Recurrent deep vein thrombosis and pulmonary embolism in a young man with Klinefelterʼs syndrome and heterozygous mutation of MTHFR-677C>T and 1298A>C

2010 ◽  
Vol 21 (4) ◽  
pp. 372-375 ◽  
Author(s):  
Joel R Angel ◽  
Stacey Parker ◽  
Ryan E Sells ◽  
Ehab Atallah
2015 ◽  
Vol 28 (1) ◽  
pp. 12 ◽  
Author(s):  
Liliana Sousa Nanji ◽  
André Torres Cardoso ◽  
João Costa ◽  
António Vaz-Carneiro

<p>The standard treatment for acute deep vein thrombosis (DVT) targets to reduce immediate complications, however thrombolysis could reduce the long-term complications of post-thrombotic syndrome in the affected limb. This systematic review aimed to assess the effects of thrombolytic therapy and anticoagulation <em>versus </em>anticoagulation in people with deep vein thrombosis of the lower limb through the effects on pulmonary embolism, recurrent deep vein thrombosis, major bleeding, post-thrombotic complications, venous patency and venous function. The Cochrane Peripheral Vascular Diseases Group Trials Search Co-ordinator searched the Specialised Register (last search in April 2013) and CENTRAL (2013, Issue 4). A total of 17 randomised controlled trials (RCTs) and 1103 participants were included. In the experimental group receiving thrombolysis, complete clot lysis occurred more frequently and there was greater improvement in venous patency. The incidence of post-thrombotic syndrome decreased by a 1/3 and venous ulcers were less frequent. There were more bleeding complications and 3 strokes occurred in less recent studies, yet there seemed to be no significant effect on mortality. Data on the occurrence of pulmonary embolism and recurrent deep vein thrombosis were inconclusive. There are advantages to thrombolysis, yet the application of rigorous criteria is warranted to reduce bleeding complications. Catheter-directed thrombolysis is the current preferred method, as opposed to systemic thrombolysis in the past, and other studies comparing these procedures show that results are similar.</p><p><strong>Keywords:</strong> Randomized Controlled Trials as Topic; Thrombolytic Therapy; Venous Thrombosis.</p>


Herz ◽  
2012 ◽  
Vol 38 (3) ◽  
pp. 306-308 ◽  
Author(s):  
J.-W. Chung ◽  
J.-B. Lee ◽  
B.-H. Kim ◽  
S.-P. Hong ◽  
J.-Y. Son ◽  
...  

2017 ◽  
Vol 9 (1) ◽  
pp. e2017038 ◽  
Author(s):  
Jérôme Guison ◽  
Gilles Blaison ◽  
Oana Stoica ◽  
Remy Hurstel ◽  
Marie Favier ◽  
...  

Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a thrombocytopenic woman affected by deep vein thrombosis and pulmonary embolism leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with left lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation. Molecular study sequencing was performed after learning that her family had a history of thrombocytopenia. Previously described heterozygous mutation c-127C>A in the 5′ untranslated region (5′UTR) of the ANKRD26 gene was detected in the patient, her aunt, and her grandmother. ANKRD26-related thrombocytopenia and thrombosis are rare. This is, to our knowledge, the first case reported in the medical literature. This mutation should be screened in patients with a family history of thrombocytopenia.


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