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)

We report the case of a 22-year-old obese woman with severe protein S deficiency, probably genetic in nature, associated with recurrent venous thrombosis. Protein S deficiency is a rather rare disease: it may be an inherited, either homozygous (purpura fulminans at neonatal age), heterozygous, or acquired disorder. The thrombophilic state may be manifested as deep vein thrombosis or thrombophlebitis of the superficial veins with a high risk of pulmonary embolism in the young, and it is often exacerbated by pregnancy. In our case, the presenting event, bilateral deep venous (iliac-femoral) thrombosis complicated by disseminated intravascular coagulation, had occurred when the patient was 13 years old. We started long-term therapy with oral coagulants, i.e. warfarin even if the latter may cause skin necrosis ("warfarin dermatitis") in some patients with protein S deficiency. The clinician must consider protein S deficiency in cases of recurrent thrombosis, particularly in young patients: the importance of early implementation of long-term preventive therapy should not be underestimated.
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PMID:[Protein S deficiency and thrombophilia: presentation of a clinical case and review of the literature]. 794 92

A 41-year-old woman underwent medical examination for superficial thrombophlebitis of both lower legs. Incidentally a chronic myelogenous leukemia was diagnosed and chemotherapeutically treated. Three weeks after the first attendance the patient again suffered superficial thrombophlebitides of all extremities. Clinically she exhibited symptoms of recurrent mild pulmonary embolization. Contrast venography revealed no signs of deep venous thrombosis of legs, pelvis, or cava inferior. Despite continuous full-dose intravenous heparin administration the patient died, with signs of fulminant pulmonary embolization. Surprisingly, necropsy revealed a complete thrombotic occlusion of the pulmonary arterial system caused by pulmonary arteritis with signs of recurrent pulmonary embolization from a parietal truncus pulmonalis thrombosis. In addition, an appositional growth of parietal thrombi central from peripheral arterial ramifications had occurred. Simultaneously, superficial thrombophlebitis of all extremities was observed without any additional signs of general vasculitis. There was no strong evidence for a causal relationship between the chronic myelogenous leukemia and pulmonary arteritis nor for any other underlying systemic disorder. Therefore we consider the pulmonary arteritis a possibly primary one. This very rare disease is discussed with respect to the literature.
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PMID:Pulmonary arteritis with pulmonary arterial thrombosis and recurrent endopulmonary embolization. 837 50

Budd-Chiari syndrome is a rare disease, but there are many known causes. Recent studies showed that it can be an acquired lesion resulting from thrombosis in some elderly patients. We report a 74-year-old man with Budd-Chiari syndrome attributed to chronic deep venous thrombosis and alcoholic liver cirrhosis. When he was aged 45 years, stasis ulcers of the lower extremities appeared. Cerebral infarction and left hemiparesis occurred at age 71. Ultrasonography, venacavography, and three-dimensional-magnetic resonance imaging on admission demonstrated total obstruction of the inferior vena cava with several massive thrombi and developed collateral vessels. Although the etiology of the thrombosis remained obscure, we made some speculative assumptions that chronic disseminated intravascular coagulation (which is frequently observed in cirrhosis) or hereditary coagulopathy could be involved, from his familial history of thrombotic phenomena and a severe deficiency of clotting inhibitors. Despite the high mortality of untreated Budd-Chiari syndrome reported in previous studies, this patient had been alive for about 30 years from the suspected onset.
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PMID:Aged Budd-Chiari syndrome attributed to chronic deep venous thrombosis with alcoholic liver cirrhosis. 1053 95

Pulmonary embolism (PE) was believed to be a rare disease and often misdiagnosed in Thailand. Only a few cases of PE in Thai patients have been reported. The purpose of this study was to describe the characteristics of history, physical examination and laboratory investigations in Thai patients with PE. Forty-nine patients diagnosed as PE in Phramongkutklao Hospital between 1994 and 1998 were included in the study. All patients underwent complete history, physical examination and appropriate laboratory studies. The mean age of this patient group was 53 years. Thirty-four per cent of these patients were first suspected of lung embolism while the others were misdiagnosed as congestive heart failure, myocardial infarction, pneumonia or septic shock. The most common syndrome was isolated dyspnea. Interestingly, chronic thromboembolic pulmonary hypertension which is uncommonly found in western countries was diagnosed in 12 per cent of our patients. Dyspnea, pleuritic pain, leg swelling, cough, tachypnea, tachycardia and increased pulmonary component of second heart sound were common symptoms and signs. A high-probability ventilation/perfusion lung scan and deep vein thrombosis were demonstrated in 93 per cent and 55 per cent of our patients, respectively. The mortality rate was 10 per cent.
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PMID:Clinical and laboratory findings in patients with pulmonary embolism in Phramongkutklao Hospital. 1125 85

