Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angiotensin I-converting enzyme (ACE) is a peptidyldipeptide hydrolase that is located mainly on the luminal surface of vascular endothelial cells but also in cells derived from the monocyte-macrophage system. Physiologically, ACE is a key enzyme in the renin-angiotensin system, converting angiotensin I into the potent vasopressor angiotensin II and also inactivating the vasodilator bradykinin. Increased serum ACE activity (SACE) has been reported in pathologies involving a stimulation of the monocytic cell line, primarily granulomatous diseases. Sarcoidosis is the most frequent and the better studied of these diseases; high SACE is not only a well-established marker for the diagnosis but is also a useful tool for following its course and evaluating the effect of therapy. SACE can also be increased in nonsarcoidotic pulmonary granulomatous diseases such as silicosis and asbestosis, in extrathoracic granulomatous pathologies such as Gauchers disease and leprosis, and, to a lesser extent, in nongranulomatous disorders such as hyperthyroidism or cholestasis. On the other hand, monitoring sarcoidosis obviates the measurement of ACE activity in other biological fluids, e.g., broncho-alveolar and cerebrospinal fluids, in the search of a locoregional dissemination or dis-simulation of the disease. Decreased SACE has been reported in vascular pathologies involving an endothelial abnormality, e.g., deep vein thrombosis, and in endothelium dysfunctions related to the toxicity of chemo- and radiotherapy used in cancers, leukemias, and hematopoietic or organ transplantations. SACE is also of interest for monitoring arterial hypertension treated with specific synthetic ACE inhibitors. These various reasons for determining ACE activity have led to the development of numerous methods. The most widely used is the spectrophotometric assay using hippuryl-histidyl-leucine as substrate. Fluorimetric and radiochemical assays using both classic and novel substrates have been proposed, but they are time consuming, require special apparatus, and are not suited to automation. Kinetic spectrophotometry of furylacryloyl-phenylalanyl-glycyl-glycine hydrolysis is now used extensively because it is easy to automatize. Efforts are now required to standardize one or more of these assays. Indeed, "normal" plasma values differ not only according to the substrate, but also to the method of determination and to sex and age.
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PMID:Angiotensin-converting enzyme: clinical applications and laboratory investigations on serum and other biological fluids. 166 62

Angiotensin-converting enzyme (ACE) is a well known zinc-metallopeptidase that converts angiotensin I to the potent vasoconstrictor angiotensin II and that degrades bradykinin, a powerful vasodilator, both for regulation of vascular tone and cardiac functions. Other natural substrates of ACE were identified broadening the functions of this enzyme within different physiological contexts such as neuronal metabolism, hematopoiesis, digestion and reproduction. Synthetic substrates were developed for the determination of ACE activity in various biological fluids, mostly human plasma, for the diagnosis of sarcoidosis and other granulomatous diseases. After the successful use of captopril, the first ACE inhibitor in the treatment of hypertension, a number of molecules were synthesized and used in the treatment of congestive heart failure and for preventing cardiac impairment after myocardial infarction. This class of antihypertensive drugs benefited from structural data on carboxypeptidases active site, as ACE molecule has not yet been crystallized. In the last two decades ACE gene has been cloned that allowed the identification (i) of two isoenzymes, one called somatic ACE resulting from gene duplication and primarily expressed in endothelial cells, and the other, called germinative or testicular ACE, resulting from the transcription in the male reproductive system of a more simple gene, (ii) of an hydrophobic C-terminal peptide for membrane-anchoring and specifically cleaved by a metalloprotease to release soluble forms of both isoenzymes, and (iii) of several allelic polymorphisms, one of them consisting of an insertion/deletion (I/D) polymorphism in a short intronic Alu sequence that could account for half the variance in plasma ACE level and resulting in a large inter-individual variability; moreover this I/D polymorphism was proposed as a genetic marker for identifying individuals at high risk of ischemic heart disease and of anticipating in one individual the efficacy of the antihypertensive therapy, although conflicting data arose from the past decade literature. Moreover, ACE gene cloning has confirmed the expression of the enzyme in endothelial cell, in particular as an ecto-enzyme facing the vascular lumen, but not to the same extent with regard to the vascular origin of the cells. Plasma ACE in healthy subjects arises essentially from the endothelium. On the other hand, in granulomatous diseases where a local stimulation of macrophages leads to an abnormal ACE secretion, it can also be found in other biological fluids such as cerebrospinal and broncho-alveolar fluids. Low plasma ACE levels result from endothelium impairment such as in deep vein thrombosis or in endothelio-toxic anticancer therapies. Another cause of low, sometimes undetectable, plasma ACE levels is the use of an ACE inhibitor, but this is without any significance with regard to its clinical benefits. Albeit molecular cloning has provided a number of new details on ACE structure and function, many questions still remain, in particular about its tertiary structure including glycosylations, about its tissue-specific expression and regulation, and also about the exact significance of the I/D polymorphism in cardiovascular pathology including the pharmacogenomic field.
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PMID:New aspects on angiotensin-converting enzyme: from gene to disease. 1200 16

