome is a hypercoagulable state and further studies are required for further evaluation of the consequences of this hypercoagulable state. There is a need for clinical trials evaluating prophylactic anticoagulation for prevention of venous thrombosis in patients with metabolic syndrome.
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PMID:Study of Prothrombotic Changes in Metabolic Syndrome. 3310 Jul 12


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