How Would Genetics Affect The Way Chronic Venous Insufficiency Is Treated?

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Genes are the smallest and basic unit of inheritance of humans. They provide instructions to make proteins necessary for the proper functioning of the human body. Abnormal genes may lead to abnormal protein production, ultimately leading to diseases. As such, genetics plays a role in preventing a disease or promoting ways to treat them.

So how would genetics affect the way chronic venous insufficiency is treated? Because it has been observed that chronic venous insufficiency has a strong genetic component despite the exact mechanism not being elucidated yet. It's one of the risk factors for CVI along with obesity, inactivity, and female sex.

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Genetics Behind Chronic Venous Insufficiency

It has been established that chronic venous insufficiency has a strong genetic component, and a family history of this disease predisposes an individual to its development. The exact pathophysiological mechanisms behind the heredity of CVI aren't yet known, although several genes have also been implicated to be associated with this disease process.

For example, mutations in genes such as THBD and methylenetetrahydrofolate reductase (MTHFR) have been linked to both varicose veins and medical history of deep vein thrombosis. This is due to the observation that individuals with these mutations have hypercoagulability (an inherited condition where blood clot formation tends to occur more easily). 

Those with mutations of these genes and have varicose veins have increased levels of proinflammatory and prothrombotic molecules.

Meanwhile, different modes of heredity also have already been hypothesized and put forward due to observation of family pedigrees. Some hypothesize that varicose veins follow a form of the autosomal dominant pattern of inheritance while some hypothesize that they may be following autosomal recessive inheritance.

Data are indicating that the pattern of the mode of inheritance of varicose veins is different per different families studied, thus prompting another hypothesis, which is of multifactorial heredity which pertains to the combinatorial actions of minor genes with minor pathogenic action that, in sufficient numbers, may still lead to varicose veins. 

Note, however, that despite the strong genetic component of chronic venous insufficiency, correlations are only made through observation of pedigrees and it isn't yet included in newborn screening programs.

Other Risk Factors Behind Chronic Venous Insufficiency

Aside from genetic predisposition, there are other risk factors associated with chronic venous insufficiency that makes an individual more likely to contract the said disease. These risk factors include the following:

  • increasing age
  • medical history of cardiovascular diseases such as deep vein thrombosis and venous thromboembolism
  • high body mass index (BMI)
  • pregnancy
  • sedentary lifestyle
  • smoking
  • prolonged periods of standing or sitting
  • female sex

Epidemiology Of Chronic Venous Insufficiency

Chronic venous insufficiency affects approximately 25 million Americans, 6 million of which present with advanced stages of CVI. It's one of the most prevalent vascular diseases in the world, affecting 60 to 80% of people worldwide. 

It's important to look at this vascular disease because regardless of severity, it significantly affects the quality of life of the patient with the disease, posing a burden to the patient and to the healthcare systems. 

Pathological Processes Behind Chronic Venous Insufficiency

Chronic venous insufficiency is a multifactorial disease governed primarily by genetic and epigenetic alterations, hemodynamic and microcirculatory alterations, inflammation leading to endothelial dysfunction, formation of a hypoxic environment, and venous wall remodeling.

1) Hemodynamic And Microcirculatory Alterations

The flow of blood through the veins is more complicated than that in the arteries, especially since the hemodynamic properties of veins are governed by:

  • Valve competence - Valves function in preventing the backflow of blood. As such, incompetent valves will allow venous reflux that results in the pooling of blood to the blood vessels.
  • Stability of calf muscle pumps - The decreased function of the calf muscle that squeezes the veins to promote the return of blood to the heart also facilitates venous reflux.
  • Intact venous wall - Increased vascular wall permeability allows fluid, proteins, and blood vessels to leak out of the veins, which affects leukocyte activity and the perfusion and nutrition of the capillaries.
  • Enough elasticity - Stiffness of the veins that result from decreased elasticity exacerbates venous reflux that lets blood to pool in the blood vessels.