Approximately 2000 patients underwent pulmonary thromboendarterectomy (PTE) to date at University of California, San Diego. We retrospectively reviewed the clinicopathologic manifestations of 200 consecutive PTE cases from June 2004 to February 2006 with an emphasis on the histopathologic spectrum of chronic thromboembolic disease. Pathology reports and all histologic sections of study cases were examined. Pertinent clinical data were obtained from operative reports and medical records. In the study group, there were 2 cases (1 man, 1 woman) of pulmonary artery sarcomas and 1 case of metastatic tumor emboli from a testicular germ cell tumor. Two patients (both women) showed histologic evidence of arteritis without clinically apparent systemic vasculitis. The remaining 195 PTE patients with chronic thromboembolic disease consisted of 97 women and 98 men with a mean age of 52 (range, 17-83) and 51 (range, 16-82), respectively. Bilateral PTE was performed in 191, and unilateral PTE was performed in 4 (right and left, 2 each) patients. History of deep vein thrombosis was noted in 38.5%, and coagulation abnormalities were documented in 16.4% of these 195 cases. Grossly, the volumes of PTE specimens were greater in men than in women and on the right side than on the left in both men and women. Microscopically, the thrombi were recent fibrinous clot in 0.8%, mixed fibrinous and organizing in 45%, and old organized in 54.2% of specimens. Inflammation within the thrombi was usually mild but moderate and severe inflammation was found in 13.4% and 1.3% of specimens, respectively. Exuberant epithelioid granulomas were seen within the thrombi in one patient who had a history of sarcoidosis. Collections of foamy histiocytes and/or cholesterol clefts were found in 45%, and calcification was present in 11.5% of specimens. One case revealed diffuse myofibroblastic proliferation in a highly inflammatory background containing numerous plasma cells, reminiscent of inflammatory myofibroblastic tumor. In summary, pathology of PTE specimens in our study group encompassed remodeling of thrombi at various stages with variable degrees of inflammation and cellularity, granulomas associated with sarcoidosis, a rare case showing features of inflammatory myofibroblastic tumor, primary or metastatic malignancy, and isolated pulmonary arteritis.
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PMID:Pulmonary thromboendarterectomy: a clinicopathologic study of 200 consecutive pulmonary thromboendarterectomy cases in one institution. 1735 Jun 67

We depict a case of a 32 year old Mediterranean man, presenting with pulmonary embolism, and diffuse arterial thrombosis of the lower extremities. CT angiography revealed bilateral pulmonary artery occlusions and a mediastinal lymphadenopathy. Duplex Ultrasound of the lower extremities showed no deep venous thrombosis, but occluded popliteal arteries bilaterally with extension to the right distal superficial femoral artery. Mediastinoscopy with hilar lymph node biopsy showed noncaseating granulomas consistent with sarcoidosis. Thrombophilia profile revealed factor II, MTHFR, and factor XIII gene mutations with markedly elevated homocysteine level of 139 mumol/l. This is an atypical rare case of sarcoidosis presenting with pulmonary embolism and multiple arterial thrombosis.
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PMID:Unusual presentation of a sarcoid patient: multiple arterial and venous thrombosis with chest lymphadenopathy. 1879 62

In this article, we present a rare case of calcified deep vein thrombosis in a 42-year-old female patient with frequent relapses of pulmonary sarcoidosis since 1995, for which she was on maintenance therapy with corticosteroids and with consequential secondary diabetes. Recent femoral vein thrombosis was diagnosed with color Doppler in 2012. At the same time, calcified occlusive thrombus in vena cava inferior from the level of renal vein to the confluence of hepatic veins was diagnosed on abdominal multi-slice computed tomography (MSCT). Digital subtraction venography (DSV) revealed a well-developed collateral circulation through the paravertebral veins, azygos and hemiazygos vein. There were no risk factors for thrombosis other than sarcoidosis and diabetes. Deep vein thrombosis is rarely described with sarcoidosis, but according to literature reports, it usually appears as a recurrence and simultaneously at multiple locations. According to the current knowledge, we cannot say for sure whether it is a disease with an increased risk of deep vein thrombosis or there is a combination of multiple risk factors present simultaneously.
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PMID:[Calcified deep vein thrombosis in a patient with recurrent deep vein thrombosis and sarcoidosis]. 2497 86

