Do you struggle to concentrate or feel mentally tired, even after a good night's sleep? If you're constantly feeling that your brain's "hazy," you may be experiencing what is known as "brain fog."
While not a medical term, brain fog is commonly used to describe symptoms caused by underlying health issues or lifestyle factors. It can make it hard to think and feel productive and even affect your mood.
Identifying the root cause of your brain fog can help you find ways to improve your cognitive function and feel more like yourself again.
In this article, we'll explore common signs and symptoms that may indicate you're experiencing brain fog, a self-assessment test for brain fog, and tips for alleviating it.
Brain fog is a commonly reported symptom that affects many people.
It can be described as a feeling of mental confusion or haziness that makes it difficult to think clearly and remember things.
Some people describe it as feeling like their brain is in a fog or cloud, while others may describe it as mentally tired or as if operating on autopilot.
The experience of brain fog can vary from person to person, but it can make it challenging to concentrate, make decisions, and carry out daily tasks.
Brain fog can be a symptom of many conditions, including chronic fatigue syndrome, depression, anxiety, and autoimmune disorders.
Brain fog has many potential causes and can be a symptom of several different medical conditions. Here are some of the most common causes of brain fog:
It's important to note that brain fog can have many potential causes, and it's essential to speak with a healthcare provider to determine the underlying cause and receive appropriate treatment.
The symptoms of brain fog can vary from person to person, but some common symptoms include the following:
It's important to note that brain fog can be a symptom of several different medical conditions.
So, speaking with a healthcare provider is essential if you're experiencing symptoms of brain fog affecting your daily life.
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Note: This questionnaire is not intended to provide a clinical diagnosis. If you are concerned about your symptoms or if they are affecting your daily life, please consult a medical professional.
If you're experiencing brain fog, there are several things you can do to help alleviate the symptoms. Here are five effective tips to alleviate brain fog:
These tips can help alleviate brain fog, but speaking with a healthcare provider is essential if you're experiencing persistent or severe symptoms.
Brain fog can be a symptom of several medical conditions, and getting an accurate diagnosis and appropriate treatment is essential.
Brain fog is a term used to describe a set of cognitive symptoms. It can be due to various factors, from chronic stress to an underlying health condition.
It often presents itself as difficulty in concentration, memory issues, lack of motivation, and frequent headaches.
Some strategies to manage brain fog include getting adequate rest, regular exercise, and eating a nutritious diet.
It is important to consult a qualified healthcare professional if you are experiencing persistent and severe brain fog.
Our gut is a host to a big microbial community that includes both the bad bacteria and the good bacteria. When good bacteria overpowers bad bacteria, our gut is happy, and allโs well. However, do you know what happens when the abundance of bad bacteria increases? Yes, our gut goes kaput, but the imbalance in this microbial community also leads to a higher risk for mental conditions like depression. Keeping this important gut-brain connection in mind, researchers are exploring the idea of โprobiotics for depression,โ and the results seem very promising.
Did You Know? Your ancestry tests DNA data includes 700,000 markers, which can be used to learn everything from disease risk and drug sensitivities to nutritional requirements and fitness parameters, including your risk for various mental health conditions like depression and anxiety. Learn more.
Probiotics are live microorganisms, typically good bacteria or yeasts, that provide health benefits when consumed adequately.
These beneficial bacteria are commonly found in certain foods and supplements and are known for their positive impact on gut health.
Some help us digest our food better, while others are like little soldiers fighting the bad germs that can make us sick. They even make vitamins that our bodies love!
Many of these probiotics are the same or very similar to the microorganisms naturally living inside us.
So when we take probiotics, we give our body some extra backup to stay strong and keep us feeling great!
Probiotics can be obtained from various sources, making them easily accessible in our daily diet. Some familiar food sources rich in probiotics include:
While probiotics share the common characteristic of being beneficial bacteria, not all probiotics are equal in terms of their effects on health.
Different strains of probiotics have specific functions and benefits.
Think of probiotics like a diverse team of tiny helpers.
Some strains may be superstars at promoting good gut health, while others might have special talents in supporting our immune system.
They all work together, but their specific roles can vary.
