Home / Learn More / Understanding Genetics of Thrombophilia / Inheritance & Testing

Understanding Genetics of Thrombophilia / Inheritance & Testing

Thrombophilia is a hereditary or acquired predisposition to develop blood clots. It is also referred to as hypercoagulation state or hypercoagulability. Below is a list of NBCA resources and articles related to genetic testing:

Talk to your healthcare provider about any questions you might have about genetic testing, and get more information and guidance from a genetic counselor. You can search for a genetic counselors in your local community here: Find a Genetic Counselor

Current News

COE Press Release News Post (1)

NBCA Names Corewell Health the Inaugural NBCA VTE Center of Excellence

The NBCA VTE Centers of Excellence designation recognizes excellence in clinical outcomes, patient education, and post-hospitalization patient care for blood…

Get the full story »

Jen's Stuff - 2024-03-18T100705.564

Blood Clot Awareness Month Just Got Bigger and Brighter!

We are absolutely thrilled to reveal that the National Blood Clot Alliance has a public service announcement on the seven-story-high…

Get the full story »

Get more news »

Follow us on Instagram

stoptheclot

Advancing blood clot awareness, prevention, diagnosis, and successful treatments to #stoptheclot.

"In January 2017, my husband Brian and I had been

"In January 2017, my husband Brian and I had been married for one year, and I had just given birth to our son seven weeks earlier.

Brian started mentioning that he had bad calf pain. For a man that never complained, this was odd, but I didn’t know to be worried.

The day before Brian died, we had our first day date out away from the baby. We went to the movies and to Target, and I remember him saying his neck hurt. I was not alarmed by this, because unfortunately I was not aware of the signs of a blood clot.

The next morning, Brian woke up with the baby and called for me. When I reached him and took our son, Brian collapsed. I called 9-1-1, and Brian was in and out of consciousness. On the way to the hospital, he passed away.

After his death, we found out he had factor V Leiden. Our son Carter, who is now 7, tested positive as well as Brian’s dad and sister.

I am raising our son without his dad and we grieve the tremendous loss every day.

My advice to others is to be aware of symptoms and if in doubt, please be vocal and just go get yourself checked. If you have a family member who has had a blood clot, discuss genetic testing with your doctor, as it is hereditary. Knowledge will save lives!"

Read more patient stories at the link in bio.

#stoptheclot #stoptheclotstory #bloodclots #pulmonaryembolism #pe #fatalpe #bloodclotawareness #bloodclotprevention #factorvleiden #bloodclottingdisorder

Today is National Tell a Story Day, a time to shar

Today is National Tell a Story Day, a time to share a story of your own or listen to the stories of others. For years, we’ve been giving blood clot patients and loved ones a platform to tell their stories on our website, within our educational programs, and through our advocacy efforts.

Sharing your blood clot story helps to raise awareness about the signs and symptoms of blood clots, provides insight on the signs and symptoms, the mental and physical recovery process, and offers hope to others who are walking the same path.

If you’ve shared a story with us, thank you! If you would like to share your blood clot story, you can do so at the link in bio.

#stoptheclot #bloodclots #bloodclotstory #patientstory #nationaltellastoryday #storytelling #patientstory #stoptheclotstory #bloodclotawareness

"In 2013, I woke up with what I thought was a stom

"In 2013, I woke up with what I thought was a stomach virus. A few hours later, I was in the ER with a diverticulitis attack that split open my intestine and spent 10 days in the hospital.

A few months later, I had another diverticulitis attack, but I caught it early and didn’t require hospitalization. As a result, it was determined that I needed a colon resection surgery.

This surgery was successful, but while recovering at home, I developed my first DVT in my right leg. I figured my leg was just stiff and sore from not being active and I tried to walk off the soreness.

Well, it got to the point where I couldn’t even stand up. A sonogram showed I had a DVT and was admitted back to the hospital. I was discharged seven days later with a diagnosis of factor V Leiden (homozygous) and a prescription for warfarin. I remained on warfarin for a year.

After consulting my hematologist, it was determined that because my clot was a provoked clot and I have an active lifestyle, I was more at risk of bleeding being on warfarin than having another blood clot.

Eight years later, in February 2023, I developed a second DVT, but in my left leg this time. However, I didn’t have the excruciating pain like last time, which would have tipped me off.

I did notice that I was losing my breath when climbing stairs or riding my bike, but I would recover quickly. I figured I was in my late 50s and just feeling my age.

