What causes high levels of homocysteine. Homocysteine Test: Understanding Causes, Uses, and Implications for Heart Health
What is a homocysteine test. How does it measure amino acid levels in blood. Why might a healthcare provider order this test. What can high homocysteine levels indicate about vitamin deficiencies and heart disease risk.
The Importance of Homocysteine Testing in Health Assessment
Homocysteine testing plays a crucial role in evaluating various aspects of health, particularly in relation to cardiovascular risk and vitamin B deficiencies. This amino acid, when present in elevated levels, can serve as an indicator of underlying health issues that may require further investigation or intervention.
What is Homocysteine?
Homocysteine is an amino acid produced by the body as part of normal metabolic processes. Under typical circumstances, it’s quickly broken down and converted into other essential substances with the help of vitamin B12, vitamin B6, and folic acid (vitamin B9). When this process is disrupted, homocysteine levels can rise, potentially signaling health concerns.
Key Reasons for Conducting a Homocysteine Test
Healthcare providers may recommend a homocysteine test for several reasons:
- To identify potential vitamin B deficiencies
- To assist in diagnosing homocystinuria, a rare genetic disorder
- To assess cardiovascular risk in individuals with pre-existing risk factors
Detecting Vitamin B Deficiencies
Elevated homocysteine levels can indicate a deficiency in vitamin B12, B6, or folic acid. These vitamins are crucial for the breakdown of homocysteine, and their absence can lead to accumulation of this amino acid in the bloodstream.
Diagnosing Homocystinuria
Homocystinuria is a rare genetic condition that affects the body’s ability to process certain amino acids. A homocysteine test can be a valuable tool in identifying this disorder, particularly in newborns and young children.
The Connection Between Homocysteine and Cardiovascular Health
High levels of homocysteine have been associated with an increased risk of cardiovascular problems. These elevated levels can potentially damage the inner lining of arteries and promote blood clot formation, thereby raising the risk of heart attacks, strokes, and other cardiovascular diseases.
Who Should Consider Homocysteine Testing?
While routine homocysteine testing is not recommended for the general population, certain groups may benefit from this assessment:
- Individuals with a history of heart attacks or strokes
- People with high blood pressure, high cholesterol, or diabetes
- Those with a family history of early-onset cardiovascular disease
The Homocysteine Testing Procedure: What to Expect
The homocysteine test is a straightforward blood test that involves drawing a small sample from a vein in your arm. The procedure typically takes less than five minutes and carries minimal risks, with potential minor discomfort or bruising at the needle insertion site.
Preparing for the Test
Prior to the test, you may be asked to fast for 8-12 hours. It’s crucial to inform your healthcare provider about any medications or supplements you’re taking, particularly vitamin B supplements, as these can affect test results.
Interpreting Homocysteine Test Results
Understanding your homocysteine test results is essential for determining the appropriate next steps in your healthcare journey. High homocysteine levels can indicate various conditions or deficiencies:
- Vitamin B12 or folic acid deficiency
- Homocystinuria
- Increased cardiovascular risk
- Other conditions such as osteoporosis, chronic kidney disease, or thyroid disorders
It’s important to note that elevated homocysteine levels don’t always signify a medical condition requiring treatment. Factors such as age, genetics, and certain medications can influence test results.
The Role of Homocysteine in Specific Health Conditions
Homocysteine and Heart Disease
While high homocysteine levels have been linked to an increased risk of cardiovascular problems, the exact nature of this relationship remains under investigation. Current research suggests that while elevated homocysteine may be a marker for heart disease risk, lowering these levels does not necessarily reduce the risk of heart attacks or strokes.
Homocysteine and Cognitive Health
Some studies have explored the potential connection between homocysteine levels and cognitive decline, including conditions like Alzheimer’s disease. While more research is needed, maintaining healthy homocysteine levels through proper nutrition may play a role in supporting brain health.