Each species and strain might impact our bodies differently, so learning more about their unique characteristics is essential.
Probiotics offer many health benefits that can make a real difference in our feelings.
Probiotics are usually well-behaved, causing little to no trouble for most people.
However, some people might initially experience mild issues, like bloating, gas, or diarrhea, after taking the supplements.
But, if you notice any following side effects such as:
Then consult with your doctor before giving probiotics supplements another try.
They'll help determine what's causing the disturbances and suggest a different blend of probiotics or adjust the dosage.
You know that feeling when something big happens, and your gut starts doing flip-flops? Or when stress makes your stomach feel queasy? The real reason behind those sensations is the gut-brain connection at work.
Our gut and brain are like best buddies, always chatting. When we're anxious, depressed, or excited, our gut can feel it too.
It's like our emotions have a direct line to our stomach.
This connection goes both ways.
When our gut is troubled, it can send signals to our brain, affecting our feelings.
When our brain is stressed, it can mess with our stomach, causing gut troubles.
So, neglecting our gut health can also impact our mental health.
Genetic Testing For Mental Health: How To Go About It
Our gut and brain have this incredible connection called the gut-brain axis (GBA).
The GBA links our brain and spinal cord to our gut, where probiotics do their magic. They create neurotransmitters that affect our mood and feeling.
In clinical trials, probiotics like Lactobacillus and Bifidobacterium have shown promise in supporting mental health.
But we're all unique, and so are our gut buddies. How we experience mental health symptoms and how probiotics work for us can differ.
Various factors, such as our genes, life experiences, and the specific combination of gut bacteria, influence our overall mental well-being.
Even though we're still on this exciting journey of discovery, scientists are digging for the right probiotics and dosages to improve mental health.
To comprehend the mechanism behind probiotics for depression, let's split some valuable information to acquire a better grasp.
The effect of probiotics on depressive symptoms: A 2017 systematic review
The researchers looked at 5 databases to see whether probiotics for depression can actually work.
They examined the ten studies that met the criteria, focusing on mood, anxiety, and thinking skills.
Many studies have shown promising results that suggest probiotics can help alleviate depression.
The challenging aspect lies in the fact that each study had a significant variation in the types of probiotics used, the amount consumed, and the duration of consumption.
Interestingly, none of the studies checked how probiotics affected sleep, which is a big deal for people with depression.
Overall, the results look hopeful for using probiotics to help with depression.
However, further studies with larger groups of people are necessary to obtain more definitive conclusions.
The efficacy, safety, and tolerability of probiotics on depression: A 2021 pilot study
The researchers investigated the potential of probiotics to alleviate depression in patients who had not previously received treatment.
The study involved 10 patients with Major Depressive Disorder (MDD) from Kingston, Ontario, Canada.
The participants consumed a probiotic supplement containing a specific strain of bacteria once daily for 8 weeks.
The researchers measured the patient's depressive symptoms at the beginning of weeks 4 and 8.
The results were promising. By week 4, significant improvements in mood-related symptoms were observed, and these improvements continued through week 8.
By week 8, the patients reported improved subjective sleep quality.
The supplement was well-tolerated by all the participants without any side effects.
In a research article published by PubMed in 2016, the most used probiotics with promising benefits for brain health and depression were identified as follows:
The studies included human and animal research with these probiotic doses ranging from 108 to 1010 CFU for 2 weeks in animals and 4 weeks in humans.
The results indicated that these probiotics may positively impact central nervous system function and mental health, showing potential improvements in anxiety, depression, and memory abilities.
However, it is crucial to acknowledge that scientific research is ongoing, and staying updated with the latest results is essential.
Individuals with depression or other mental health concerns should seek guidance from healthcare professionals before considering new medications.
Probiotics, the beneficial bacteria in our gut, can improve mental well-being.
They enhance mood, and memory abilities, boost serotonin production, and improve cognitive function. In addition, probiotics to alleviate depression and anxiety may do so by reducing inflammation.
Different strains of probiotics have specific functions and benefits.
The gut-brain axis plays a significant role in this process.
Probiotics are found in yogurt, kefir, kimchi, sauerkraut, miso, and pickles.
Scientific research suggests probiotics may alleviate depression symptoms.
