Early Recognition of Signs of Hypercoagulability to Prevent Adverse Health Outcomes

Case Report

Early Recognition of Signs of Hypercoagulability to Prevent Adverse Health Outcomes

Iqbal Grewal
Omar Elsemary ^*
Saifullah Nasim
Ameer Almullahassani

College of Medicine, California North state University College of Medicine, Elk Grove, USA.

*Corresponding Author: Omar Elsemary, College of Medicine, California North state University College of Medicine, Elk Grove, USA.

Citation: Grewal I., Elsemary O., Nasim S., Almullahassani A. (2023). Early Recognition of Signs of Hypercoagulability to Prevent Adverse Health Outcomes. Clinical Case Reports and Studies, BRS Publishers. 2(4); DOI: 10.59657/2837-2565.brs.23.036

Copyright: © 2023 Omar Elsemary, this is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Received: May 09, 2023 | Accepted: May 23, 2023 | Published: May 30, 2023

Abstract

Factor V Leiden is a genetic disorder that results in the elimination of the cleavage site on the clotting factor V and Va. This increases the risk for clotting events, such as a stroke, in affected individuals. Factor V Leiden is often overlooked due to a lack of screening measures. Our case report outlines a patient who suffered from a stroke with no abnormalities on diagnostic testing until further genetic testing revealed Factor V Leiden.

Keywords: hypercoagulability; stroke; pregnancy

Introduction

Strokes are extremely prevalent in the United States with the CDC estimating that about 800,000 people experience one every year [1]. The majority of these strokes are ischemic strokes and often leave individuals chronically disabled. Strokes commonly occur in the elderly and their incidence doubles with each decade of life after the age of 45 [2]. However, strokes do still affect younger adults, particularly those with genetic predispositions to thrombotic events. One such group that is at risk due to a genetic predisposition are those with Factor V Leiden.

Factor V Leiden is a mutation in which the amino acid arginine at the 506th position is substituted for glutamine [3]. This causes factor V to be resistant to degradation by protein C, ultimately leading to hypercoagulability. The increased risk of thrombosis in individuals with Factor V Leiden is also associated with increased risk of stroke with a much earlier incidence compared to the normal population. Although this presentation is uncommon, it is extremely dangerous and highlights the importance of genetic testing and preventive care, particularly in those with early warning signs. As such, this case report focuses on a young, obese but otherwise healthy female who experienced an ischemic stroke with the potential underlying cause of Factor V Leiden.

Case Presentation

A 39-year-old female with a BMI of 36 presented with right-sided upper and lower limb weakness along with slurring of speech. The patient was previously in good health with no major diagnoses. However, she does have a history of two spontaneous losses of pregnancy at ages 34 and 36. She states that her symptoms began at about 11:00 am and she presented roughly three hours later. She has not had a similar experience in the past and there is no family history of similar episodes. A CT scan was done upon admission, however there were no visible abnormalities. Complete blood count was also normal. A blood test revealed that she was positive for the Factor V Leiden mutation. The administration of tissue plasminogen activator (tPa) led to an almost complete reversal of the patient’s symptoms.

Discussion

Strokes are the second leading cause of death in the world with a variety of risk factors which are important to understand [4]. Two particularly important risk factors for ischemic strokes are the presence of hyperlipidaemia and atrial fibrillation [5]. While many of these risk factors are relatively common and have been studied extensively, the presence of Factor V Leiden is a major risk factor that may often be overlooked.

Although strokes generally occur in elderly individuals with already existing risk factors, patients with Factor V Leiden are at a significantly higher risk of experiencing strokes earlier in life. This is extremely important to consider, for individuals with Factor V Leiden are often unaware they have this mutation and may otherwise be healthy although they are at risk for a life changing thrombotic event. When associated with other risk factors, a Factor V Leiden mutation can significantly increase the probability of stroke. In the case of our patient, possessing the Factor V Leiden mutation alongside the risk factor of obesity put her at increased risk of stroke.

The increased risk of stroke due to Factor V Leiden calls for genetic testing to be done at an early age. It is estimated that about 5% of Caucasians and 1% of African Americans carry the Factor V Leiden mutation [6]. This is a significant portion of the population, and genetic testing will allow for early intervention and lifestyle modifications. Furthermore, carriers of this mutation may be completely healthy with no significant medical record as is the case with our patient. However, there may be some warning signs that patients may be carriers of Factor V Leiden such as recurrent pregnancy loss. Recurrent loss of pregnancy should raise red flags for thrombophilia and call for genetic testing [7]. Factor V Leiden is associated with a three-fold increase in risk for pregnancy loss, making it extremely important to consider in patients who have repeatedly lost pregnancies [8]. This exemplifies the importance of genetic testing, for it could be difficult to catch such mutations until it may be too late.

Conclusion

Our case focuses on a 39-year-old Caucasian female that was diagnosed with Factor V Leiden mutation upon presentation of stroke symptoms. Strokes become more common among individuals with each decade of life, however, a young patient with Factor V Leiden mutation could be prevented if diagnosed early. This calls attention to genetic/hypermobility testing on infants to ensure early prevention of risks associated with Factor V Leiden mutation and other hypercoagulability disorders.

