Factor V Leiden: Diagnosis and Treatment

Table of Contents

Abstract

Factor V Leiden is a genetic blood disorder affecting the clotting system. In this disorder, the coagulation ability of blood is very high that the patient is susceptible to clot formation in the blood vessels especially the veins. The factor V Leiden disorder can be classified into heterogeneous and homogenous depending on the copies of mutated factor V that an individual has inherited. Majority of the patients with factor V Leiden disorder are initially asymptomatic, but later develop thrombosis episodes. The diagnosis of factor V Leiden is through history taking and physical examination followed by diagnostic tests. The genetics and the resistance tests are the two diagnostic tests.

The aim of management is to prevent the development of blood clots. The treatment will vary depending on the patient’s history of blood clots, the clinical manifestations and the requirement of a surgical procedure. Anticoagulants are the medications of choice and they include heparin and warfarin. Other management options to help reduce the risk of developing clots include regular exercise, early mobilization after an illness, and avoiding cigarette smoking. The patient with factor V Leiden disorder should consume foods such as orange, cherries, garlic, and paprika as they help in thinning of the blood.

Introduction

Factor V Leiden is a genetic blood disorder affecting the clotting system. In this disorder, the coagulation ability of blood is very high that the patient is susceptible to clot formation in the blood vessels especially the veins. The commonly affected veins are those in the legs, predisposing the patient to deep vein thrombosis. The aforementioned clot can dislodge and when it lands in the arterial circulation, the patient’s chance of getting pulmonary embolism with subsequent cardiac arrest is high. In this paper, factor V Leiden is analyzed with a focus on genetics, symptoms, tests, diagnosis, and management.

Genetics

Factor V Leiden disorder can be genetically transferred from either or both parents (Stacy & Lough, 2013). In the event that one of the parents has the disease, there is a 50% probability of the children developing the condition. Majority of the people suffering from factor V Leiden disorder have acquired a copy of the mutated factor V gene from either parents (Kelly, 2013). Patients with a copy of the mutated factor V gene are at higher risk of blood clotting compared to the normal people. This is due to the fact that the clotting process cannot be controlled since the activated protein cannot inactivate the mutated factor V (Leonard, 2010).

According to Kelly (2013), the factor V Leiden disorder can be classified into heterogeneous and homogenous depending on the copies of mutated factor V that an individual has inherited. Heterogeneous is common when one parent is heterozygous and the other is normal, giving the child a 50% chance of developing the disorder. Stacy & Lough (2013) add that, heterogeneous state can also occur when one parent is homozygous while the other is normal, giving the child a 100% probability of acquiring a copy of the mutated factor V gene.

Homogeneous factor V Leiden disorder is rare and occur when the child acquire two copies of the mutated factor V gene, one from each parent (Leonard, 2010). This is possible when the two parents are heterogeneous and the probability of the child acquiring two copies of the mutated factor V gene is 25%. Kelly (2013) add that homogenous state can also occur when both parents are homogenous, meaning the child will be automatically homogenous, a rare occurrence.

Symptoms

Majority of the patients with factor V Leiden disorder are initially asymptomatic, meaning that they do not present with any clinical features (Stacy & Lough, 2013). Later the patient will develop blood clots in the vascular circulation. Some of the clots are not harmful as they later dissolve while others are life threatening as they move in the circulatory system (Leonard, 2013). The clinical features of the patient will not only depend on the location of the clots but also on whether the clots move in the vascular system or not.

The common location of the clots is the legs, the ankle, and the feet and the patient presents with pain, swelling, redness of the affected area and local warmth (Kelly, 2013). This means that the patient will have difficulties with walking. This situation where clots form in the deep veins of the legs is known as deep vein thrombosis and on inspection of the leg, the veins are twisted and blue in color (Stacy & Lough (2013). The clots may also form on the veins that are close to the skin surface, a condition known as superficial vein thrombosis. In superficial vein thrombosis, there is enlarged vein and redness on inspection, as well as tenderness, pain, and local warmth on palpation (Leonard, 2013).

As the disorder progress, the developed clot can dislodge and travel via the vascular circulation into the heart, then the lungs and block the flow of blood, a condition known as pulmonary embolism (Stacy & Lough, 2013). A patient with pulmonary embolism presents with difficulties in breathing, sudden chest pain, tachycardia, and productive cough with blood stained sputum (Leonard, 2013).

