scholarly journals Combined Central Retinal Artery and Vein Occlusion Associated with Factor V Leiden Mutation and Treated with Hyperbaric Oxygen

2015 ◽  
Vol 6 (3) ◽  
pp. 462-468 ◽  
Author(s):  
José Alberto Lemos ◽  
Carla Teixeira ◽  
Rui Carvalho ◽  
Tiago Fernandes
Keyword(s):  
Visual Acuity ◽  
Hyperbaric Oxygen ◽  
Factor V Leiden ◽  
Central Retinal Artery ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Occlusion ◽  
First Case ◽  
Retinal Artery ◽  
Fvl Mutation

Background: Combined central retinal artery occlusion (CRAO) and central retinal vein occlusion (CRVO) is an uncommon retinal vascular disease which causes sudden visual acuity loss and is associated with poor prognosis and the development of severe complications. We report a very rare case of combined CRAO and CRVO in a patient with factor V Leiden (FVL) mutation (only 3 cases published). To our knowledge, this is the first case of combined CRAO and CRVO treated with hyperbaric oxygen therapy (HBOT). Case and Results: A 49-year-old woman presented with complaints of sudden loss of vision in her left eye (LE), with best corrected visual acuity (BCVA) of 1/20. A complete ophthalmic evaluation with fundus angiography showed combined CRAO and CRVO. The patient was urgently treated with HBOT (she completed a total of 9 sessions in 7 days), with marked visual acuity and angiographic improvement (BCVA of 10/10). Forty-five days later, she developed a new LE CRVO, and BCVA decreased to 5/10 and later to <1/20 because of significant macular edema. A detailed investigation showed an abnormal resistance to activated protein C, and a genetic study showed homozygosity for FVL mutation. The patient was submitted to 3 monthly injections of 1.25 mg bevacizumab. After 10 months, the patient is in a stable condition with BCVA of 6/10. Conclusions: Combined CRAO and CRVO in young adults should be investigated thoroughly for embolic sources, thrombophilic disorders and local ocular conditions. This is the first case of this severe disease that was treated with HBOT, and the visual result was very good.

scholarly journals Clinical Features of Combined Central Retinal Artery and Vein Occlusion

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Hao Wang ◽  
Yongye Chang ◽  
Fen Zhang ◽  
Rong Yang ◽  
Suxia Yan ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Clinical Features ◽  
Early Stage ◽  
Central Retinal Artery Occlusion ◽  
Retinal Hemorrhage ◽  
Central Retinal Artery ◽  
Fundus Fluorescein Angiography ◽  
Vein Occlusion ◽  
Retinal Artery

Purpose. To describe the clinical features of combined central retinal artery and vein occlusion (CCRAVO). Methods. This retrospective study included 33 admitted patients (33 eyes) who had CCRAVO. Clinical data, such as age, gender, best-corrected visual acuity (BCVA), intraocular pressure (IOP), findings on fundus color photography and fundus fluorescein angiography (FFA), and information about follow-up, were collected and analyzed. Results. The age of the patients with CCRAVO ranged from 22 to 78 years, with a mean of 48.8 ± 14.1 years. At presentation, BCVA of the involved eyes ranged from no light perception (NLP) to 20/20. In addition, 45.5% (15/33) of the eyes had BCVA of finger counting (FC) or below, whereas 12.1% (4/33) had BCVA of 20/60 or above. The IOP was lower in the involved eyes than in the fellow eyes (15.0 ± 3.0 mmHg vs. 16.4 ± 2.3 mmHg, p=0.03). Ophthalmoscopic examination showed changes in both central retinal artery occlusion (CRAO) and central retinal vein occlusion (CRVO), including retinal hemorrhage, retinal ischemic whitening, optic disc hyperemia and/or edema, venous dilation and tortuosity, cotton wool spot (CWS), and Roth’s spot. FFA showed prolonged arm-to-retina time (ART) and retinal arteriovenous passage time (RAP) (17.1 ± 4.9 s and 12.1 ± 8.8 s, respectively). Capillary nonperfusion (CNP) was seen in 21 eyes (63.6%), and in 14 (42.2%) of these, CNP was larger than 10 disc areas. At 2 to 3 weeks after presentation, BCVA improved in 23 eyes (71.9%) and further deteriorated in 5 eyes (15.6%). Retinal ischemic whitening improved in more than half of the eyes, whereas retinal hemorrhage increased in nearly half of the eyes. Follow-up ranged from 6 to 56 months. Seven patients were lost to follow-up. At final follow-up, six eyes had a visual acuity of 20/60 or greater, but 6 eyes had FC or worse. Four eyes developed neovascularization on follow-up. Conclusion. CCRAVO is a sight-threatening entity. Manifestations of CRAO and CRVO can be seen simultaneously in the early stage of disease, and CRVO may play a more important role in the development of CCRAVO.