2) Inflammation

Inflammation is the hallmark of CVI, marked by high levels of pro-inflammatory cells and cytokines. For example, TGF-beta, a pro-inflammatory cytokine, is elevated in the early stages of CVI, mediating the initial its initial pathogenesis through extracellular matrix remodeling and vascular wall fibrosis, but is decreased in the later stages. Endothelial dysfunction caused by inflammation is also said to be the link that bridges CVI and deep vein thrombosis.

3) The Hypoxic Environment

Hypoxia is caused by the poor oxygen supply to the vascular wall mediated by CVI, which mediates the pathophysiology of CVI majorly at the later stages. Two mechanisms of hypoxia caused by CVI are determined to be brought on by venous hypertension and blood stasis, namely endoluminal hypoxia and medial hypoxia.

4) Venous Wall Remodeling

Shear stress and venous hypertension cause blood vessel damage that leads to venous wall remodeling in varicose veins. Multiple molecular pathways that are responsible for the formation of the venous wall will be adversely altered, which includes an increased level of hydroxyproline and reduced protective endothelial glycocalyx. 

Alterations in these molecular pathways result in venous wall remodeling caused by changes in collagen and elastic fibers, increased permeability of the vascular wall, impairments in the morphology of blood vessels, and other defects associated with CVI.

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Signs And Symptoms Of Chronic Venous Insufficiency

Chronic venous insufficiency doesn’t just appear one day - it builds up and the symptoms start showing up one by one. The major and common symptoms of chronic venous insufficiency include leg vein dilation, edema, leg pain, and cutaneous changes.

  • Leg vein dilation - Leg veins may be dilated as a result of the pooling of blood instead of maintaining the one-way blood flow. This pathology is brought by valve incompetence. Dilated veins may be classified based on their sizes, namely varicose veins (> 3 mm), reticular veins (1 mm to 3 mm), and telangiectasia or "spider veins" (< 1 mm).
  • Edema - Edema is the swelling of the lower extremities due to fluid retention that starts from the perimalleolar region and extends up to the legs.
  • Leg pain - Leg pain is the characteristic pain or heaviness upon prolonged standing that may be alleviated by the elevation of the lower extremities above the level of the heart. This may be due to an increase in blood pressure and volume of the venous system.
  • Cutaneous changes - Cutaneous changes associated with CVI include hyperpigmentation or the darkening of the skin due to hemosiderin deposition and lipodermatosclerosis or the inflammation of the dermis and subcutaneous tissue.

Other signs and symptoms that are directly or indirectly caused by the cardiovascular impairments brought by CVI include venous ulcers and behavioral symptoms such as anxiety and depression.

  • Venous ulcers - There's enough medical evidence present that establishes the connection between venous ulcers and CVI. Poor blood flow results in poor oxygenation and nourishment of the skin, leading to breaks in the skin known as venous ulcers. Note that this should be differentiated with the leg ulcer which is one of the complications of sickle cell, a blood disorder characterized by sickled cells that don't fit in the blood vessels.
  • Anxiety and depression - These psychiatric disorders aren't caused by an injury to the brain tissue brought by CVI but instead are due to aesthetic concerns surrounding the appearance of dilated veins.

How Chronic Venous Insufficiency Is Diagnosed

woman consulting a professional vein doctor about her chronic venous insufficiency

In order to provide appropriate medical care to veins afflicted with chronic venous insufficiency, a proper diagnosis must be established. This may be done through proper history-taking, physical examination, non-invasive testing, and invasive testing.

  • Medical history - Medical history is a good starting point for the diagnosis of CVI because it helps identify the risk factors that serve as relevant evidence of the predisposition of a patient into developing the said disease entity. 
  • Physical Examination - Physical exam entails looking for the signs and symptoms while the patient is in an upright position for the maximum distention of veins. A maneuver that may be used for this procedure is the classic tourniquet (Brodie-Trendelenburg) test where rapid dilation of varicose veins occurs if it's deep venous reflux while slower (> 20 seconds) of dilation occurs if it's superficial venous reflux.
  • Non-Invasive Testing - Techniques under the non-invasive testing include venous duplex imaging (the most commonly used technique), air plethysmography, computed tomography venography, and magnetic resonance imaging.

