scholarly journals Ilio-femoral venous thrombosis with hereditary antithrombin deficiency: a case report of rare thrombotic disease and successful treatment with catheter directed thrombolysis

2020 ◽  
Author(s):  
Hirokazu Miyashita ◽  
Kazuki Tobita ◽  
Eriko Morishita ◽  
Shigeru Saito
Keyword(s):  
Venous Thrombosis ◽  
Symptomatic Relief ◽  
Treatment Options ◽  
Intravenous Thrombolysis ◽  
Venous Intervention ◽  
Leg Pain ◽  
Interventional Treatment ◽  
Antithrombin Deficiency ◽  
Catheter Directed Thrombolysis ◽  
At Deficiency

Abstract Background Hereditary antithrombin (AT) deficiency is an uncommon autosomal dominant thrombogenic disorder, which can cause venous thromboembolism (VTE). Although conservative treatment options for hereditary AT deficiency-associated VTE such as anticoagulation (warfarin, direct oral anticoagulant, or heparin), intravenous thrombolysis, and recombinant AT are well known, interventional treatment options have not been reported so far. Case summary A 19-year-old man with a family history of thrombogenic diseases, referred to our hospital with left leg pain, was diagnosed with AT deficiency-associated VTE. In the absence of symptomatic relief with intravenous thrombolysis and anticoagulation, he received venous intervention and catheter directed thrombolysis (CDT) for 4 days for left iliac venous thrombosis. Following a second venous intervention, venous thrombus disappeared almost entirely on cross-sectional imaging, and his symptoms improved. He was discharged on apixaban and has been recurrence-free for one and a half years. Discussion This case presents CDT and maintenance therapy with apixaban as possible treatment options for VTE in patients with hereditary AT deficiency, especially following failure of conservative therapy. Individual risks and benefits should be considered when CDT is performed for acute VTE in patients with AT deficiency.

Risk factors of postthrombotic syndrome before and after deep venous thrombosis treatment

2016 ◽  
Vol 32 (6) ◽  
pp. 384-389 ◽  
Author(s):  
Rob HW Strijkers ◽  
Mark AF de Wolf ◽  
Cees HA Wittens
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Treatment Options ◽  
Postthrombotic Syndrome ◽  
Factor X ◽  
Catheter Directed Thrombolysis ◽  
Before And After ◽  
Patient Selection Criteria ◽  
The Moment

Postthrombotic syndrome is the most common complication after deep venous thrombosis. Postthrombotic syndrome is a debilitating disease and associated with decreased quality of life and high healthcare costs. Postthrombotic syndrome is a chronic disease, and causative treatment options are limited. Prevention of postthrombotic syndrome is therefore very important. Not all patients develop postthrombotic syndrome. Risk factors have been identified to try to predict the risk of developing postthrombotic syndrome. Age, gender, and recurrent deep venous thrombosis are factors that cannot be changed. Deep venous thrombosis location and extent seem to predict severity of postthrombotic syndrome and are potentially suitable as patient selection criteria. Residual thrombosis and reflux are known to increase the incidence of postthrombotic syndrome, but are of limited use. More recently developed treatment options for deep venous thrombosis, such as new oral factor X inhibitors and catheter-directed thrombolysis, are available at the moment. Catheter-directed thrombolysis shows promising results in reducing the incidence of postthrombotic syndrome after deep venous thrombosis. The role of new oral factor X inhibitors in preventing postthrombotic syndrome is still to be determined.

Phlegmasia cerulea dolens – an uncommon but alarming manifestation of deep vein thrombosis

VASA ◽  
2020 ◽  
Vol 49 (5) ◽  
pp. 422-426
Author(s):  
Manuela Nickler ◽  
Sebastian Haubitz ◽  
Adriana Méndez ◽  
Martin Gissler ◽  
Peter Stierli ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Bleeding Risk ◽  
Venous Intervention ◽  
Aggressive Treatment ◽  
Vein Thrombosis ◽  
Prompt Treatment ◽  
Surgical Thrombectomy ◽  
Deep Vein ◽  
Phlegmasia Cerulea Dolens

Summary: In phlegmasia cerulea dolens (PCD), immediate diagnosis and prompt treatment is crucial for limb salvage. Aggressive treatment options including venous intervention, thrombolysis and/or surgical thrombectomy should be considered. Due to the lack of data, the most appropriate intervention depends upon etiology of PCD, clinical presentation and patient’s bleeding risk.

Idiopathic venous thrombosis

2006 ◽  
Vol 26 (01) ◽  
pp. 52-54 ◽  
Author(s):  
P. A. Kyrle
Keyword(s):  
Chronic Disease ◽  
Venous Thrombosis ◽  
Vitamin K ◽  
Clinical Benefit ◽  
Plasma Levels ◽  
Vitamin K Antagonists ◽  
Antithrombin Deficiency ◽  
Optimal Duration ◽  
Risk Of Treatment

SummaryVenous thrombosis is a chronic disease with a recurrence rate of approximately 30% within 5-8 years. The optimal duration of secondary thromboprophylaxis in these patients entails balancing the risk of recurrence against the risk of treatment-associated bleeding. There is agreement that patients with a first idiopathic venous thrombosis should receive vitamin K antagonists for at least 3-6 months. Convincing trials showing a clinical benefit in terms of morbidity or mortality with respect to expansion of anticoagulation beyond 6 months are lacking. Nevertheless, some subgroups of patients with venous thrombosis may benefit from indefinite anticoagulation. Thus, patients with antithrombin deficiency, combined or homozygous defects, more than one unprovoked episode of thrombosis, the lupus anticoagulant or high factor VIII plasma levels are good candidates for long-term prevention.

The Molecular Basis of Antithrombin Deficiency in Belgian and Dutch Families

1998 ◽  
Vol 80 (09) ◽  
pp. 376-381 ◽  
Author(s):  
W. Lissens ◽  
S. Seneca ◽  
P. Capel ◽  
B. Chatelain ◽  
P. Meeus ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Gene Deletion ◽  
Direct Sequencing ◽  
Genetic Defect ◽  
Polymorphism Analysis ◽  
Type I ◽  
Type Ii ◽  
Antithrombin Deficiency ◽  
Venous Thromboembolic Events ◽  
At Deficiency

SummaryThe molecular basis of hereditary antithrombin (AT) deficiency has been investigated in ten Belgian and three Dutch unrelated kindreds. Eleven of these families had a quantitative or type I AT deficiency, with a history of major venous thromboembolic events in different affected members. In the other two families a qualitative or type II AT deficiency was occasionally diagnosed.DNA studies of the AT gene were performed, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis, followed by direct sequencing of the seven exons and intronexon junction regions. Six novel point mutations were identified: four missense, one nonsense mutation and a single nucleotide deletion near the reactive site, causing a frameshift with premature translation termination. In two kindreds the underlying genetic defect was caused by a whole gene deletion, known as a rare cause of AT deficiency. In these cases, Southern blot and polymorphism analysis of different parts of the AT gene proved useful for diagnosis. In another kindred a partial gene deletion spanning 698 basepairs could precisely be determined to a part of intron 3B and exon 4. In two type I and in both type II AT deficient families a previously reported mutation was identified. In all cases, the affected individuals were heterozygous for the genetic defect.

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