Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019079 (hemoptysis)
 6,129 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A congenital deficiency of factor VII and protein C was found in a 21-year-old female suffering from recurrent and progressive attacks of dyspnea and hemoptysis over the last four years. She has been followed in our Department since the age of 17 under a diagnosis of peripheral pulmonary artery stenosis and pulmonary hypertension as confirmed by cardiac catheterization and angiography. Prolonged prothrombin time repeatedly examined during this time period prompted us to perform detailed coagulation studies. We found that factor VII and protein C were both half normal in activity as well as in antigen. Three other members of her immediate family were also found to be affected with this combined deficiency. Since the genes encoding factor VII and protein C are located in different chromosomes, the 13th and the second chromosomes, respectively, expression of the combined hereditary deficiency is a random and very rare association on the basis of frequencies of 1:50,000 for factor VII and 1:16,000 for protein C deficiencies.
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PMID:Combined factor VII and protein C deficiency found in a patient with peripheral pulmonary artery stenosis accompanied by progressive pulmonary hypertension and hemoptysis. 318 53

A 45-year-old man was admitted with left chest pain and hemoptysis. Chest CT on admission showed multiple areas of wedge-shaped consolidation in both lung fields. A perfusion lung scintigram showed bilateral deficits in both lungs, whereas a ventilation scintigram was normal. The serum concentration and the functional activity of protein C were 41% and 42%, respectively. The same results were obtained from studies of the patient's mother and two sons, which indicated that this was a case of congenital protein C deficiency with pulmonary infarction.
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PMID:[Congenital protein C deficiency with pulmonary infarction]. 773 77

The patient was a 41-year-old female with chronic thromboembolism. She was admitted to an affiliated hospital with exertional dyspnea, leg swelling, and hemoptysis, and she was treated medically with tissue plasminogen activator and warfarin therapy. When transferred to our hospital, she was oxygen-dependent with severe dyspnea. A pulmonary arteriogram showed occlusion and stenosis of the pulmonary arteries. Cardiac catheterization revealed marked pulmonary hypertension. The lung perfusion scintigram showedmultiple defects in the right and left lungs. Preoperative laboratory data showed a markedly decreased protein C antigen level. Magnetic resonance angiography showed that a myoma uteri compressed the pelvic vein and that she had deep vein occlusion of the left leg. After the administration of an epoprostenol infusion and the insertion of an inferior vena cava filter, she underwent an operation. Under deep hypothermia, the bilateral pulmonary artery was opened and an endarterectomy was performed during intermittent circulatory arrest. After surgery, her pulmonary vascular resistance was in the normal range. Her New York Heart Association functional classification changed from class IV to class I. She has been in good condition for 7 years since the surgery.
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PMID:A case report of pulmonary thromboendarterectomy for chronic thromboembolism in a patient with protein C deficiency. 2390 11

BACKGROUND Deep vein thrombosis (DVT) is a type of venous thromboembolism with diverse clinical and environmental risk factors. Very few cases of DVT with multiple high risk factors have been reported. Here, we report an uncommon DVT case with multiple etiological causes, including appendicitis/appendectomy, morbid obesity, immobilization, positive phosphatidylserine IgG, and heterozygous factor V Leiden mutation. CASE REPORT A 43-year-old female was brought to the emergency room because of 2-week history of pain and swelling and ultrasound revealing evidence of DVT in the right leg. One month ago, she underwent an exploratory laparotomy because of subacute appendicitis. After surgery, the patient stayed at home in bed with very limited activity. She did not have a cough, hemoptysis, chest pain, or shortness of breath. She was morbidly obese, and had a past medical history of diabetes, hypertension, and hyperlipidemia. A full coagulation workup was completed, including Protein C, Protein S, and antiphospholipid antibody, as well as factor V and prothrombin gene mutation screen. Her D-dimer was positive. Computed tomography (CT) angiography of the lungs ruled out major emboli but was unable to rule out minor emboli. A heterozygous factor V Leiden R506Q mutation was detected. Of interest was a significantly positive phosphatidylserine IgG with a value of over 42. She was started with enoxaparin (120 mg, twice a day), and warfarin was added on day 2 when pulmonary embolism was ruled out by CT angiography. The International Normalized Ratio (INR) was monitored daily to adjust warfarin dose. CONCLUSIONS Multiple etiological factors present in this patient may have contributed to her lower-limb DVT, including appendicitis/appendectomy, morbid obesity, immobilization, positive phosphatidylserine IgG, and factor V Leiden mutation. Therefore, it is important to follow the complete workup for hypercoagulable states. This can help with diagnosis and therapy, and also give insight into the pathogenicity, which can help with prevention of recurrence and severe complications of DVT.
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PMID:An Uncommon Case of Lower Limb Deep Vein Thrombosis with Multiple Etiological Causes. 2834 60