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.

Varicella Infection May Cause Thrombosis: A Case Report

2018 ◽  
Vol 3 (3) ◽  
Keyword(s):  
Pulmonary Embolism ◽  
Anticoagulant Therapy ◽  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Skin Lesions ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Varicella Zoster

This case was presented due to development of DVT and pulmonary embolism after VZV infection and determination of Factor V Leiden mutation and activated protein C resistance. A 19-year old male patient presented with fever at the 10th day of varicella zoster virus (VZV) infection, and pruritic vesicopustular skin lesions and increased leukocyte and CRP levels. Acyclovir and ampicillin-sulbactam therapy were started. On the fourth day of hospitalization, left leg DVT and pulmonary embolism developed. Anticoagulant therapy was started. Tests revealed activated protein C resistance and Factor V Leiden mutation. The patient was discharged after the relief of symptoms with anticoagulant therapy. Thrombosis rarely develops in the course of VZV infection. It is essential to investigate the factors contributing to predisposition to thrombosis in patients with thrombosis.

Low-molecular-weight heparin-induced skin necrosis without platelet fall: a case report in pregnancy

2017 ◽  
Vol 6 (1) ◽  
Author(s):  
Emine Aydin ◽  
Esra Nuhoglu ◽  
Gökçen Orgul ◽  
Sema Can ◽  
Ozgür Deren
Keyword(s):  
Molecular Weight ◽  
Skin Necrosis ◽  
Low Molecular Weight Heparin ◽  
Factor V Leiden ◽  
Skin Lesions ◽  
Low Molecular Weight ◽  
Factor V ◽  
Prophylactic Regimen ◽  
Factor V Leiden Mutation ◽  
Dermal Cells

Abstract Background: Skin necrosis, following subcutaneously administered low-molecular-weight heparin (LMWH) is a rare but serious complication and has not been documented during pregnancy in the literature to the best of our knowledge. Therefore, we are of the opinion that reporting this case may guide clinicians when presented with such patients. Main observations: A 36-year-old woman with painful skin lesions was admitted to our clinic at 36 gestational weeks’ of her first pregnancy. There was nothing remarkable in her medical history other than using prophylactic regimen of “low-molecular-weight heparin” (enoxaparine) 4000 units anti-Xa subcutaneously because of heterozygous factor V Leiden mutation. Potential reasons of the lesions were considered to be immunological reaction between heparin and dermal cells and management considered with these findings. Conclusions: Heparin-induced skin necrosis (HISN) is a condition that should always be borne in mind when there are nonspecific results. Enoxaparine treatment during pregnancy has a rare potential risk of causing necrosis at the injection site and it is reversible with careful intervention.

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.

Thrombophilia and risk of VTE recurrence according to the age at the time of first VTE manifestation

VASA ◽  
2015 ◽  
Vol 44 (4) ◽  
pp. 313-323 ◽  
Author(s):  
Lea Weingarz ◽  
Marc Schindewolf ◽  
Jan Schwonberg ◽  
Carola Hecking ◽  
Zsuzsanna Wolf ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Cox Proportional Hazards ◽  
First Episode ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Younger Patients ◽  
Risk Of Recurrence ◽  
G20210a Mutation ◽  
Increased Risk ◽  
The Impact

Abstract. Background: Whether screening for thrombophilia is useful for patients after a first episode of venous thromboembolism (VTE) is a controversial issue. However, the impact of thrombophilia on the risk of recurrence may vary depending on the patient’s age at the time of the first VTE. Patients and methods: Of 1221 VTE patients (42 % males) registered in the MAISTHRO (MAin-ISar-THROmbosis) registry, 261 experienced VTE recurrence during a 5-year follow-up after the discontinuation of anticoagulant therapy. Results: Thrombophilia was more common among patients with VTE recurrence than those without (58.6 % vs. 50.3 %; p = 0.017). Stratifying patients by the age at the time of their initial VTE, Cox proportional hazards analyses adjusted for age, sex and the presence or absence of established risk factors revealed a heterozygous prothrombin (PT) G20210A mutation (hazard ratio (HR) 2.65; 95 %-confidence interval (CI) 1.71 - 4.12; p < 0.001), homozygosity/double heterozygosity for the factor V Leiden and/or PT mutation (HR 2.35; 95 %-CI 1.09 - 5.07, p = 0.030), and an antithrombin deficiency (HR 2.12; 95 %-CI 1.12 - 4.10; p = 0.021) to predict recurrent VTE in patients aged 40 years or older, whereas lupus anticoagulants (HR 3.05; 95%-CI 1.40 - 6.66; p = 0.005) increased the risk of recurrence in younger patients. Subgroup analyses revealed an increased risk of recurrence for a heterozygous factor V Leiden mutation only in young females without hormonal treatment whereas the predictive value of a heterozygous PT mutation was restricted to males over the age of 40 years. Conclusions: Our data do not support a preference of younger patients for thrombophilia testing after a first venous thromboembolic event.