What finally scared me to the ER was when I was at a high school wrestling tournament two hours away from my home and I was unable to catch my breath walking from the car to the arena and then up stadium stairs to my seat. I told my buddy we need to leave. We drove two hours home, I immediately went to ER, and was diagnosed with a saddle PE and admitted to hospital.

In terms of family history, my daughter was also diagnosed with factor V Leiden.

This experience has taught me that as I get older, it’s important to listen and react to my body."

Read more patient stories at the link in bio.

#stoptheclot #stoptheclotstory #bloodclots #dvt #deepveinthrombosis #pe #pulmonaryembolism #bloodclotsurvivor #bloodclotawareness #bloodclotprevention

Attention, women: Have you ever been dismissed, yo

Attention, women: Have you ever been dismissed, your medical concerns downplayed, or felt as if you’re not taken seriously when you describe your symptoms in a healthcare setting?

This is medical gaslighting, and it’s a far more common experience for women than men. In fact, many female blood clot patients report being misdiagnosed or sent home without an exam because healthcare professionals dismissed their concerns, which can result in life-threatening complications.

This will be one of the many topics that we’ll discuss during our next PEP Talk in recognition of Women’s Health Month on Tuesday, May 14 at 7 p.m. Other topics will include Opill, the new estrogen free over-the-counter oral contraceptive; women’s mental health after a blood clot diagnosis; heavy menstrual bleeding on anticoagulants; new discussions around the safety of hormone replacement therapy for individuals with a history of blood clots; and much more.

Dr. Anna Parks, assistant professor at the University of Utah Division of Hematology and a member of NBCA’s Council of Emerging Researchers in Thrombosis, will serve as our medical expert.

Join us for this informative discussion, and bring your questions! Register at the link in bio.

#stoptheclot #bloodclots #peptalk #bloodcloteducation #bloodclotawareness #womenandbloodclots #pregnancy #birthcontrol #estrogen #menopause #bloodclotprevention #HRT #menstrualbleeding #medicalgaslighting #contraception

"In November of 2022, I was driving home from work

"In November of 2022, I was driving home from work when out of nowhere, my heart started hammering and went out of rhythm.

I made it home and told my partner that I wasn’t okay and needed to go to the ER immediately. We got as far as the local urgent care where I told him to stop. They called me an ambulance as I was experiencing atrial fibrillation, which had never happened before.

The next morning, my heart slipped back into rhythm and all was well. No formal diagnosis or reason was given, just an order to check in with a cardiologist.

Four days later, I woke up at home and couldn’t breathe. I was weak and felt like I was going to pass out. There was no pain, so I wasn’t sure what was happening. I just felt like I was suffocating and I was terrified.

We drove back to the same local ER. They ran some tests as I waited there for six hours. When the doctor did come back, they told me I was having a heart attack and that they were transferring me to another hospital.

Once at the new hospital, a very young doctor came in. He took a good look at my charts and then at me, and said, 'You’re NOT having a heart attack.' He sent me for an immediate CT scan where they found sub-massive bilateral pulmonary emboli, which had caused right heart strain.

I was treated with heparin in the hospital and was there for a week. Luckily they did not find any DVTs, and I was finally cleared to leave and was released on an oral anticoagulant.

After further genetic testing, no direct cause for my clots was ever found. My pulmonologist is a firm believer that my atrial fibrillation was caused by the clots and not vice versa, as they were too extensive and established.

Now I am a lifer on oral anticoagulants, which I am okay with. I am thankful every day that my second doctor was so well-trained in diagnosing and treating blood clots. I might not be here to tell the story otherwise."

Read more patient stories at the link in bio.

#stoptheclot #stoptheclotstory #patientstory #bloodclotstory #bloodclotawareness #bloodclotsurvivor #bloodclotprevention #pulmonaryembolism #pe #afib #heartattack #misdiagnosis #pulmonaryemboli

NEW EPISODE! Episode 7 of Taking a Breath: A Stop

NEW EPISODE! Episode 7 of Taking a Breath: A Stop the Clot podcast is now available on all major podcast platforms.

In this installment, listeners will hear from Jennifer Smith, CEO of Everything Podcasts. She spent six months training for the Tough Mudder athletic endurance competition only to break her ankle just as she was about to finish the course.

Doctors told Jennifer to rest and stay still to allow the bone to fuse back together. But after more than a week of being immobile, she began to have a different pain in her leg. Instead of her ankle, though, it was in her calf.