Further studies with larger groups are needed for more conclusive results.
Consulting healthcare professionals is essential before considering probiotics for mental health.
https://my.clevelandclinic.org/health/articles/14598-probiotics
https://www.healthline.com/nutrition/11-super-healthy-probiotic-foods
https://www.medicalnewstoday.com/articles/probiotic-supplements-may-help-with-depression
https://www.healthline.com/nutrition/8-health-benefits-of-probiotics
https://www.healthline.com/health/probiotics-depression
https://www.health.harvard.edu/diseases-and-conditions/the-gut-brain-connection
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6971226/
https://www.frontiersin.org/articles/10.3389/fpsyt.2021.618279/full
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5319175/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367209/
https://pubmed.ncbi.nlm.nih.gov/27413138/
Too much cholesterol and heart disease risk is a well-established connection. However, a lesser-known link would be that between cholesterol levels and ApoE Alzheimer's risk. Intrigued yet? Turns out, the same genes implicated in Alzheimerโs also have a role to play in cholesterol clearance from the body. A new study has revealed surprising insights into how fluctuating cholesterol levels can increase Alzheimerโs risk.
Did You Know? ApoE gene comes in 3 forms, E2, E3, and E4, each of which affects cholesterol metabolism. One particular form is associated with poor cholesterol removal and a resultant increased risk for heart disease. Watch this video to learn more:
Alzheimerโs is a common type of dementia affecting 5.8 million American adults.
This condition is characterized by memory loss, poor judgment, inability to participate in a conversation, and mood and behavioral changes.
As the condition progresses, it can lead to complete memory loss and the inability to speak, walk, or even swallow.
Beyond 65, the risk of developing the condition doubles every five years.
Currently, Alzheimerโs disease doesnโt have a cure. It can only be managed with medications and intervention strategies.
Cholesterol is a waxy, fat-like substance produced by the liver and found in many food sources.
Cholesterol is an integral component of cell membranes to maintain their fluidity and integrity.
The body also needs cholesterol to make vitamin D, bile acid, and steroid hormones.
Excess cholesterol in the blood can combine with other substances and form plaque.
Plaques are deposits that stick to the inner walls of blood vessels and cause blocks.
Plaque buildup is a common cause of coronary artery disease.
High cholesterol levels are also associated with increased risk of peripheral artery diseases, hypertension, stroke, and high blood pressure.
Genetic Testing For Familial Hypercholesterolemia
The Central Nervous System (CNS) stores up to 25% of the cholesterol levels in the body.
Cholesterol levels play a role in the physiological functioning of the brain.
According to experts, very little dietary cholesterol enters the brain because of the Blood Brain Barrier.
The brain cells synthesize most of the cholesterol that the brain needs internally.
The brain needs cholesterol for the following functions.
Membrane cholesterol plays a vital role in the formation of amyloid-ฮฒ.
Amyloid-ฮฒ is a type of amino acid that is associated with the pathology of Alzheimerโs disease.
In adults, cholesterol is biosynthesized in the astrocyte cells (types of cells in the CNS).
The cholesterol is transported to the neurons via Apolipoprotein E lipoproteins (ApoE lipoproteins).
Synapse formation requires cholesterol transfer from the astrocytes to the neurons. This process is ApoE-dependent.
The ApoE gene helps produce the ApoE lipoprotein.
Mutations in the ApoE gene cause issues in ApoE lipoprotein production.
ApoE Gene & its Genotypes
This can affect cholesterol transfer and may contribute to the development of Alzheimerโs disease.
There are three common isoforms of this gene identified.
In July 2023, research published in the American Academy of Neurology analyzed the relationship between fluctuating cholesterol levels and Alzheimerโs risk.
The researchers picked 11,571 individual healthcare data of people over 60 for the study.
These individuals did not have a previous diagnosis of dementia or Alzheimerโs.
They were followed up for thirteen years to keep track of their fluctuating cholesterol levels and Alzheimerโs risk.
The participants were divided into five groups based on how much or how little their cholesterol and triglyceride variations were.
In the thirteen years of follow-up, 2,473 subjects were diagnosed with Alzheimerโs or other forms of dementia.