Managing Elevated Homocysteine Levels
If your homocysteine test reveals elevated levels, your healthcare provider may recommend various strategies to address this:
- Increasing dietary intake of folate, vitamin B12, and vitamin B6
- Vitamin B supplementation
- Lifestyle modifications, such as increasing physical activity and quitting smoking
- Addressing underlying health conditions that may be contributing to elevated homocysteine levels
Dietary Sources of B Vitamins
Incorporating foods rich in B vitamins can help maintain healthy homocysteine levels. Some excellent sources include:
- Leafy green vegetables (for folate)
- Eggs and dairy products (for vitamin B12)
- Whole grains and legumes (for vitamin B6)
- Fish and poultry (for various B vitamins)
Homocysteine Testing in Special Populations
Homocysteine and Pregnancy
Monitoring homocysteine levels during pregnancy can be important, as elevated levels have been associated with certain pregnancy complications. Adequate folic acid intake is particularly crucial during this time to support fetal development and maintain healthy homocysteine levels.
Homocysteine in Older Adults
Older adults may be at higher risk for elevated homocysteine levels due to decreased absorption of vitamin B12 from food sources. Regular monitoring and appropriate supplementation may be recommended for this population.
Future Directions in Homocysteine Research
As our understanding of homocysteine’s role in health and disease continues to evolve, ongoing research aims to clarify several key areas:
- The precise mechanisms by which homocysteine affects cardiovascular health
- The potential benefits of homocysteine-lowering interventions in reducing disease risk
- The role of genetic factors in homocysteine metabolism and related health outcomes
- The development of more targeted and personalized approaches to managing elevated homocysteine levels
Emerging Technologies in Homocysteine Testing
Advancements in testing methodologies may lead to more accessible and frequent homocysteine monitoring. Point-of-care testing and home-based monitoring systems could potentially allow for more regular assessment of homocysteine levels, enabling earlier interventions and more personalized health management strategies.
The Broader Context of Homocysteine in Metabolic Health
Homocysteine levels are just one piece of the complex puzzle of metabolic health. Understanding how homocysteine interacts with other metabolic markers and processes can provide a more comprehensive picture of an individual’s overall health status.
Homocysteine and the Methylation Cycle
Homocysteine plays a crucial role in the methylation cycle, a biochemical process that affects numerous bodily functions, including:
- DNA synthesis and repair
- Neurotransmitter production
- Detoxification processes
- Immune system function
Disruptions in the methylation cycle, which can be reflected in abnormal homocysteine levels, may have far-reaching effects on overall health and well-being.
Homocysteine and Inflammation
Research has suggested a potential link between elevated homocysteine levels and chronic inflammation. This connection may provide further insight into the relationship between homocysteine and various health conditions, including cardiovascular disease and neurodegenerative disorders.
Integrating Homocysteine Testing into Comprehensive Health Assessments
While homocysteine testing can provide valuable information, it’s most effective when considered as part of a broader health evaluation. Healthcare providers may combine homocysteine testing with other assessments to gain a more complete understanding of an individual’s health status and risk factors.
Complementary Tests and Assessments
In addition to homocysteine testing, healthcare providers may recommend:
- Lipid profile tests to assess cholesterol levels
- Blood pressure measurements
- Glucose tolerance tests for diabetes risk assessment
- Comprehensive vitamin B panel to identify specific deficiencies
- Genetic testing for inherited disorders affecting homocysteine metabolism
By considering these various factors together, healthcare providers can develop more tailored and effective prevention and treatment strategies.
Empowering Patients: The Role of Education in Homocysteine Management
As with many aspects of health, patient education plays a crucial role in managing homocysteine levels and related health risks. Understanding the significance of homocysteine testing and its implications can empower individuals to take proactive steps in maintaining their health.
Key Points for Patient Education
- The importance of a balanced diet rich in B vitamins
- The potential impact of lifestyle factors on homocysteine levels
- The need for regular health check-ups and appropriate screening tests
- The importance of adherence to prescribed treatments or supplements
By fostering a collaborative approach between healthcare providers and patients, the management of homocysteine levels and associated health risks can be more effectively addressed.