References

(2021). Stroke facts Centers for Disease Control and Prevention.
Publisher | Google Scholor
Ovbiagele B, Nguyen-Huynh MN. (2011). Stroke epidemiology: advancing our understanding of disease mechanism and therapy. Neurotherapeutics, 8:319-329.
Publisher | Google Scholor
Albagoush SA, Koya S, Chakraborty RK, et al. (2021). Factor V Leiden Mutation. StatPearls Publishing, Treasure Island (FL).
Publisher | Google Scholor
Donkor ES. (2018). Stroke in the 21st century: A snapshot of the burden, epidemiology, and quality of life. Stroke Res Treat.
Publisher | Google Scholor
Boehme AK, Esenwa C, Elkind MS. (2017). Stroke Risk Factors, Genetics, and Prevention. Circ Res. 120:472-495.
Publisher | Google Scholor
De Stefano V, Chiusolo P, Paciaroni K, Leone G. (1998). Epidemiology of factor V Leiden: clinical implications. Semin Thromb Hemost., 24:367-379.
Publisher | Google Scholor
Ebrahimzadeh-Vesal R, Azam R, Ghazarian A, et al. (2014). Recurrent pregnancy loss in a subject with heterozygote factor V Leiden mutation; a case report. Rep Biochem Mol Biol., 2:98-102.
Publisher | Google Scholor
Martinelli I, Taioli E, Cetin I, et al. (2000). Mutations in coagulation factors in women with unexplained late fetal loss. N Engl J Med, 5:1015-1018.
Publisher | Google Scholor

Delia Teresa Sponza

"Journal of BioMed Research and Reports has created a diverse portfolio in peer review process and provides a wide range scientific and medical novel papers to the scientists. This journal publishes high-quality, peer-reviewed content across all levels of professional development and corporate research and development."

Fatema Tashrifwala

I would like to thank the editorial team for their timely responses and consideration in the publication of my paper. They have been very helpful and accommodating, Lastly, being an open access journal, the published work is freely available and accessible to readers at no cost to them. I would encourage other authors to publish their research in BioRes Scientia. I am happy to be a part of BioRes Scientia Publishers.

Dr Nikhil Vitthal Dayama

I would like to thank the editorial team for their timely and prompt responses and consideration in the publication of my case report. Being an open access journal, it will be great help for the readers to learn the new things without any cost. I would encourage the authors to publish their research in BioRes Scientia and I am happy to be part of this journal.

Boubacar Ahy Diatta

I warmly thank the editorial team for the excellent work they do for continuing medical education in Dermatology. I was able to discover with joy their professionalist, their support and above all appreciate their social generosity on the access to the magazines which is free. This allows an update of scientific knowledge to the entire scientific community. I gladly recommend authors for publication in this journal.

Professor Rajko Igic

The editor of JBRR helped me during the whole process, mainly to eliminate some typographical and other errors. It hastened this publication to be published quickly. Although it is a short text, I believe that the content is important for all medical and other scientific disciplines because eventual addition of the iC citations to citation of the paper would lead to proper assessment of the author's contribution.

Dr Tewodros kassahun Tarekegn

I am thrilled to have had the opportunity to publish my research article in this prestigious journal. The entire process of peer review and publication support provided by the editorial office was exceptional, and it fortified my belief in the quality of my research study. The rigorous peer review process ensured that only the highest quality research was published, and the feedback from the reviewers was extremely helpful. I appreciate the journal's commitment to open access publication, enabling my research to reach a wider audience. The easy-to-use online platform streamlined the submission, peer review, and publication process, and I would confidently recommend this journal to any author looking for efficient, rigorous, and high-quality peer-reviewed publication.

Francis Okello Ooko

I was impressed by your author-centred approach whereby you maintained constant and timely communication with us from the time we submitted the manuscript to acceptance, each time providing critical suggestions to improve the manuscript. In addition, we are encouraged by the thoroughness of your editorial team in checking the originality and overall, quality of the work. Which I believe is very encouraging to other researchers and authors who wish to publish their work in your journals. The published work and the information imparted is freely available and accessible to a wide spectrum of readers at no cost to them. I would encourage other authors to publish their research in BioRes Scientia. I am happy to be a part of BioRes Scientia Publishers.

Dr Nidhi Sapolia

I would like to thank the editorial team of their timely response and guidance in the publication of my case report. They have been extremely helpful at all stages. Being an open access journal, it is of great help for the readers to learn new experiences in different fields, I would highly recommend this journal to authors for high quality peer-reviewed publications.

Dwight L Mckee MD CNS ABIHM

I am very impressed by the high quality of the papers published by the International Journal of Clinical and Molecular Oncology. The editors of this journal are a pleasure to work with, as they are highly responsive even to numerous last minute changes in the manuscript that I recently published with them, and the changes are made on-line the same day they are received. I highly recommend this journal to anyone working in the oncology field, and also value it as a source of cutting edge information in the field.

Kyaw Swar Thet

I would like to thank the editorial team for the opportunity to publish our case report in this prestigious journal. I am very impressed by their timely and efficient handling of the submission, peer review, and publication processes. As residents of a developing, low-income country, we greatly appreciate the discount on submission charges. I hope that as an open access journal, it will facilitate easy access for readers to update their scientific knowledge. I highly recommend this journal for high-quality, peer-reviewed publications. I express my sincere gratitude to the editorial team for their excellent work.

Michel Farah

I would like to thank the editorial team for their quick response and support. The publication support and editorial office were excellent and very helpful. I am happy to have my research article published in this prestigious journal. Our previous case report published in this journal was very successful and viewed by many physicians worldwide.