Coagulation Factor V Leiden Mutation Was Detected in the Patients with Activated Protein C Resistance in Thailand

1998 ◽  
Vol 80 (08) ◽  
pp. 344-345 ◽  
Author(s):  
Pasra Arnutti ◽  
Motofumi Hiyoshi ◽  
Wichai Prayoonwiwat ◽  
Oytip Nathalang ◽  
Chamaiporn Suwanasophon ◽  
...  
Keyword(s):  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Coagulation Factor V

Low Prevalence of the Factor V Leiden Mutation Among “Severe” Hemophiliacs with a “Milder” Bleeding Diathesis

1995 ◽  
Vol 74 (05) ◽  
pp. 1255-1258 ◽  
Author(s):  
Arnaldo A Arbini ◽  
Pier Mannuccio Mannucci ◽  
Kenneth A Bauer
Keyword(s):  
Hemophilia A ◽  
Factor V Leiden ◽  
Protein S ◽  
Factor Ix ◽  
Hemophilia B ◽  
Factor V ◽  
Bleeding Diathesis ◽  
Mutation Site ◽  
Spontaneous Bleeding ◽  
Factor V Leiden Mutation

SummaryPatients with hemophilia A and B and factor levels less than 1 percent of normal bleed frequently with an average number of spontaneous bleeding episodes of 20–30 or more. However there are patients with equally low levels of factor VIII or factor IX who bleed once or twice per year or not at all. To examine whether the presence of a hereditary defect predisposing to hypercoagulability might play a role in amelio rating the hemorrhagic tendency in these so-called “mild severe” hemophiliacs, we determined the prevalence of prothrombotic defects in 17 patients with hemophilia A and four patients with hemophilia B selected from 295 and 76 individuals with these disorders, respectively, followed at a large Italian hemophilia center. We tested for the presence of the Factor V Leiden mutation by PCR-amplifying a fragment of the factor V gene which contains the mutation site and then digesting the product with the restriction enzyme Mnll. None of the patients with hemophilia A and only one patient with hemophilia B was heterozygous for Factor V Leiden. None of the 21 patients had hereditary deficiencies of antithrombin III, protein C, or protein S. Our results indicate that the milder bleeding diathesis that is occasionally seen among Italian hemophiliacs with factor levels that are less than 1 percent cannot be explained by the concomitant expression of a known prothrombotic defect.

Detection of the Factor V Leiden Mutation Using Whole Blood PCR

1996 ◽  
Vol 75 (03) ◽  
pp. 520-521 ◽  
Author(s):  
D C Rees ◽  
M Cox ◽  
J B Clegg
Keyword(s):  
Whole Blood ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation

“Pseudo Homozygous” Activated Protein C Resistance due to Double Heterozygous Factor V Defects (Factor V Leiden Mutation and Type I Quantitative Factor V Defect) Associated with Thrombosis: Report of Two Cases Belonging to Two Unrelated Kindreds

1996 ◽  
Vol 75 (03) ◽  
pp. 422-426 ◽  
Author(s):  
Paolo Simioni ◽  
Alberta Scudeller ◽  
Paolo Radossi ◽  
Sabrina Gavasso ◽  
Bruno Girolami ◽  
...  
Keyword(s):  
Protein C ◽  
Dna Analysis ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Type I ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Thrombotic Risk ◽  
Apc Resistance ◽  
Quantitative Factor

SummaryTwo unrelated patients belonging to two Italian kindreds with a history of thrombotic manifestations were found to have a double heterozygous defect of factor V (F. V), namely type I quantitative F. V defect and F. V Leiden mutation. Although DNA analysis confirmed the presence of a heterozygous F. V Leiden mutation, the measurement of the responsiveness of patients plasma to addition of activated protein C (APC) gave results similar to those found in homozygous defects. It has been recently reported in a preliminary form that the coinheritance of heterozygous F. V Leiden mutation and type I quantitative F. V deficiency in three individuals belonging to the same family resulted in the so-called pseudo homozygous APC resistance with APC sensitivity ratio (APC-SR) typical of homozygous F. V Leiden mutation. In this study we report two new cases of pseudo homozygous APC resistance. Both patients experienced thrombotic manifestations. It is likely that the absence of normal F. V, instead of protecting from thrombotic risk due to heterozygous F. V Leiden mutation, increased the predisposition to thrombosis since the patients became, in fact, pseudo-homozygotes for APC resistance. DNA-analysis is the only way to genotype a patient and is strongly recommended to confirm a diagnosis of homozygous F. V Leiden mutation also in patients with the lowest values of APC-SR. It is to be hoped that no patient gets a diagnosis of homozygous F. V Leiden mutation based on the APC-resi-stance test, especially when the basal clotting tests, i.e., PT and aPTT; are borderline or slightly prolonged.

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