Vein Center Doctor: Offering Professional Outpatient Vein Treatments

At Vein Center Doctor, our team of physicians provides the best medical treatment options for vascular diseases backed with objective evidence regarding their efficacy. We combine the expertise of our healthcare professionals with the latest and state-of-the-art technology consistent with the prescribed treatment of clinical practice guidelines. 

We're committed to helping improve the quality of daily living activities of our patients by working with them to arrive at the right treatment plan. We offer the best outpatient treatments namely radiofrequency ablation, endovenous laser treatment, sclerotherapy, VenaSeal, and compression therapy. 

1) Radiofrequency Ablation

Radiofrequency ablation is an FDA-approved, minimally-invasive procedure that requires only local anesthesia. It entails the use of a catheter with a heating element on its tip to deliver pulses of radiofrequency to the target vein. It causes the closure of a vein brought by the destruction of its endothelium (the inner lining of the vein).

It's a proven safe procedure with little downtime where patients can resume their normal activities as soon as possible. Side effects like bruising and tenderness can be avoided by using compression bandages or stockings for 1 to 3 days. This procedure, however, should be avoided by patients with a superficial vein diameter of less than 2 mm, patients with a medical history of deep vein thrombosis and malignancy, and pregnant women.

2) Endovenous Laser Treatment

Like radiofrequency ablation, endovenous laser treatment is also a minimally-invasive procedure that uses heat energy delivered by a catheter to close off the affected vein. It also utilizes an acceptable imaging technique to guide its administration. 

However, unlike RFA, it uses a laser with a wavelength of 810 nm or 940 nm to redirect the flow of blood to healthier veins. It prevents the reflux of the saphenous vein, superficial vein, and perforator vein. Some rare side effects of this procedure include infection, bruising, and nerve damage, but these mostly only happen in the hands of untrained practitioners.

3) Sclerotherapy

Sclerotherapy entails the injection of sclerosing agents such as a hypertonic solution of sodium chloride (23.4%), sodium tetradecyl sulfate, and sodium iodide. The target vein is closed off due to the irritation of the endothelium and may be used to treat a variety of conditions such as dilated veins, bleeding varicosities, and small cavernous hemangiomas.

Two types of sclerotherapy are available, namely liquid sclerotherapy and ultrasound-guided foam sclerotherapy, with the latter showing a better efficacy but has more potential complications. This is because liquid sclerotherapy has its sclerosants delivered in liquid unlike the gas form of UGFS, so it's diluted by blood before reaching the target vein.

4) VenaSeal

The VenaSeal closure system involves the use of a catheter to deliver the medical-grade VenaSeal adhesive using a specific delivery sequence to seal off the vein with chronic venous insufficiency. 

It's an ultrasound-guided procedure that uses ultrasound to locate the most distal point of the vein which serves as the access site and to also check the target vein after the procedure and see if it has really closed off. The area is then compressed followed by placing a bandage over the insertion site.

5) Compression Therapy

Compression therapy is the standard of care for both chronic insufficiency and venous ulcer. It aims to compress the target vein to prevent fluid retention due to the hydrostatic forces of venous hypertension. 

It's known to improve the quality of life of the patient who uses it due to less pain, swelling, and prevention of skin discoloration. Side effects, on the other hand, include dryness of the skin, itching, slipping, and constriction of the compression device. This also shouldn't be undergone by patients with chronic heart failure.

Various types of compression garments are available such as graded elastic compression stockings and paste gauze boots. There are also various types of compression systems such as inelastic and elastic compression therapy, single-component systems, and multi-component systems.

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Genetics plays a role in the pathophysiology of varicose veins by predisposing an individual to manifest the symptoms of the disease. Family history of varicose veins is one of the risk factors for the development of varicose veins, along with a sedentary lifestyle, high body mass index, and female sex.

At Vein Center Doctor, compassionate and quality clinical care of patients is our top priority. Headed by Dr. Rahul Sood, our team of experts will help you find the right treatment options for any blood vessel problems you may have. Start your journey with us now towards healthier veins by contacting us at 862-227-1143 (NJ) or 862-227-1054 (NY) for your free consultation.

Your First Step To Being Vein Pain Free

Find exactly what you need to get rid of your vein-related problems. Dr. Sood and the rest of our team at Vein Center Doctor are ready to help: schedule your free consultation today.

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