Tests and Diagnosis

The diagnosis of factor V Leiden is through history taking and physical examination followed by diagnostic tests. Factor V Leiden disease should be queried when a patient presents with a history of thrombosis (Stacy & Lough, 2013). This is because thrombosis is the main clinical presentation of factor V Leiden disorder. According to Kelly (2013), patients with factor V Leiden disorder experience frequent thrombosis. A family history of either thrombosis or factor V Leiden disorder in either or both parents increases the probability of the patient having the aforementioned clotting disorder (Leonard, 2013).

This is because factor V Leiden disease is a genetic disorder. A physical examination is performed when the patient presents with symptoms of factor V Leiden in order to confirm the patient’s complaints and ascertain the existence of the disorder (Stacy & Lough, 2013). The physical examination is followed by blood tests which will confirm the diagnosis.

The genetics and the resistance tests are the two diagnostic tests. The resistance blood test involves screening the patient’s blood for the resistance of activated protein C (Kelly, 2013). When the patient’s blood is resistant to activated C protein, there is a probability that the patient could be suffering from factor V Leiden disorder. This is due to the fact that the mutated factor V gene is resistant to the activated C protein (Leonard, 2013). Once the resistance test is positive, the genetic test is prescribed to confirm the positivity of the blood resistance test. In genetic test, the presence of factor V mutated gene is established (Kelly, 2013). It is also possible for the genetic test to establish whether the patient has only one or two copies of the mutated factor V gene.

Treatment

The aim of management is to prevent the development of blood clots. The treatment will vary depending on the patient’s history of blood clots, the clinical manifestations, and the requirement of a surgical procedure (Stacy & Lough, 2013). Anticoagulants are the medications of choice and they include heparin and warfarin. Compared to warfarin, heparin works quickly but the patient will require close monitoring due to increased risk of bleeding (Leonard, 2013). According to Kelly (2013), dabigatran can also be used to thin the blood and its advantage over the heparin and the warfarin is that the patient does not require close monitoring. The main disadvantage of dabigatran is the interaction with most of the antibiotic as well as the antifungal (Kelly, 2013).

A patient with factor V Leiden disorder but without thrombosis is not given anticoagulants unless the patient is hospitalized for a surgical procedure (Kelly, 2013). This means that the patient is given anticoagulant prophylactically to prevent the development of blood clots during hospitalization. Patients presenting with thrombosis are given the anticoagulants of varying doses and duration depending on the clinical manifestations.

Other management options to help reduce the risk of developing clots include regular exercise, early mobilization after an illness, and avoiding cigarette smoking (Stacy & Lough, 2013). Regular exercise increase the ability of the patient’s body to dissolve the developed clots, hence, preventing the deep and the superficial vein thrombosis. Early mobilization after an illness improves blood circulation, hence decreasing the risk of clot formation that is prevalent due to stasis of blood. Smoking is associated with decrease in the volume of oxygenated blood, with subsequent damage of the blood vessel walls (Leonard, 2010). The damaged blood vessel walls trigger the clotting system and the patient is at risk of thrombosis.

Diet

The patient with factor V Leiden disorder should consume foods that help in thinning of the blood as it will help counteract the coagulation effects of the condition (Stacy & Lough, 2013). Foods that are blood thinners include herbs such as ginger, pepper, and paprika. Foods that contain salycylates are imperative because they block the receptors of vitamin K, thus reducing the probability of bleeding (Leonard, 2010). Foods that contain salycylates are oranges, cherries, grapes and prunes. Foods that are low in vitamin K should be encouraged and they include potatoes, pumpkins, eggs, apples, beans. The patient should take a balanced diet in order to avoid obesity because obesity increases the clotting risk by decreasing the venous circulation (Kelly, 2013).

Conclusion

Factor V Leiden disorder can be stressful to many patients due to the fact that it is not treatable. It is recommended that genetic and resistance tests should be done to a patient with recurring thrombosis. In the event that the patient has factor V Leiden disorder, lifestyle change is highly significant in order to reduce the risk of developing clots. The patient requires social support and encouragement so that he can adhere to the treatment regimen.

References

Kelly, E. B. (2013). Encyclopedia of Human Genetics and Disease. New Jersey: ABC-CLIO.

Leonard, D. G. B. (2010). Molecular Pathology in Clinical Practice. New York: Springer Science & Business Media.

Stacy, K. M., & Lough, M. E. (2013). Critical Care Nursing, Diagnosis and Management: Critical Care Nursing. Philadelphia: Elsevier Health Sciences.

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