The following variables that could affect the risk of developing dementia were adjusted while calculating the results.
The researchers observed that people in the high-fluctuating cholesterol category had a 19% increased risk of developing some form of dementia compared to the low-fluctuation group.
Similarly, individuals with the highest triglyceride fluctuations had a 23% increased risk of developing some form of dementia compared to the group with lower fluctuations.
Did You Know? Your ancestry test DNA data includes 700,000 markers, which can be used to learn everything from disease risk and drug sensitivities to nutritional requirements and fitness parameters, including your risk for Alzheimer's. Learn more.
The following dietary changes can help bring down overall cholesterol and triglyceride levels.
When practiced regularly, low or moderate forms of aerobic exercises can help reduce overall cholesterol levels.
Excess body fat is one of the common reasons for developing high cholesterol and triglyceride levels.
A 2004 systematic review reports that for every 10 kilograms of weight lost in obese and grossly overweight individuals, a drop of 0.23 mmol of cholesterol could be noticed.
Smoking can increase overall cholesterol and triglyceride levels in the body.
Quitting smoking is critical for individuals with high cholesterol levels.
When lifestyle changes arenโt showing effects, or in the case of severely high cholesterol and triglyceride levels, medications to lower cholesterol levels may help.
Some of the common types of cholesterol-lowering medications include the following:
Many research studies report that increased High-Density Lipoprotein (HDL) levels may reduce the risk of Alzheimerโs disease.
HDL, also called good cholesterol, helps carry bad cholesterol from the bloodstream to the liver to help flush them out.
Animal-based studies report that higher levels of HDL may help protect against neuroinflammation and memory deficits.
Other studies report that HDL prevents the vascular accumulation of amyloid-ฮฒ, a risk factor for developing Alzheimerโs disease.
Increasing HDL cholesterol levels and avoiding overall fluctuating cholesterol levels can reduce Alzheimerโs risk in older adults.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264368/
https://pubmed.ncbi.nlm.nih.gov/12648780/
https://www.sciencedaily.com/releases/2023/07/230705171104.htm
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682969/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6844833/
https://pubmed.ncbi.nlm.nih.gov/22269162/
https://www.ncbi.nlm.nih.gov/books/NBK459119/
https://www.nia.nih.gov/health/alzheimers-disease-genetics-fact-sheet
https://pubmed.ncbi.nlm.nih.gov/14969506/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236809/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530968/
https://www.sciencedaily.com/releases/2023/07/230705171104.htm
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264368/
Navigating the intricate pathways of genetics has never been more approachable, thanks to advances in technology like those offered by Invitae Genetic Testing. As one of the industry leaders, Invitae presents an enticing opportunity to dig deeper into your DNA. However, before diving headfirst into the realm of personal genomics, it's essential to be fully aware of the comprehensive services Invitae provides, their implications, and the considerations you need to make. This blog post will offer an in-depth review of Invitae Genetic Testing, ensuring you have all the information necessary to make an informed decision.
Invitae, with its headquarters set in San Francisco, California, is a medical genetics company founded by Randal W. Scott and Sean E. George in 2010. Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory.
The company offers gene panels and single-gene testing for a broad range of clinical areas, including hereditary cancer, cardiology, neurology, pediatric genetics, metabolic disorders, immunology, and hematology.
Invitae has special tools for medical professionals that help them record family history and provide appropriate genetic testing recommendations.
Invitae offers 4 categories of tests for its users:
Provides information relevant to pre-pregnancy and pregnancy-related decision-making.
It includes the following tests:
Provides information to develop a personalized health plan for cancer and heart disease.
It includes the following tests:
You can order any or all of these tests.
Provides information to help your physician plan an effective treatment.
Looks at 65 genes associated with common cancers
Provides information that helps diagnose and understand the inheritance of various health conditions.
It includes a variety of health conditions grouped under:
Invitae offers a bunch of tests for medical professionals, grouped under the following categories:
Provides genetic information to help professionals tailor chemotherapy and other treatment plans for their patients.
It covers multiple panels, including:
You can view the entire list here.
Provides information that helps medical professionals give insights regarding pre-pregnancy, infertility, and other pregnancy issues.