Effect of FV-Leiden Mutation and Antiphospholipid Syndrome on Thethrombin GenerationTest.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3506-3506
Author(s):  
Ferial Peyvandi ◽  
Wolfgang Miesbach ◽  
Wolfgang Wegert ◽  
Inge Scharrer
Keyword(s):  
Antiphospholipid Syndrome ◽  
Thrombin Generation ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Platelet Poor Plasma ◽  
Time To Peak ◽  
Concentration Peak ◽  
Fvl Mutation

Abstract Introduction: The incidence of Factor V Leiden mutation (Arg 506 Gln) is significantly high in patients with venous and arterial thrombosis. In patients with antiphospholipid syndrome (APS), the FVL mutation may play a major role in the occurrence of thrombosis. The aim of this study was to demonstrate that an increased Endogenous Thrombin Potential (ETP) may be an important mechanism for the thrombotic risk associated with FVL and / or APS and to know if the FVL mutation would increase the risk of thrombosis in patients with APS. Additionally, we tested if fluorometric determination of ETP( area under the curve), thrombin generation velocity (PEAK) and TIME TO PEAK (time from starting to reaching the peak), is suitable to determine changes in haemostatic parameters. Methods and patients: We measured the thrombin generation in 120 patients (67F, 53M) with a median age of 40 year categorized in 3 groups of 40 patients each:(1) either heterozygous or homozygous FVL mutation (14F, 26M of whom 29 were heterozygous and 11 were homozygous) (2) presence of antiphospholipid antibodies (aPL) (20F, 20M) and (3) a combination of both (33F,7M). Three characterizing thrombin generation parameters were measured: ETP, PEAK and TIME TO PEAK. Platelet poor plasma samples (PPP) were derived from citrated blood. In a microtiter plate, we used different concentrations of TF with phospholipids after adding PRP(platelet poor plasma) and buffer. The reaction was started after adding substrate solution. Fluorometer was the Fluoroskan Ascent Type 374. Results: Using four concentrations (Innovin dilutions 1:600, 1:6.000, 1:50.000 and 1:500.000) of TF, the following results (ETP units = relative fluorescence units or RFU; PEAK units: RFU/min; TIME TO PEAK units = min) were obtained for the 3 groups: For all patients TF 1:600 median ETP, PEAK and TIME TO PEAK were taken as 100 % because less dilution gives no further increase resp. decrease in these parameters Patients with aPL: median ETP decreased from 100 % to 36,6 % (lowest TF concentration), PEAK to 34,4 % and TIME TO PEAK increased to 218 %. Patients with FVL median ETP decreased from 100 % to 2,64 % (lowest TF concentration), PEAK to 9 % and TIME TO PEAK increased to 282 %. Patients with aPl and FVL => median ETP decreased from 100 % to 33 % (lowest TF concentration), PEAK to 30,8 % and TIME TO PEAK increased to 143 %. While there was no detectable thrombin generation in aPL patients in low concentration of TF, at the two highest concentrations the thrombin generation was comparable to same concentrations in the haemostatically normal control samples(data not shown). For those affected by FVL and aPL, the threshold of detectable thrombin generation was even shifted to lower concentrations of TF, regarding a “residual activity” of about 33 % for ETP and PEAK, as for patients with FVL. In patients with APS, TF 1:50.000 caused a thrombin generation comparable to TF 1:6.000 in haemostatically normal controls, showing a shift in coagulation factor reactability. In a physiological environment this could indicate a stronger haemostatic reaction to minor vascular lesions in patients affected by factor V Leiden mutation than in those without it. Conclusion: A thrombin generation assay utilizing lower concentrations of TF as coagulation initiating agent could be usefully performed to assess thrombophilic states due to coagulation factor mutations and /or presence of antiphospholipid antibody.

Protein-Z-Mangel bei ungeklärter Neigung zu Thrombosen, Blutungen oder Aborten

2012 ◽  
Vol 32 (S 01) ◽  
pp. S95-S97
Author(s):  
H. Radtke ◽  
A. Jainz ◽  
F.-P. Schmidt ◽  
H. Kiesewetter
Keyword(s):  
Factor V Leiden ◽  
Disease Type ◽  
Von Willebrand Disease ◽  
Bleeding Complications ◽  
Factor V ◽  
Protein Z ◽  
Factor V Leiden Mutation ◽  
Vein Occlusion ◽  
Retinal Branch Vein Occlusion ◽  
Von Willebrand