Conclusion: The Evolving Landscape of Homocysteine Research and Clinical Practice
As our understanding of homocysteine’s role in health and disease continues to grow, its place in clinical practice is likely to evolve. While current evidence suggests caution in using homocysteine levels as a sole predictor of cardiovascular risk, its value as part of a comprehensive health assessment remains significant.
Ongoing research may uncover new applications for homocysteine testing and lead to more targeted interventions for managing elevated levels. As we move towards more personalized approaches to healthcare, the role of homocysteine testing in tailoring prevention and treatment strategies may become increasingly important.
Ultimately, the goal is to use the insights gained from homocysteine testing, along with other clinical and lifestyle factors, to promote better overall health outcomes and quality of life for individuals across diverse populations.
Homocysteine Test: MedlinePlus Medical Test
What is a homocysteine test?
A homocysteine test measures the amount of homocysteine in a sample of your blood. Homocysteine is an amino acid. Amino acids are molecules that your body uses to make proteins.
Normally, your homocysteine levels are low. That’s because your body uses vitamin B12, vitamin B6, and folic acid (also called folate or vitamin B9) to quickly break down homocysteine and change it into other substances that your body needs. High levels of homocysteine in your blood may be a sign that this process isn’t working properly or that you’re lacking certain B vitamins.
High levels of homocysteine can damage the inside of your arteries and increase your risk of forming blood clots. This may increase your risk for heart attack, stroke, and other heart diseases and blood vessel disorders.
Other names: total homocysteine, plasma total homocysteine
What is it used for?
A homocysteine test may be used to:
- Find out if you’re lacking vitamin B6, B12, or folic acid. These vitamins break down homocysteine. So if you don’t have enough of them, your homocysteine levels will increase. A homocysteine test may be done with a blood test to measure your vitamin B levels.
- Help diagnose homocystinuria. Homocystinuria is a rare, genetic disease that prevents your body from using a certain amino acid to make important proteins. Symptoms usually show up in the first year of life, but they may not appear until childhood or later. Common symptoms include problems with eyesight, blood clots, and weak bones. In the U.S., most newborns have a routine screening test to check for homocystinuria.
- Better understand your risk for heart attack or stroke if you already have an increased risk. Your health care provider may order a homocysteine test if you have been diagnosed with heart or blood vessel disease or if you have conditions that increase your risk for heart and blood vessel disease, such as:
- High blood pressure
- High cholesterol
- Diabetes
Medical experts don’t recommend routine homocysteine testing to screen for heart disease risk in everyone. That’s because researchers aren’t sure how much homocysteine levels affect heart and blood vessel diseases. And so far, studies have shown that lowering homocysteine levels doesn’t reduce the risk of heart attack or stroke.
Why do I need a homocysteine test?
You may need this test if you have symptoms that suggest you lack vitamin B12 or folic acid. The symptoms may be very mild to severe and may include:
- Dizziness
- Fatigue and/or weakness
- Headache
- Heart palpitations (racing or pounding heart)
- Changes in the color of your skin or fingernails
- Sores on your tongue or in your mouth
- Tingling or numbness in your hands, feet, arms, and/or legs
Your provider may order this test if you have a high risk for low levels of vitamin B12 or folic acid because you:
- Have malnutrition.
- Are an older adult. Older people often can’t absorb enough vitamin B12 from food.
- Have alcohol use disorder or a drug addiction.
Your provider may recommend this test if you:
- Have had a heart attack or stroke
- Have one or more conditions that increase your risk for heart attack or stroke, such as high LDL “bad” cholesterol or high blood pressure
What happens during a homocysteine test?
A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial. You may feel a little sting when the needle goes in or out. This usually takes less than five minutes.
Will I need to do anything to prepare for the test?
You may need to fast (not eat or drink) for 8–12 hours before a homocysteine test. Some medicines and supplements may affect your test results. So, tell your provider about all medicines and supplements you take, especially vitamin B. But never stop taking any medicines unless your provider tells you to.
Are there any risks to the test?