Axillary and/or subclavian vein thrombosis is a relatively rare disease, constituting about 2% of all cases of deep venous thrombosis (DVT). We report on a patient who presented with axillary-subclavian vein thrombosis and had metastatic prostatic adenocarcinoma.
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PMID:Prostatic adenocarcinoma masquerading as lymphoma and presentation with axillary-subclavian vein thrombosis. 1268 19

Lemierre syndrome is a rare disease, which was life-threatening before the antibiotics era. We report here two cases with favorable outcome. Clinical features are stereotypic: tonsillis, cervical pain revealing deep vein thrombosis, and pulmonary septic metastasis. The most frequent causal germ on blood cultures is Fusobacterium necrophorum but other anaerobial bacteries can be found. Cervical Doppler-ultrasonography, and thoracic tomodensitometry are useful. Medical treatment is antibiotic therapy and anticoagulation.
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PMID:[Lemierre syndrome: unusual, but still possible]. 1459 18

Deep venous thrombosis is a rare disease in children under the age of 18, with an estimated incidence of 1/100,000 per year in Hungary. Its typical localization in children is in the extremities, usually occurring in newborns and in teenagers. Both congenital and acquired risk factors can be in the background. Although it is a rarity, we should think of it, because late diagnosis can cause life-threatening conditions like pulmonary embolism or central nervous system thrombosis. Detailed medical history can help the diagnosis. Etiology, possible congenital and acquired risk factors, as well as diagnostic and therapeutic options are discussed through three cases of teenage children. Diagnostic difficulties of deep venous thrombosis in childhood are the following: the occurrence is rarer than in adulthood therefore it is often forgotten as a possible diagnosis, coagulation parameters are age-dependent, and diagnosis with imaging techniques is more difficult.
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PMID:[Large deep venous thrombosis in childhood--three cases]. 2082 79

Our objective is to report a rare coexistence of Parry-Romberg disease and ischemic stroke. Here, we report the case of a 34-year-old woman with Parry-Romberg syndrome who developed cerebral infarction. This patient developed sudden left-sided weakness and was admitted to our hospital. Magnetic resonance imaging revealed acute cerebral infarction in the posterior limb of the right internal capsule. The patient had been diagnosed with Parry-Romberg syndrome at the age of 12, and she had a history of migraine without aura. Transesophageal echocardiography revealed a patent foramen ovale, but no atrial septal aneurysm or deep vein thrombosis was observed in the lower extremities. She was treated with 200 mg of aspirin and 10 mg of atorvastatin. Her symptoms gradually improved, and she was discharged 10 days after admission. Parry-Romberg syndrome is a rare disease of progressive hemifacial atrophy with unknown etiology. The potential risk factors for ischemic stroke in Parry-Romberg syndrome include ipsilateral cerebrovascular abnormality or migraine. In addition, patent foramen ovale was identified as a concomitant risk factor in our case.
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PMID:Cerebral infarction in a case of Parry-Romberg syndrome. 2366 60

Portal vein thrombosis refers to an obstruction of blood flow in the portal vein; this rare disease can be both local and systemic. Local risk factors, accounting for about 70% of cases, can be abdominal cancers, inflammatory of infective diseases, surgical procedures or cirrhosis. A 62-year-old man, affected by hypertension and taking acetylsalicylic acid after a myocardial infarction in 1994, developed deep venous thrombosis on the right leg. Six months later the patient was admitted to the emergency unit due to abdominal pain. A CT scan revealed the presence of a complete splanchnic vein thrombosis and a primary tumor on the right kidney. The patient was treated with total parenteral nutrition and intravenous solution of heparin sodium first and then, because of occurrence of allergy, fondaparinux, with improvement of the abdominal pain. Subsequently he underwent right radical nephrectomy.
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PMID:Portal vein thrombosis with renal cell carcinoma: a case report. 2379 64

We describe a rare case of deep vein thrombosis (DVT) in children, highlight the importance of early diagnosis of rare disease with potential complications. In a 5 year old boy presented with persistent leg pain without any obvious cause. Detailed investigation led to diagnosis of DVT. As there are common differential diagnoses for leg pain in children, pediatricians usually have a low index of suspicious of DVT in children. This case highlight that paediatricians must consider DVT in their differential diagnosis when children present with leg pain.
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PMID:Deep vein thrombosis in children. 2390 67


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