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Homozygous factor V Leiden mutation in type IV Ehlers-Danlos patient.
MedLine Citation:
PMID:  24653990     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders caused by collagen synthesis defects. Several hemostatic abnormalities have been described in EDS patients that increase the bleeding tendencies of these patients. This case report illustrates a patient with an unusual presentation of a patient with type IV EDS, platelet δ-storage pool disease and factor V Leiden mutation. Young woman having previous bilateral deep vein thrombosis and pulmonary emboli coexisting with ruptured splenic aneurysm and multiple other aneurysms now presented with myocardial infarction. Presence of factor V Leiden mutation raises the possibility that the infarct was due to acute coronary thrombosis, although coronary artery aneurysm and dissection with myocardial infarction is known to occur in vascular type EDS. This is the first report in the medical literature of factor V Leiden mutation in an EDS patient which made the management of our patient challenging with propensity to both bleeding and clotting.
Authors:
Marwan Refaat; Mostafa Hotait; Brion Winston
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  World journal of clinical cases     Volume:  2     ISSN:  2307-8960     ISO Abbreviation:  World J Clin Cases     Publication Date:  2014 Mar 
Date Detail:
Created Date:  2014-03-21     Completed Date:  2014-03-21     Revised Date:  2014-03-24    
Medline Journal Info:
Nlm Unique ID:  101618806     Medline TA:  World J Clin Cases     Country:  China    
Other Details:
Languages:  eng     Pagination:  75-7     Citation Subset:  -    
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