There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
What do the results mean?
A high homocysteine level may be a sign that:
- You are not getting enough vitamin B12 or folic acid in your diet.
- You (or your child) have homocystinuria. You will probably need more testing to rule out or confirm a diagnosis of homocystinuria.
- You may have a higher risk of heart disease, stroke, or other blood vessel disorders.
Higher than normal homocysteine levels may also happen with other conditions, such as osteoporosis, chronic kidney disease, hypothyroidism, or Alzheimer’s disease or other types of dementia.
If your homocysteine levels are high, it doesn’t always mean you have a medical condition that needs treatment. Your results may be affected by:
- Your age. Homocysteine levels may get higher as you get older.
- Your sex. Males usually have higher homocysteine levels than females, but levels in females increase after menopause.
- Smoking
If you have questions about your results, talk with your provider.
Learn more about laboratory tests, reference ranges, and understanding results.
Is there anything else I need to know about a homocysteine blood test?
If you have high homocysteine levels, your provider may suggest that you make changes in the foods you eat. Eating a balanced diet can help you get the right amount of vitamins. If you’re considering taking vitamin supplements, talk with your provider first. Research has not shown that reducing homocysteine levels can reduce your risk of heart attack or stroke.
References
- Cleveland Clinic: Health Library: Diagnostics & Testing [Internet]. Cleveland (OH): Cleveland Clinic; c2022.Homocysteine; [reviewed 2021 May 7; cited 2022 June 15]; [about 10 screens]. Available from: https://my.clevelandclinic.org/health/articles/21527-homocysteine
- Cleveland Clinic: Health Library: Diagnostics & Testing [Internet]. Cleveland (OH): Cleveland Clinic; c2022. Homocysteine Test; [reviewed 2022 Feb 2; cited 2022 June 15]; [about 11 screens]. Available from: https://my.clevelandclinic.org/health/diagnostics/22393-homocysteine-test
- Mayo Clinic: Mayo Medical Laboratories [Internet]. Mayo Foundation for Medical Education and Research; c1995–2022. Test ID: HCYSS: Homocysteine, Total, Serum: Clinical and Interpretative; [cited 2022 Jun 15]; [about 7 screens]. Available from: https://www.mayocliniclabs.com/test-catalog/overview/35836#Clinical-and-Interpretive
- Merck Manual Consumer Version [Internet]. Kenilworth (NJ): Merck & Co. Inc.; c2022. Homocystinuria; [reviewed 2021 Dec; cited 2022 Jun 15]; [about 3 screens]. Available from: https://www.merckmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/homocystinuria
- National Center for Advancing Translational Sciences/Genetic and Rare Diseases Information Center [Internet]. Gaithersburg (MD): U.S. Department of Health and Human Services; Homocystinuria; [updated 2021 Nov 8; cited 2022 Jun 15]; [about 7 screens]. Available from: https://rarediseases.info.nih.gov/diseases/10770/homocystinuria
- National Institutes of Health: Office of Dietary Supplements [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; Vitamin B12: Fact Sheet for Consumers [updated 2021 Jul 7; cited 2022 Jun 15]; [about 10 screens]. Available from: https://ods.od.nih.gov/factsheets/VitaminB12-Consumer/#h6
- National Institutes of Health: Office of Dietary Supplements [Internet]. Bethesda (MD): U.S. Department of Health and Human Services; Folate: Fact Sheet for Consumers [updated 2021 Mar 22; cited 2022 Jun 15]; [about 11 screens]. Available from: https://ods.od.nih.gov/factsheets/Folate-Consumer/#h6
- Son P, Lewis L. Hyperhomocysteinemia. [Updated 2022 May 8; cited 2022 Jun 15]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK554408/
- Testing.com [Internet]. Seattle (WA).: OneCare Media; c2022. Homocysteine; [modified 2021 Nov 9; cited 2022 Jun 15]; [about 11 screens]. Available from: https://www.testing.com/tests/homocysteine/
- University of Rochester Medical Center [Internet]. Rochester (NY): University of Rochester Medical Center; c2022. Health Encyclopedia: Homocysteine; [cited 2022 Jun 15]; [about 4 screens]. Available from: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167& ontented=homocysteine
- UW Health [Internet]. Madison (WI): University of Wisconsin Hospitals and Clinics Authority; c2022. Homocysteine [updated 2021 Dec 27; cited 2022 Jun 15]; [about 7 screens]. Available from: https://patient.uwhealth.org/healthwise/article/en-us/tu2008
High Homocysteine Levels (Hyperhomocysteinemia)
High Homocysteine Levels (Hyperhomocysteinemia)
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Medically reviewed by Suzanne Falck, M. D., FACP — By Kiara Anthony — Updated on September 18, 2018
What does it mean to have high homocysteine levels?