The tests are grouped under 2 packages:
Provides information to enable medical professionals to inform prognosis, treatment, and next steps for those with rare diseases.
Available panels:
Invitae also offers an RNA-testing feature, which incorporates testing into the variant classification process for variants of uncertain significance (VUS). A VUS is a genetic change in a sequence whose association with disease risk is unclear.
Invitae also offers exome testing options that provide more accurate and reliable results. Exons are a segment of a DNA or RNA molecule containing information coding for the protein. The exome is the part of the genome that consists of exons. It is estimated that the vast majority of disease-causing DNA changes are found in exons.
It includes the following testing options:
Users can choose any test from the options provided and place an order. Once you order, an independent physician will review your health history and approve the test if appropriate.
Once your doctor approves the test, you can sign up with/sign in to your account.
Once your email is verified, you can register a kit using the confirmation code.
Invitae Kit Registration
You can learn about specimen collection and shipping here.
The diagnostic tests under this category may be covered by insurance.
The report begins with a section with patient information and sample collection details (same for all reports).
If it is a "positive result," the next section contains information about the pathogenic variant identified.
The next section of the report helps users with the next steps after encountering a positive result.
The website also has a "Positive Result FAQ" guide.
Invitae Carrier Screening
A carrier is an individual that carries one copy of a gene with error(s) associated with a disease, which can be passed down to a child.
If it is a positive result, the report includes information about the variant and the mode of inheritance.
Image: Snippet from Invitae sample carrier screening report
The report also comes with information about the condition and the recommended next steps.
It gives insights into what you can do if your partner tests positive for the same condition.ย ย
Invitae Non-invasive prenatal testing
This test covers common genetic disorders, like Down Syndrome, that result from additional or missing pieces of genetic material in the genome.
The report identifies aneuploidies (if present) in chromosomes 13, 18, 21, and sex chromosomes.
Aneuploidy is the presence of an abnormal number of chromosomes.
It is followed by the "next steps" section.
The report ends with the "Limitations" and "Disclaimer" sections.
Cancer Screen: The report includes information on 61 genes associated with common cancers like breast, ovarian, and prostate cancer.
Cardio Screen: This test looks at 75+ genes known to influence the risk of many inherited heart diseases like hereditary high cholesterol levels.
Genetic Health Screen: The report provides information on over 145 genes associated with many inherited conditions.
Image: Comparison of the tests in Invitae Proactive/Staying Healthy Pack
| Test | Price |
| Invitae Cancer Screen | $299 |
| Invitae Cardio Screen | $299 |
| Invitae Genetic Health Screen | $350 |
Many of the invitae diagnostic tests may be covered by insurance.
The company also offers Medicare and Medicaid beneficiaries for patients residing in the US if they meet the eligibility criteria.
Invitae offers testing at little or no expense for patients who qualify through their Patient Assistance Program.
Invitae also offers sponsored testing, partnering with biopharma companies like Alnylam to provide genetic testing for selective genetic diseases for patients who meet eligibility criteria.
The company claims that they do not sell or share usersโ identifiable data with any third parties. However, they share information about genetic variants and anonymized genetic information with service providers, business partners, and third-party or public databases for research purposes. In addition, Invitae allows users to alter their privacy settings manually.
Invitaeโs privacy policy may change from time to time, with updates posted on the website.
| Invitae | Xcode Life | |
| DNA kit | Provided | Not provided |
| DNA raw data upload | Not allowed | Allowed |
| DNA data exploration tools | Not available | Available |
| Report updates | No | Quarterly |
| Report price | $250 or $350 | Individual reports: $30 - $50 Bundle packs: $160 - $199 |
| Diagnostic | Yes | No, but the reports are a powerful tool physicians can use to make health recommendations. |
| Report categories | Hereditary cancer, Cardiology, Neurology, Pediatric Genetics, Metabolic disorders, Immunology, and Hematology | Nutrition, Fitness, Skin, Allergy, Health, Personality, Breast Cancer, MTHFR, Personalized Medicine, Sleep, Genetic Reports |
Blood clotting is an important process that keeps you from losing a lot of blood when you have an injury. But what if they happen too often and last too long? Thrombophilia, a condition characterized by frequent blood clot formation, can be life-threatening if left untreated. Fortunately, both acquired and hereditary thrombophilia can be managed with blood thinners in most cases. This article will explore the genes and changes in them that may increase your risk for this condition.
