Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034065 (pulmonary embolism)
 14,979 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 20 year-old female, heterozygous for Factor V Leiden mutation (FVLM) is presented. Her personal history was prominent for severe anaemia during her gestation. Aetiology of anaemia was found to be hereditary spherocytosis (HS). Intrauterine foetal death had occurred at 20 weeks of gestational age. Two days after curettage, she developed pulmonary embolism (PE). This is an unusual case of pulmonary embolism and intrauterine foetal death coexisting with FVLM and/or HS. We present the case so that a general practitioner or haematologist can hardly see such cases in daily practice. Hence, a young female with PE should be screened for hypercoagulable states including FVLM or HS.
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PMID:Postoperative pulmonary embolism in a young female accompanying with Factor V Leiden mutation and hereditary sypherocytosis. 1535 20

Hereditary protein C deficiency results in a hypercoagulable state that can manifest itself as venous thrombosis and pulmonary embolism. The prevalence of this condition, even among patients with familial thrombosis, is quite low. We report a case of protein C deficiency presenting as massive pulmonary thromboembolism in a patient with hereditary spherocytosis, an uncommon hemolytic disorder not usually associated with increased thrombotic risk. A review of the literature revealed only a few cases of thrombosis associated with hereditary spherocytosis, and none of them had protein C deficiency. This makes the present case the first of its kind to be reported.
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PMID:Protein C deficiency leading to pulmonary thromboembolism in a patient with hereditary spherocytosis. 1905 57

Hereditary spherocytosis is a common form of hemolytic anemia sometimes requiring splenectomy in recalcitrant cases. The complications of splenectomy include an increased risk of thrombosis, usually presenting with deep vein thrombosis or pulmonary embolism. However, common complaints such as headache should warn clinicians of involvement in less common sites, primarily the dural venous system. The case of dural venous thrombosis in a patient with hereditary spherocytosis and splenectomy is discussed. The potential mechanisms associated with thrombosis formation in this population and its treatment are discussed.
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PMID:Dural venous thrombosis following splenectomy in a patient with hereditary spherocytosis. 1937 54

Paradoxical embolism accounts for 2% of patients who present with acute arterial embolism of extremities. We report a case of a 41 year-old male with hereditary spherocytosis who presented to the emergency department with acute limb ischaemia and pulmonary embolism. On further evaluation, he was found to have patent foramen ovale (PFO) and deep vein thrombosis (DVT), leading to paradoxical embolism. The purpose of this report is to emphasise that in a patient presenting with acute limb ischaemia without an obvious systemic arterial embolic source, an evaluation for a right-to-left shunting lesion, especially PFO, should be performed.
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PMID:Massive pulmonary embolism and acute limb ischaemia in a patient of hereditary spherocytosis and patent foramen ovale. 2061 36

Background: The clinical presentation of hereditary spherocytosis varies from no symptoms to severe hemolytic anemia requiring splenectomy. Splenectomy imposes the risk of hypercoagulability and acute pulmonary embolism. Catheter-directed thrombolysis is an established treatment for submassive pulmonary embolism in adults. However, the literature regarding its use in children is limited. Case Report: We present the case of a 12-year-old male with hereditary spherocytosis who was diagnosed with pulmonary embolism and successfully treated with catheter-directed thrombolysis. The patient was initially treated with 10.5 mg of recombinant tissue plasminogen activator (r-tPA) delivered over 8 hours. However, because of minimal clinical and hemodynamic improvement, a second course of thrombolytic was administered for an additional 24 hours (25 mg of r-tPA), and the treatment resulted in marked clinical and hemodynamic improvement. Clot resolution was confirmed via angiography. The patient was discharged on enoxaparin and with regular follow-up. One year later, the patient was asymptomatic on enoxaparin. Conclusion: This case demonstrates that catheter-based treatment of submassive pulmonary embolism restores hemodynamic stability and thus is an alternative to surgery or systemic thrombolysis, even in the pediatric setting. While catheter-directed thrombolysis is a safe and effective alternative to systemic thrombolysis, further research is needed to establish appropriate dosing and indications in the adolescent population.
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PMID:Treatment of a Child With Submassive Pulmonary Embolism Associated With Hereditary Spherocytosis Using Ultrasound-Assisted Catheter-Directed Thrombolysis. 3152 40