Homocysteine is an amino acid produced when proteins are broken down. A high homocysteine level, also called hyperhomocysteinemia, can contribute to arterial damage and blood clots in your blood vessels.
High homocysteine levels usually indicate a deficiency in vitamin B-12 or folate.
A normal level of homocysteine in the blood is less than 15 micromoles per liter (mcmol/L) of blood. Higher levels of homocysteine are split into three main categories:
- Moderate: 15-30 mcmol/L
- Intermediate: 30-100 mcmol/L
- Severe: greater than 100 mcmol/L
Hyperhomocysteinemia itself usually does not cause any symptoms in adults, though it can in children. Symptoms can also vary from one person to the next and be subtle.
Doctors may order a homocysteine test if they suspect you have a vitamin deficiency, and if you begin exhibiting symptoms of a vitamin deficiency.
Symptoms of a vitamin B-12 deficiency include:
- pale skin
- weakness
- fatigue
- tingling sensations (like pins and needles) in the hands, arms, legs, or feet
- dizziness
- mouth sores
- mood changes
Symptoms of a folate deficiency are often subtle and are similar to those of a B-12 deficiency. These include:
- fatigue
- mouth sores
- tongue swelling
- growth problems
Symptoms of vitamin deficiency anemia overlap with those of B-12 and folate deficiencies, also causing additional symptoms:
- fatigue
- muscle weakness and unsteady movements
- pale or yellowish skin
- personality changes
- shortness of breath or dizziness
- irregular heartbeat
- numbness or tingling in hands and feet
- mental confusion or forgetfulness
- weight loss
Many factors contribute to high homocysteine levels. If you have a folate or B vitamin deficiency, you may develop hyperhomocysteinemia.
Other risk factors include:
- low thyroid hormone levels
- psoriasis
- kidney disease
- certain medications
- genetics
If you test positive for elevated homocysteine levels, you could be at an increased risk of developing a number of health issues. Some common conditions associated with high homocysteine are:
- osteoporosis, or bone thinning
- atherosclerosis, or a buildup of fats and other substances in the arterial walls
- thrombosis, a blood vessel blood clot
- venous thrombosis, a blood clot in the veins
- heart attack
- coronary artery disease
- stroke
- dementia
- Alzheimer’s disease
Your doctor can perform a simple blood test to measure how much is in your bloodstream. This can also detect if you’ve developed a vitamin deficiency or identify the cause of unexplained blood clots.
Your doctor may require you to fast a few hours before the test. Certain medications or vitamin supplements can affect your results. Talk to your doctor about any medications you’ve been taking prior to this test.
Results are usually available within 24 hours.
Once diagnosed, you may have to change your diet to lower your homocysteine levels. If you have a vitamin deficiency, you can increase your vitamin B intake and folic acid by eating folate-rich foods such as green vegetables, orange juice, and beans.
In some cases, doctors may prescribe daily vitamin supplements.
Once you begin treatment, you should have your homocysteine levels rechecked within two months. If your homocysteine levels are still high after taking these supplements, your doctor may prescribe medications with higher levels of folic acid and vitamin B.
If you have developed hyperhomocysteinemia as a symptom from other health conditions, treatment will focus on the underlying condition.