This experience changed Jennifer’s life. Listen to her story at the link in bio.

@everythingpodcastsstudios

#stoptheclot #takingabreath #bloodclots #bloodclotpodcast #dvt #deepveinthrombosis #pts #postthromboticsyndrome #podcast #everythingpodcasts #bloodclotawareness

On October 25, 2017, Cydney Cobb’s 21-year-old d

On October 25, 2017, Cydney Cobb’s 21-year-old daughter Madison died suddenly of a massive pulmonary embolism. Since then, every March during Blood Clot Awareness Month, Cydney organizes a small walk in her memory, the “March for Madison,” to raise funds and spread awareness. This year the walk was held on March 30 and raised over $500, enough to sponsor an NBCA Thrombassador for an entire year.

“Madison did have all the classic signs and symptoms of a pulmonary embolism,” Cydney said. “She saw her doctor the day preceding, and was unfortunately misdiagnosed. If we had known her risk factors and the signs and symptoms, her death could have been prevented. Though I have suffered the loss of my child, I will continue to advocate all of my days in hopes my efforts could potentially save someone else’s.”

Thank you, Cydney and family, for your loving remembrance of Madison, your generosity, and your selfless dedication to spreading life-saving blood clot awareness.

#stoptheclot #marchformadison #bloodclots #bloodclotadvocacy #bloodclotawareness #fatalpe #pulmonaryembolism

Health equity means that everyone has a fair and j

Health equity means that everyone has a fair and just opportunity to be as healthy as possible. This requires removing obstacles to health, such as poverty and discrimination. Community-centered care is essential to address the alarming state of racial health disparities in the U.S. today. We are proud to work alongside @jnjhealthequity to promote health equity.

#stoptheclot #minorityhealthmonth #NMHM2024 #NMHM #jnj #healthequity #bloodclots #bloodclotawareness #bloodclotprevention #equalaccess

"My younger sister Marsha had many blood clots ove

"My younger sister Marsha had many blood clots over the years. She found out that she had protein S deficiency shortly after our father died in 1998. She had veins that were painful and found a doctor who was willing to strip them (phlebectomy).

Marsha asked him about her history with clots. The doctor told her not to worry and after the surgery she would no longer have clots. So, she had the surgery.

She came home and felt fine. She sent me an email that all was good. Shortly after reading the email, I had a call from another sister that Marsha was being life-flighted to a large hospital.

I called around and finally managed to talk to my mother. She was sobbing and told me Marsha never made the flight. She had coded four times in the ambulance and passed away.

It turns out that she had multiple pulmonary emboli in both lungs due to the surgery releasing them from her legs.

She left behind two young adult children and three grandchildren. Marsha was only 47.

Marsha’s son also has protein S deficiency and has had a DVT and PE. I have protein S deficiency, as do my son and daughter. My daughter has had a PE and my son has had a DVT and both are on blood thinners.

I worry about my grandchildren potentially having problems. I am cautious about what I do, but the worry is always there.

If your family has a history of clotting disorders, please get tested yourself. If you experience any of the signs of a clot get to the doctor immediately. Don't wait until it is too late."

Read more stories at the link in bio.

#stoptheclot #stoptheclotstory #varicoseveins #phlebectomy #fatalpe #pulmonaryembolism #bloodclotawareness #bloodclot #proteinSdeficiency

Proving #bloodclot survivors can do ANYTHING @nell

Proving #bloodclot survivors can do ANYTHING @nellykorda is chasing history this weekend at @thechevronchampionship @stoptheclot is rooting for you @nellykorda !! @lpgatour @espn @delta @goldmansachs @nike @taylormadegolf @tmobile

* Today, Anna Frutiger’s sorority, Zeta Alpha Pi

* Today, Anna Frutiger’s sorority, Zeta Alpha Pi at Kenyon College in Gambier, Ohio, is hosting their annual 5K Color Run to benefit the National Blood Clot Alliance in memory of Anna.*

"Anna embodied brains, beauty, compassion, and athleticism, and seemed the picture of health while she was living her dream of becoming a dentist. No one expected that a blood clot would end her life, and it seemed beyond belief that Anna died on May 20, 2010 from a pulmonary embolism (PE) due to an undiagnosed deep vein thrombosis (DVT), a month after her 23rd birthday.

Anna felt pain behind her knee and in her calf four months before she died and attributed it to her half marathon training. Her friends at dental school noted that she limped, and Anna became short of breath when she ran.