Did You Know? Your ancestry test DNA data includes 700,000 markers, which can be used to learn everything from disease risk and drug sensitivities to nutritional requirements and fitness parameters. Learn more. Here's how 23andMe and AncestryDNA users have benefited from uploading their DNA data to Xcode Life
Thrombophilia is a blood clotting disorder that increases the risk of blood in veins and arteries clotting.
This condition is also called โhypercoagulableโ as it causes the blood to clot more easily.
When blood clots occur due to thrombophilia, they block the arteries and veins, preventing adequate blood supply to or from organs and tissues.
One of the main causes of thrombophilia is genetics. However, it may be caused by other factors too.
A few medical conditions that may cause thrombophilia include:
Thrombophilia does not cause signs or symptoms until it forms a clot that affects an organ or tissue.
The signs and symptoms depend upon the organ or tissue affected by the blood clot.
Deep vein thrombosis
One of the most common presentations of thrombophilia is the development of a clot in a vein, causing Deep Vein Thrombosis (DVT).
DVT can occur anywhere in the body but most commonly affects the large veins in the leg.
A few symptoms that may occur due to DVT are pain and swelling in the leg.
Pulmonary embolism
If the blood clot travels to the lung, it can result in pulmonary embolism.
Symptoms you may experience due to this condition include chest pain, breathing difficulty, shortness of breath, painful deep breathing, and an increased heart rate.
Blood clot in the abdomen
Nausea, vomiting, and pain in the region are the most common symptoms of thrombophilia.
Blood clots in the heart
If a blood clot develops or travels to the heart, you may experience chest pain, shortness of breath, sweating, nausea, and lightheadedness.
Thrombophilia can be acquired or genetic (inherited).
Acquired Thrombophilia
This type of thrombophilia is more common than the inherited type.
It is said to be โacquiredโ as one acquires it during their lifetime due to lifestyle factors, medications, or other diseases.
The most common type of acquired thrombophilia is antiphospholipid syndrome.
Hereditary Thrombophilia
As the name suggests, this form of thrombophilia occurs due to the inheritance of affected genes from one or both parents.
People who inherit the affected genes are unable to make one or more clotting factors, which results in thrombophilia.
For example, some women who have had recurrent miscarriages before the age of 40 years may have inherited thrombophilia.
There are different types of hereditary or genetic thrombophilia:
Hereditary thrombophilia is genetic.
Two of the most common genetic variants associated with hereditary thrombophilia are found in two genes - F5 and F2.
Both these genes are required for the normal clotting process.
The coagulation or blood clotting system in the body is controlled by several proteins and molecules.
The F5 gene provides instructions for making a protein called coagulation factor V.
This protein circulates in the blood in its inactive form till it reaches the liver, where it is activated.
When activated coagulation factor V combines with activated factor X, they form a complex that converts prothrombin to its active form, thrombin.
Thrombin, in turn, converts a protein fibrinogen to fibrin, which is what forms a blood clot.
Coagulation factor V also has another role.
It regulates the clotting mechanism by interacting with activated protein C (APC).
This protein inactivates coagulation factor V, slowing the clotting process and preventing clots from growing too large.
However, in some people with factor V Leiden thrombophilia, coagulation factor V cannot be inactivated by APC.
Due to this, the process of clotting remains active for longer, increasing the risk of developing abnormal clots.
The F2 gene is responsible for coagulation and maintenance of vascular integrity.
It also provides instructions for making the protein prothrombin (or coagulation factor II).
Prothrombin thrombophilia is caused by an abnormal change (or mutation) in one of the building blocks of the DNA in the F2 gene.
This causes the F2 gene to be overactive and produce more prothrombin.
An abundance of prothrombin means excess thrombin, fibrinogen, and fibrin (or clot).
So, the presence of the F5 variant (or the factor V Leiden) and the F2 variant of the genes increase the risk of blood clot formation that can block blood flow to different parts of the body.