While it’s possible to lower high homocysteine levels, there’s not enough research to determine whether treatment can prevent associated diseases.
If diagnosed with hyperhomocysteinemia, discuss your treatment options with your doctor. Proper treatment and some lifestyle changes can help to ensure a higher quality of life.
Last medically reviewed on January 2, 2018
How we reviewed this article:
Healthline has strict sourcing guidelines and relies on peer-reviewed studies, academic research institutions, and medical associations. We avoid using tertiary references. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.
- Akhabue E, et al. (2014). New and emerging risk factors for coronary heart disease. DOI:
dx.doi.org/10.1097/MAJ.0b013e31828aab45 - American Academy of Family Physicians. (2014). High homocysteine level: How it affects your blood vessels.
familydoctor.org/high-homocysteine-level-how-it-affects-your-blood-vessels/ - American Association for Clinical Chemistry. (2014). Homocysteine.
labtestsonline.org/understanding/analytes/homocysteine/tab/test/ - Mayo Clinic Staff. (2016). Vitamin deficiency anemia.
mayoclinic.org/diseases-conditions/vitamin-deficiency-anemia/symptoms-causes/syc-20355025 - Pizzorno J. (2014). Homocysteine: Friend or foe?
ncbi.nlm.nih.gov/pmc/articles/PMC4566450/ - University of Rochester Medical Center. (n.d.). Homocysteine.
urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=167&ContentID=homocysteine - Varga EA, et al. (2005). Homocysteine and MTHFR mutations. DOI:
doi.org/10.1161/01.CIR.0000165142.37711.E7
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Medically reviewed by Suzanne Falck, M.D., FACP — By Kiara Anthony — Updated on September 18, 2018
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universal risk factor for vascular disorders
Hyperhomocysteinemia is a pathological condition, the timely diagnosis of which in the overwhelming majority of cases allows prescribing a simple, cheap, effective and safe treatment that reduces the risk of many life-threatening diseases and complications dozens of times.
Homocysteine is a conversion product of methionine, one of the eight essential amino acids. From homocysteine, another amino acid, cysteine, which is not among the essential amino acids, can later be formed. Excess homocysteine accumulated in the body can be converted back into methionine. Vitamins act as cofactors for the enzymes of the metabolic pathways of methionine in the body, the most important of which are folic acid, pyridoxine (B6), cyanocobalamin (B12) and riboflavin (B1).
Homocysteine is not a structural element of proteins, and therefore does not enter the body with food. Under physiological conditions, the only source of homocysteine in the body is the conversion of methionine.
Homocysteine has a pronounced toxic effect on the cell. To protect the cell from the damaging effects of homocysteine, there are special mechanisms for its removal from the cell into the blood. In the event of an excess of homocysteine in the body, it accumulates in the blood, and the inner surface of the vessels becomes the main site of the damaging effect of this substance. Hyperhomocysteinemia leads to damage and activation of endothelial cells (cells lining blood vessels), which greatly increases the risk of thrombosis. High levels of homocysteine cause “oxidative stress”, increase platelet aggregation and cause activation of the coagulation cascade, lead to disruption of endothelium-dependent vasodilation and stimulation of smooth muscle cell proliferation. Thus, hyperhomocysteinemia has an adverse effect on the mechanisms of regulation of vascular tone, lipid metabolism and the coagulation cascade, thereby contributing to the development of various vascular diseases.
Back in 1969, K.McCully for the first time, observing children with high (more than 100 µmol/l) blood homocysteine levels, noted that they develop early severe arterial lesions. Based on this, it was suggested that a high level of homocysteinemia is a risk factor for the development of both atherosclerotic and thrombogenic vascular lesions.
Causes of an increase in the level of homocysteine in the blood
The most common causes of an increase in the level of homocysteine are vitamin deficiency conditions – lack of folic acid and vitamins B6, B12 and B1. One of the main causes of vitamin deficiency states are diseases of the gastrointestinal tract, accompanied by impaired absorption of vitamins (malabsorption syndrome).