SummaryA protein Z deficiency is presumably related with a threefold risk of venous and arterial thrombosis. Mucosal bleedings and post-operative haematomas can occur more frequently. This is seen in an increased in vivo bleeding time without other plasmatic coagulation disorders or thrombopathies. Pregnancy complications, especially abortions before the 15th week of gestation, are described as well. Patients, methods: Since May 2011 the plasmatic concentration of protein Z has been tested in 684 patients of the Hämostaseologicum. Results: In 74 patients a protein Z deficiency has been found. In other 45 patients protein Z was reduced because of the intake of phenprocoumon or coumadin. Of the 74 patients with diminished protein Z concentration 39 were marginally decreased (protein Z 1000–1500 μg/l). Of the 35 patients with a protein Z concentration <1000 μg/l 12 had had a thrombosis before (6 strokes, 3 DVT or PE, 1 arterial thrombosis, 1 retinal branch vein occlusion, 1 acute hearing loss). 7 had arterial hypertension, 2 suffered from diabetes mellitus. Of the patients who had a thrombosis 6 had a heterozygous factor V Leiden mutation. 10 had a microcirculation disorder (Raynaud’s phenomenon), 4 had had bleeding complications before, 3 had a von Willebrand disease type I, 6 patients had had abortions and 4 were healthy. Of the 39 patients with protein Z concentrations between 1000 and 1500 μg/l 18 had experienced a thrombosis before (9 DVT or PE, 3 myocardial infarctions, 1 CHD, 3 strokes, 1 retinal branch vein occlusion, 1 PAOD I, 1 tinnitus). 5 additionally had arterial hypertension. 13 suffered from Raynaud’s phenomenon, of which 7 had a hypotension. Of the patients with thromboses 3 had a heterozygous factor V Leiden mutation and one a protein C deficiency. 7 patients had had an abortion before. Bleeding complications were seen in 4 patients, of which 3 suffered from von Willebrand disease type 1.

Factor V Leiden Mutation–Related Chronic Skin Ulcers

2013 ◽  
Vol 12 (1) ◽  
pp. 35-38 ◽  
Author(s):  
Kadir Kayatas ◽  
Filiz Cebeci ◽  
Cumali Karatoprak ◽  
Muhammet Benzer ◽  
Refik Demirtunç ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Skin Biopsy ◽  
Hyperbaric Oxygen ◽  
Factor V Leiden ◽  
Skin Lesions ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Woman Patient ◽  
Skin Ulcers ◽  
Chronic Skin

Chronic skin ulcers require extensive, systemic differential diagnosis; thus, they are difficult to diagnose and treat. Transient or persistent hypercoagulable states are among the rare causes of skin ulcers. Here, we present the case of a 27-year-old woman patient with recurrent, nonhealing skin ulcers of 8 years’ duration, who had been treated unsuccessfully with various medications under different diagnoses at different clinics. On admission, a skin biopsy demonstrated occlusive vasculopathy, and the search for an inherited hypercoagulable state revealed a heterozygous factor V Leiden mutation. The patient was treated with anticoagulants and hyperbaric oxygen. On treatment, the skin lesions healed and did not recur.

Factor V Leiden mutation enhances fibrin formation and dissolution in vivo in a human endotoxemia model

Blood ◽  
2010 ◽  
Vol 116 (5) ◽  
pp. 801-805 ◽  
Author(s):  
Elif Elmas ◽  
Nenad Suvajac ◽  
Bernd Jilma ◽  
Hartmut Weiler ◽  
Martin Borggrefe ◽  
...  
Keyword(s):  
Degradation Products ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Pronounced Increase ◽  
Soluble Fibrin ◽  
Fibrin Degradation Products ◽  
Endotoxemia Model ◽  
Fvl Mutation

Disseminated intravascular coagulation in sepsis is associated with microvascular thrombosis and organ dysfunction. It was expected that prothrombotic disposition such as factor V Leiden (FVL) mutation would worsen clinical outcome. Astonishingly, clinical trial and animal experimental data indicate that FVL can be associated with improved survival. This study investigated the effect of FVL on the response to endotoxin of the coagulation and fibrinolytic system in humans. Fourteen healthy male subjects without FVL and 15 healthy males with heterozygous FVL received an intravenous bolus dose of endotoxin, 2 ng/kg of body weight. Blood samples were drawn before and 1, 2, 4, 6, and 24 hours after administration of the endotoxin. Injection of endotoxin led to a more pronounced increase in soluble fibrin in patients with FVL than in controls. Patients with FVL displayed a more sustained increase in plasmin-plasmin inhibitor complex after 4, 6, and 24 hours. Patients with FVL mutation also displayed higher levels of D-dimer and fibrinogen-fibrin degradation products in plasma after 24 hours. Patients with FVL generate higher levels of soluble fibrin, which may serve as cofactor in tissue plasminogen activator–induced plasminogen activation, leading to a more sustained activation of fibrinolysis with production of more fibrinogen- and fibrin-degradation products.

scholarly journals Heterogeneous ethnic distribution of the factor v leiden mutation

1999 ◽  
Vol 22 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Rendrik F. Franco ◽  
Jacques Elion ◽  
Sidney E.B. Santos ◽  
Amélia G. Araújo ◽  
Marli H. Tavella ◽  
...  
Keyword(s):  
Activated Protein C ◽  
Factor V Leiden ◽  
Pcr Amplification ◽  
Human Populations ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Heterogeneous Distribution ◽  
Thrombotic Diseases ◽  
Risk For Thrombosis ◽  
Fvl Mutation

Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.

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