In some cases, thrombophilia may be due to large deletions or duplications in the following genes:
Thrombophilia may have an autosomal dominant, autosomal recessive, or X-linked inheritance.
Antiphospholipid syndrome (APS), the most common and aggressive form of acquired thrombophilia, is an autoimmune disease.
It is a condition that causes blood clots to form in the blood vessels and causes serious health problems.
In APS, the bodyโs immune system attacks a type of fat molecule called phospholipids.
Phospholipids are found on the surface of many cells, including those lining the blood vessels.
This causes abnormal blood clots to form in the blood vessels.
Besides genetics, a few factors that may increase oneโs risk of developing thrombophilia are:
Since blood clots can affect any blood vessel in the body, they can prevent the smooth flow of blood to many tissues and organs.
This can lead to complications like:
A thorough medical history, a physical examination, and blood tests to check for a genetic cause of thrombophilia can help diagnose thrombophilia.
Your doctor may recommend genetic testing if someone in your family has thrombophilia.
Besides blood and genetic testing, your doctor may also advise angiograms, venograms, or an ultrasound to detect the presence of clots in your blood vessels.
There is no cure for genetic or hereditary thrombophilia.
However, the signs and symptoms can be effectively managed with:
Medications
Medications routinely used for treating thrombophilia include anticoagulants like heparin and warfarin.
Warfarin is an oral drug that takes a few days to show its effects.
When you have many clots that need urgent treatment, you may need a fast-acting drug like heparin that is usually injected.
Use of compression stockings
Both types of thrombophilia may require the use of compression stockings for your legs to prevent the breaking up of a clot.
Some people may require surgery to remove the clot.
Practice healthy lifestyle habits
If you have thrombophilia, you must make a few lifestyle changes, like eating a nutritious diet, maintaining a healthy weight, exercising regularly, and avoiding long periods of rest or inactivity.
These tests usually include a prothrombin time test and an international normalized ratio (INR).
If you have thrombophilia, your doctor will advise you to eat a healthy diet.
Here are some foods that you may need to stay clear of:
If you are on blood thinners like warfarin, you must consume foods rich in vitamin K in moderation.
This is because vitamin K is known to interact with warfarin.
Did you know genetics play a significant role in migraines? Around 60% of people get migraines because of the genes they inherit. One type of genetic headache is familial hemiplegic migraine (FHM). Recent scientific studies have identified two novel genes linked to FHM, providing a deeper understanding of the genetic factors at play.
Did You Know? Your ancestry test DNA data includes 700,000 markers, which can be used to learn everything from disease risk and drug sensitivities to nutritional requirements and fitness parameters. Learn more.
Hemiplegic migraine is a rare and debilitating form of the disease that causes weakness on one side of the body during the aura phase.
This type of migraine features an aura, the second phase of a migraine attack.
Migraine aura is the sensory symptoms that occur before or during a migraine episode.
They may include neurologic, gastrointestinal, and autonomic symptoms.
Familial hemiplegic migraine (FHM)is a type of inherited hemiplegic migraine.
FHM attacks occur more frequently in younger individuals.
The frequency of the migraines reduces with age.
FHM usually begins in childhood or adolescence.
It is classified into four types, namely:
This is the most common type of FHM.
It is caused by genetic changes in the CACNA1A gene and is commonly associated with cerebellar degeneration.
This type of FHM occurs due to genetic changes in the ATP1A2 gene and may be linked to seizures.
This form of disease occurs due to mutations in the SCN1A gene.
FHM is said to be type 4 when caused by a genetic change that is currently not identifiable to cause the condition.
Why You Get Migraine During Your Period - New Study
FHM is caused by mutations (abnormal changes) in the CACNA1A, ATP1A2, SCN1A, and PRRT2 genes.
CACNA1A, ATP1A2, and SCN1A provide instructions for making proteins involved in transporting ions across cell membranes.
The movement of these ions is essential for the normal signaling between nerve cells in the brain and the functioning of the nervous system.
Though the exact function of the PRRT2 gene is unknown, it may be involved in controlling the signaling between neurons.
Any changes in the genes mentioned above can affect the signaling between neurons, leading to FHM.