Anna saw an orthopedic surgeon who found no injury to suggest a muscle pull. After a thorough physical and review of her medical history, her doctor suspected a blood clot in her lower leg. Anna’s only known risk factor was that she was taking a third generation birth control pill. Results of an ultrasound/Doppler of her leg were negative for DVT. At a follow-up three weeks later, her leg was normal shape and size, and she no longer felt any leg pain. As a result, her doctor discharged her.

After her first-year finals at the University of Pittsburgh School of Dental Medicine, Anna traveled quite a bit. She flew for six hours over two consecutive weekends, then went to see friends in New York City the next two weekends, which involved an eight hour bus trip with one 10-minute stop. Anna complained of not being able to breathe easily when she carried groceries up to her apartment right after the bus trip. She told her parents that her symptoms were probably stress–related...."

Anna's full story at the link in bio.

#stoptheclot #stoptheclotstory #bloodclots #pulmonaryembolism #fatalpe #kenyoncollege #zetaalphapi #colorrun #bloodclotawareness #5k #charityrun

Blood, the journal of the American Society of Hema

Blood, the journal of the American Society of Hematology, published a paper in its April edition on the new class of anticoagulants currently under development that seek to prevent blood clots without putting patients at risk of bleeding.
This new class of anticoagulants inhibit a protein called factor XI, one of the several blood factors that regulates how the body forms clots.

The body generates two types of clots — good ones that stop bleeding caused by external injuries, and bad ones that develop inside veins and arteries.

Factor XI is involved in the formation of bad blood clots, or thrombosis. But researchers now believe that factor XI, unlike other blood factors, plays a minimal role in forming the good clots that stop bleeding. This suggests that drugs against it could prevent the bad clots without significantly disrupting the process that causes good clots, minimizing the bleeding risk associated with anticoagulants.

Read the research at the link in bio.

#stoptheclot #bloodclots #anticoagulants #factorxi

"I had my beautiful baby boy on August 26, 2023. I

"I had my beautiful baby boy on August 26, 2023. I had a low-risk pregnancy and a water birth with no complications.

At 2.5 weeks postpartum, I began to get a headache that I assumed was from sleep deprivation. As a migraine sufferer, I am used to severe headaches and had not been on my preventative medication for 12 months. I contacted my GP who advised it was probably a migraine.

However, my midwife saved my life when the next day she came to see me and insisted I go to Maternity Triage to get seen ASAP, and I was then able to take my newborn with me.

They quickly saw me and got me scanned. While I was feeding my newborn I was told I had an extensive blood clot in my brain known as a cerebral venous sinus thrombosis or CVST. I asked if I was going to die, to which they said they caught it just in time and started me on high-dose blood thinners.

The whole experience was very traumatic. I was low risk and had no clotting disorders, so the likelihood of this happening to me was so slim.

I was back in the hospital a month later with worsening symptoms but, luckily, they saw that the clot had started to disperse.

I was then on blood thinners for three months before having a clear CT scan. I am now six months post-CVST and still suffer from migraines as well as intracranial tension, sight issues, and medical PTSD.

I am hoping my story will urge more women to advocate for themselves during pregnancy and the postpartum period. If it wasn’t for my midwife, I wouldn’t be here today."

Read more patient stories at the link in bio.

#stoptheclot #stoptheclotstory #bloodclots #pregnancy #postpartum #fourthtrimester #cvst #midwife #brainbloodclot #bloodclotawareness #bloodclotprevention #bloodclotsurvivor #severeheadache #PTSD

Throughout their lives, women face crucial choices

Throughout their lives, women face crucial choices that can contribute to their risk of life-threatening blood clots. That risk is increased if she previously experienced a clot, has a family history of blood clotting, or has been diagnosed with a genetic or acquired clotting disorder.

In recognition of Women's Health Month, join us for our May PEP Talk on Tuesday, May 14 at 7 p.m. as we explore this topic. Register at the link in bio!

#stoptheclot #bloodclots #peptalk #womenandbloodclots #pregnancy #birthcontrol #hormonereplacementtherapy #hrt #menopause #knowyourrisk #bloodclotprevention

Thank you, Temple Health, for reporting on NBCA’

Thank you, Temple Health, for reporting on NBCA’s behind-the-scenes involvement in the Charles Rochester Blood Clot Prevention and Treatment Act (HR 5699), introduced by Rep. Lisa Blunt Rochester (D-Del.)