PATIENT PRESENTATION AND FOLLOW-UP: The patient was a 54-year-old man who presented with mild dyspnoea, a persistent cough and "velcro" crackles. He worked as a carpenter and smoked (10 pack-years) until 14 years ago. He had arterial hypertension and suffered a deep vein thrombosis 2 years ago. His lung function was impaired with an FVC of 70% and DLCO of 43%.
Sarcoidosis Vasc Diffuse Lung Dis 2015 Aug 03
PMID:IPF, comorbidities and management implications: Patient case 1. 2623 40

We present a case of an adult female with a past history of pulmonary sarcoidosis who presented with fever, night sweats, profound fatigue, and LUQ abdominal pain. Sarcoidosis is an afebrile disorder (excluding Lofgren's syndrome, Heerfordt's syndrome or neurosarcoidosis). Therefore, the presence of fever with sarcoidosis should suggest infection, usually viral, or lymphoma. Sarcoidosis-lymphoma syndrome describes the evolution of a lymphoma in long standing sarcoidosis. Fever aside, possible lymphoma is suggested by otherwise unexplained fever, pleural unilateral effusion, highly elevated ESR or ferritin levels. In this case, a viral etiology was suggested because of atypical lymphocytosis and mildly elevated transaminases. In this patient, CMV IgM titers and elevated CMV PCR viral load confirmed the diagnosis of CMV infectious mononucleosis with lung and liver involvement. In this case CMV infectious mononucleosis was accompanied by procoagulant activity which resulted a DVT, pulmonary emboli and splenic infarct. We believe this to be the first reported case of CMV infectious mononucleosis splenic infarct in a patient with a history of sarcoidosis.
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PMID:Sarcoidosis with fever and a splenic infarct due to CMV or lymphoma? 2870 67

Etiologic diagnosis of an eosinophilic pleural effusion (EPE) presents a diagnostic challenge when intrapleural air and blood have been ruled out as its proximate causes. Among the causes of EPE, those that require immunosuppression for the underlying disease include connective tissue diseases, sarcoidosis, vasculitis, and eosinophilic pneumonia. We present a case of clinically suspected Behcet's syndrome based on a 10-year history of recurrent multiple oral ulcers and human leukocyte antigen-B51 positivity who presented with only an EPE. Computed tomography pulmonary angiogram ruled out central thoracic vein thrombosis but was inconclusive in ruling out a subsegmental pulmonary embolism. The patient declined immunosuppressants and while on follow-up developed bilateral extensive acute lower limb deep venous thrombosis and pulmonary embolism. Upper infrarenal inferior vena cava demonstrated chronic thrombosis suggestive of its antecedent role in pulmonary embolism-related EPE during the first instance. Behcet's syndrome-related EPE can be associated with venous thromboembolism, and immunosuppressive therapy prevents the subsequent thrombotic episodes.
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PMID:To immunosuppress or not: Behcet's syndrome presenting as an eosinophilic pleural effusion. 2886 32

Chylothorax presents as exudate with lymphocytic predominance and high triglyceride-low LDH levels, usually due to a traumatic disruption of the thoracic duct, possibly iatrogenic. Other causes include malignancy, sarcoidosis, goiter, AIDS, or tuberculosis. Here we present a case of a 66-year-old male who came in with cough and shortness of breath for few weeks. A week earlier, at an ED visit, he was diagnosed with pneumonia based on CT angiogram of the chest without contrast that showed bilateral pleural effusion and bilateral pulmonary infiltrates. The CT-guided placement of bilateral chest tube drained 1160 cc of creamy yellow fluid on the right and 1200 cc of creamy yellow fluid on the left. CT chest/abdomen/pelvis showed bilateral ground-glass opacities within the lungs and possible bony metastasis. A whole-body bone scan showed multiple bony metastatic lesions throughout the skeleton. IR guided bone biopsy suggested upper GI or pancreaticobiliary cancer. Venous ultrasound with Doppler of left upper extremity showed findings suggestive of a nonocclusive DVT of proximal/mid left subclavian vein which is difficult to compress. Eventually, malignancy-related DVT of the left subclavian/brachiocephalic vein was identified as the possible etiology for the bilateral chylothorax.
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PMID:Bilateral Chylothorax as a Unique Presentation of Pancreaticobiliary or Upper Gastrointestinal Cancer. 3135 38