CACNA1A, ATP1A2, SCN1A, and PRRT2 do not play a role in the development of common migraines.
FHM falls under the category of migraines with aura.
In migraines with aura, neurological symptoms are localizable to the cerebral cortex or the brain stem and include:
Neurological effects of familial hemiplegic migraine can last for hours to days, often longer than those associated with a migraine headache.
Around 40% to 50% of families with the CACNA1A FHM variant show cerebellar signs ranging from nystagmus to late-onset mild ataxia.
Other symptoms that one may experience with FMH include:
FHM is diagnosed when an individual has at least one 1st or 2nd degree relative in the family who also suffers from the same condition.
This shows FHM is caused by affected genes.
FHM is considered to be monogenic (caused by the inheritance of a single gene mutation) but genetically heterogeneous.
FHM is inherited in an autosomal dominant pattern.
This means having even one altered (or mutated) gene is sufficient to cause the condition.
In most cases, people who develop the condition have at least one affected parent.
However, some people who inherited the altered gene do not develop the features of FHM.
Hemiplegic migraine is a complex disorder with multiple genetic factors.
Currently, there are three genes known to cause FHM.
In 2023, Professor Lyn Griffiths (Director of the QUT Center for Genomics and Personalized Health) and scientists from Leiden University used genome sequencing to find two new genes involved in hemiplegic migraine.
The two genesโ CACNA1H and CACNA1I- are ion channel genes that control calcium levels in the brain, affecting neurotransmitter (brain chemicals) release.
According to Professor Griffithโs study, hemiplegic migraine was associated with an increased burden of mutations in the number of variants in the said genes.
These genes modify the risk of hemiplegic migraine, supporting the hypothesis that the disease has a complex heritability.
While genetics is the primary cause and risk factor for FHM, some factors that may trigger a migraine attack are:
Stress is a common trigger factor for people with FHM.
Stress can be physical (due to exercise or sleep deprivation) or emotional (due to financial problems, relationship issues, etc.).
Many people with migraine who are sleep deprived or suffer from insomnia experience frequent attacks.
Hormonal fluctuations are the most common triggers for FHM.
These fluctuations are more common in women, especially during menstruation and pregnancy.
Hormonal fluctuations can also trigger other factors like stress and sleep.
The bodyโs reaction to changes in the temperature, barometric pressure, or humidity due to weather changes may cause migraine.
Temperature changes are more likely to trigger hemiplegic migraine than pressure and humidity, but the latter may have a role to play.
Some foods may trigger a FHM attack.
These include foods high in nitrates (hot dogs, deli meats, and cured meats) and caffeine-containing foods like chocolate, coffee, or caffeinated beverages.
Alcohol may be a trigger for some people, and it must be avoided if experiencing a headache.
If your doctor suspects your condition to be FHM based on your signs, symptoms, and family history, they will recommend the following tests:
Genetic testing helps confirm the subtype of FHM in the family.
To be diagnosed with FHM, you must have at least one 1st or 2nd degree relative with the condition.
Treatment and management of FHM usually involve:
In people with hemiplegic migraines, the aura symptoms resolve completely between two separate occurrences.
Hemiplegic migraines rarely cause permanent neurological symptoms, cognitive impairment, or coma.
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The symptoms of hemiplegic migraine mimic a stroke, causing weakness on one side of the body.
The migraine aura can be mistaken for a transient ischaemic attack (TIA), where someone has stroke symptoms that usually pass in a short time.
For this reason, they may appear to be mini-strokes.
Stress is a leading factor that can trigger hemiplegic migraines.
Physical and emotional stress can both trigger a hemiplegic migraine attack.
While most people with sporadic hemiplegic migraines recover entirely between episodes, some neurologic symptoms, like memory loss, can last for weeks or months.
Mild to moderate intellectual disability has been reported in a few people with sporadic hemiplegic migraine.
Hemiplegic migraines are more common in younger individuals.
The frequency of these migraine attacks decreases as one grows old.
A deficiency of vitamin D and calcium have been linked to migraine.
Vitamin D plays a role in fighting inflammation in the brain and reduces the production of chemicals that may cause a migraine attack.