Read the piece at the link in bio.

#stoptheclot #bloodclots #bloodclotadvocacy

"I was at the Walmart self-checkout. I had been fe

"I was at the Walmart self-checkout. I had been feeling sore and had a hard time catching my breath all day, and I collapsed in the self-checkout.

I came to, and people were standing over me. I say I'm all right, but my pain is getting progressively worse. I ended up driving myself to the emergency room.

I had been to the emergency room a few weeks prior for swollen feet because it did not seem right. They told me it was 'salt intake.' When I came back, they remembered me and knew it was more serious.

They found that I had a saddle pulmonary embolism and a clot still in my leg. I was later diagnosed with factor V Leiden, a blood clotting disorder.

In terms of risk factors, I had been sick the week before and I slept an entire weekend and barely moved. I had symptoms like COVID but never took a test.

Now I take blood thinners daily. I am an avid runner, but nowhere near the mile time I was at before all this happened.

I’ve learned to listen to my body. Also, just because people work in a hospital, doesn’t mean they know how you’re feeling. You know your body best. If you know something isn't right, get a second opinion! Stand up for yourself and do not let others make you think you are crazy."

Read more patient stories at the link in bio.

#stoptheclot #stoptheclotstory #bloodclots #factorvleiden #bloodclottingdisorder #pulmonaryembolism #pe #deepveinthrombosis #dvt #bloodclotawareness #bloodthinners #bloodclotsurvivor #bloodclotpatient #bloodclotprevention #runner

Calling all rheumatoid arthritis patients who take

If you missed our PEP Talk last week on autoimmune

If you missed our PEP Talk last week on autoimmune conditions and blood clots, we have you covered! At the link in bio, check out our PEP Talk media library, where you can watch the recording as well as our other PEP Talks.

#stoptheclot #bloodclots #bloodcloteducation #bloodclotprevention #peptalk

** During Black Maternal Health Week, we’re elev

** During Black Maternal Health Week, we’re elevating stories of Black women who experienced blood clots during pregnancy or postpartum. **

"During my first pregnancy, I had been feeling faint. Soon after, I started getting headaches with flashing black dots in my eyes.

My midwife had told me that my blood pressure was higher than it should be, and that if I got any painful headaches and started seeing black dots, I should go straight to the hospital, so I did.

It turns out I had pre-eclampsia — a potentially dangerous pregnancy complication characterized by high blood pressure — and needed to be induced. I was upset, but glad I had answers.

The day before my induction, I woke up gasping for breath. I thought this may have been from the baby getting bigger, and I thought it was normal to be short of breath during pregnancy.

I knew there was a problem, though, when I went to my mother’s house that evening, as she was making me a lovely roast that I had requested as my last meal before giving birth

But I couldn’t even eat. I gasped for breath with every mouthful, and my chest felt extremely tight. My partner took me to the hospital straight away. I was seen three hours later and told everything looked fine. They offered me a bed, as I was heavily pregnant and due to be induced in the morning.

I was lying in bed crying and gasping telling the staff I could not breathe. I was told that I was fine, I just needed to sleep.

Finally, the next day, I was taken for a scan where blood clots were found in my lungs, or pulmonary emboli.

I blocked this out after I gave birth. I was too scared and anxious to face it at the time. It was a terrifying pregnancy and birth journey, but I am ready to face it now.

If you’re feeling short of breath, lightheaded, faint, dizzy, or experience any chest pain, please go to get checked out. If you know something within yourself is not okay and they have not done the full checks, please don’t take 'you’re fine' as an answer."

Read more stories at the link in bio.

@blackmamasmatter #stoptheclot #bloodclots #bmhw24 #blackmaternalhealthweek #reprojustice #birthjustice #birthequity #bloodclotawareness

Are you passionate about spreading deep vein throm

Are you passionate about spreading deep vein thrombosis and pulmonary embolism awareness in your community? Join our Community Thrombassador program!

Community Thrombassadors play a key role in our organization by raising blood clot awareness across the country. Thrombassadors attend community health events, host awareness activities, conduct outreach, and are always looking for opportunities to bring blood clot awareness into the community consciousness.

Our next training is Thursday, April 25 from 10 a.m. to 2 p.m. ET. If you’re interested, please fill out this pre-registration interest form at the link in bio.

#stoptheclot #bloodclotawareness #thrombassador #communityoutreach #outreach #bloodclotoutreach #bloodclotprevention #volunteering

Load More Follow on Instagram