One of the factors is the increased intake of methionine with food. Therefore, the widely practiced administration of methionine tablets, especially to pregnant women, should be carried out with caution, strictly according to indications, taking into account factors that can lead to hyperhomocysteinemia, if necessary, under the control of homocysteine levels.
Consumption of large quantities of coffee is one of the factors contributing to the increase in the level of homocysteine in the blood. Individuals who drink more than 6 cups of coffee a day have homocysteine levels 2-3 µmol/L higher than those who do not drink coffee. Smokers have an increased tendency to hyperhomocysteinemia. Small amounts of alcohol can lower homocysteine levels, and large amounts of alcohol increase homocysteine levels in the blood. Homocysteine levels often rise with a sedentary lifestyle. Moderate physical activity helps to reduce the level of homocysteine in hyperhomocysteinemia.
The level of homocysteine is affected by the intake of a number of drugs (methotrexate, anticonvulsants, nitrous oxide, metformin, h3 receptor antagonists, aminophylline). Adverse effects may have hormonal contraceptives, but these data are not confirmed by all researchers. Some concomitant diseases (kidney failure, thyroid disease, diabetes mellitus, psoriasis and leukemia) contribute to an increase in homocysteine levels.
An important cause of hyperhomocysteinemia is hereditary abnormalities of enzymes involved in methionine metabolism.
High concentrations of the active form of folic acid (5-methyltetrahydrofolate) are needed to convert excess homocysteine to methionine. The main enzyme that converts folic acid to its active form is methylenetetrahydrofolate reductase (MTHFR). Homozygous gene mutation (occurring in different populations in 4-14% of the population) reduces the activity of the enzyme by 50%, resulting in persistent moderate hyperhomocysteinemia. Another common genetic defect leading to hyperhomocysteinemia is a mutation in the cystathionine β-synthase gene. The homozygous mutation, in which the level of homocysteine can reach 400 µmol/l, is rare and leads to severe vascular damage at a young age and early death of patients from atherosclerosis and thrombotic complications. The level of homocysteine in heterozygous carriers of the mutant gene, which is much more, exceeds the norm by 2-4 times.
Diseases associated with hyperhomocysteinemia
Cardiovascular diseases
To date, the pathology of the cardiovascular system remains the main cause of morbidity and mortality among the population throughout the world. In this regard, the search for new risk factors continues, the identification of which would make it possible to influence the mortality rate from these diseases.
Homocysteine is an independent marker of high cardiovascular mortality, comparable to hypercholesterolemia and high blood pressure.
Studies conducted on huge cohorts of tens of thousands of people convincingly demonstrate the role of elevated homocysteine levels as an independent risk factor for the development of atherosclerosis, its thrombotic complications, coronary heart disease, stroke, ischemic vascular disease of the lower extremities, venous thrombosis, and the development of arterial restenosis after angioplasty. Moreover, many studies have also shown a reduction in the risk of relevant diseases or complications when using homocysteine-lowering therapy.
According to clinical studies, an increase in plasma homocysteine concentration by 5 µmol/l increases the risk of cardiovascular diseases and total mortality by 1.3-1.7 times (normal concentration of homocysteine is considered to be 5-15 µmol/l in men and 5 -12 µmol/l in women). The overall increase in the risk of diseases due to hyperhomocysteinemia for cardiovascular risk is 70%, the risk of developing cerebrovascular lesions is 150%, the risk of peripheral vascular obstruction increases 6 times. The relationship of hyperhomocysteinemia with the development of senile dementia (Alzheimer’s disease) is discussed.
Pathology of pregnancy
Microthrombosis and microcirculation disorders lead to a number of obstetric complications. Violation of placentation and fetoplacental circulation leads to reproductive failure – miscarriage and infertility as a result of implantation defects of the embryo. In the later stages of pregnancy, hyperhomocysteinemia is the cause of chronic placental insufficiency and chronic intrauterine fetal hypoxia. This leads to the birth of children with low body weight and reduced functional reserves, the development of complications in the neonatal period.
Hyperhomocysteinemia may be one of the causes of generalized microangiopathy in the second half of pregnancy, manifested as late toxicosis (preeclampsia) with the development of severe, often uncontrollable conditions, sometimes requiring early delivery. The birth of an immature premature baby in these cases is accompanied by high infant mortality and frequent neonatal complications.
Homocysteine crosses the placenta freely and may be teratogenic and fetotoxic. It has been proven that hyperhomocysteinemia is one of the causes of anencephaly and spina bifida.
Hyperhomocysteinemia may be accompanied by the development of secondary autoimmune reactions and is currently considered as one of the causes of antiphospholipid syndrome. Autoimmune factors can interfere with the normal development of pregnancy after the elimination of high homocysteine levels.
Diagnosis of hyperhomocysteinemia
To diagnose hyperhomocysteinemia, the level of homocysteine in the blood is measured. Sometimes loading tests with methionine are used (determination of the level of homocysteine on an empty stomach and after loading with methionine). When a high level of homocysteine in the blood is detected, tests should be performed to detect other risk factors for the development of vascular and obstetric complications.
A homocysteine test can be performed as a screening in apparently healthy individuals to identify a group at increased risk of developing cardiovascular diseases and to take preventive measures to reduce this risk.
Homocysteine test is useful in diabetes mellitus with its tendency to vascular complications.
Given the severity of the possible consequences of hyperhomocysteinemia in pregnancy, it is recommended that homocysteine levels be checked for all women preparing for pregnancy. It is mandatory to determine the level of homocysteine in patients with previous obstetric complications and in women whose relatives had strokes, heart attacks and thrombosis under the age of 45-50 years.
Treatment of hyperhomocysteinemia
When hyperhomocysteinemia is detected, specially selected therapy with high doses of folic acid and B vitamins (B6, B12, B1) is carried out. Since vitamin deficiency is often associated with impaired absorption of vitamins in the gastrointestinal tract, treatment usually begins with intramuscular administration of B vitamins. After the homocysteine level has decreased to normal (5-15 μg / ml), maintenance doses of vitamins per os are prescribed. Such treatment is characterized by the absence of side effects, and in addition, it is incomparably cheaper than the pharmacotherapy of risk factors such as hypertension and hyperlipidemia.
Homocysteine analysis price – donate blood in Moscow in Moscow
Homocysteine is a compound that is synthesized in liver cells from an amino acid called methionine, it affects the formation of bonds in collagen fibers. Violation of collagen production in the lens ligament provokes its subluxation, in the bone matrix – osteoporosis, in the walls of blood vessels – thrombosis.
High levels of homocysteine in the blood of patients (this phenomenon is called hyperhomocysteinemia) is directly related to:
- impaired renal function;
- deficiency in the body of vitamins of group B;
- rapidly developing hypothyroidism;
- genetic defects in enzymes that are involved in the process of homocysteine metabolism.
For patients with diabetes, an increase in homocysteine levels may mean the risk of complications in the work of the organs of the cardiovascular system. Peripheral vessels are especially affected by this, in which such failures manifest themselves in the form of nephro- and retinopathy. An increased amount of homocysteine in the blood also damages nerve cells, it is one of the main factors in the development of depression, Alzheimer’s disease and dementia in the elderly.
During pregnancy, the level of homocysteine in the blood usually decreases – this has a positive effect on the blood circulation processes in the placenta. An increase in its amount can lead to genetic mutations, miscarriages and intrauterine hypoxia of the baby.
Test indications
The most common test for homocysteine is to:
- confirm folate deficiency;
- examinations of patients with a hereditary predisposition to the development of diseases of the cardiovascular system;
- diagnosis of infertility and recurrent miscarriage in women;
- determining the risk of heart attack, stroke, vascular thrombosis in patients;
- diagnosis of hereditary fermentopathy in children;
- control over patients with diabetes mellitus and Alzheimer’s disease.
How is a blood test for homocysteine taken?
To determine its level in the body, it is necessary to donate blood from a vein in the morning on an empty stomach.