My Health Journey With Homozygous Factor V Leiden

Nonetheless my discomfort was solely worsening, and it was notably unhealthy inside the mornings.

When even driving turned uncomfortable, I knew it was time to go to the orthopedic urgent care clinic for a same-day appointment.

“How’s your insurance coverage protection?” the physician’s assistant requested me after a brief examination. “Good… Why?” I countered. Because of my hurt was lingering and I couldn’t pinpoint a set off, he suspected a blood clot and ordered an ultrasound.

I bristled on the thought. I didn’t have any of the frequent symptoms of a blood clot, like redness, swelling, heaviness, or heat. Plus, in my ideas, blood clots occurred to people who’ve been older (I was solely 38 on the time), a lot much less energetic, and residing in larger our our bodies than mine. I couldn’t in all probability have a blood clot.

Three hours later, after a radical ultrasound all the best way by which as a lot as my bikini line, I was acknowledged with a deep vein thrombosis, or DVT—a blood clot that develops in one in every of many physique’s deeper, larger veins, largely inside the legs, per the Mayo Clinic.

By that evening, I had a prescription for blood thinners—the similar ones my 80-something-year-old grandmother takes—and a follow-up appointment scheduled with a hematologist (aka, a doctor who focuses on blood issues). Nonetheless principally, I had quite a few questions and just a few options.

Collaborating in “medical whack-a-mole”

Then the pandemic hit, and I went into “hold residence, hold protected” mode with the rest of the world. All my non-urgent medical appointments have been positioned on preserve, so when worries about my state of affairs saved me awake at evening time, I would badger a doctor good pal over on the West Coast. I even turned to “Dr. Google” instead of my trusted primary-care doctor as soon as I had burning questions.

Could this DVT journey to my lungs, like I’d seen on an episode of Grey’s Anatomy? What’s the excellence between a vascular specialist and a hematologist? Was it protected to run and do yoga whereas taking anticoagulants?

My questions felt like medical whack-a-mole. As shortly as one was answered, additional appeared. My blood clot lastly dissolved over the next three months, which relieved my bodily discomfort, nonetheless my concern surrounding my nicely being solely grew. Throughout the fall of 2020, I lastly acquired in to see a hematologist, who dismissed most of my questions as pointless nervousness (which is an all-too-common experience BTW, often known as medical gaslighting).

By the use of all this uncertainty, I found one reassuring actuality: A clot like mine that varieties beneath the knee is simply no more more likely to break off and journey to my lungs, the place it would set off a extreme and possibly lethal block often known as pulmonary embolism (PE), in accordance with a December 2017 analysis in Cardiovascular Diagnosis & Therapy.

Nonetheless I moreover found that DVT and PE aren’t uncommon, and will reoccur. Further evaluation led me to statistics from the CDC that, similtaneously a nicely being creator, I had solely peripheral consciousness of:

• An estimated 900,000 People have a DVT or PE yearly
• Between 60,000 and 100,000 People die yearly of DVT or PE
• 1 in 3 people with a DVT or PE might have one different inside a decade
• The first sign of a PE in 25 p.c of people is sudden demise

I was shocked. Why was no person talking about these numbers, to not point out vascular nicely being usually?! Why don’t now we have now a clever acronym for blood clot warning indicators—like FAST to spot a stroke?

This societal ignorance was mirrored in my non-public circles. My mom and grandmother had gotten clots after surgical process, nonetheless I didn’t know anyone my age aware of their menace, or who shared a similar experience. I felt alone, and the isolation of the pandemic didn’t make discovering help any easier.

“There’s an consciousness wished. Now we have to find out about DVT and PE similar to we find out about coronary coronary heart assaults.”—Michael Streiff, MD, hematologist

Discovering group

Like many people, I went on-line. I joined a Fb group that’s part of the National Blood Clot Alliance—a nonprofit centered on consciousness and group for these affected by or in peril for blood clots. Learning about completely different people’s experiences, and shopping the group’s free sources and curated scientific literature, helped me actually really feel a lot much less alone and better educated.

“People find out about stroke, coronary coronary heart assaults, and most cancers, nonetheless they have no idea one thing about blood clots,” says Michael Streiff, MD, a board-certified hematologist, professor of medication and pathology, and medical director at The Johns Hopkins Hospital Specific Coagulation Laboratory. Nonetheless DVT and PE are literally frequent—the third commonest thrombotic sickness, he gives. The first two are coronary coronary heart assault and stroke.

“There’s an consciousness wished,” says Dr. Streiff. “Now we have to find out about DVT and PE similar to we find out about coronary coronary heart assaults.”

Dr. Streiff agreed with my earlier self-assessment: I didn’t match the profile of most blood clot victims. “Whenever you check out epidemiological analysis all through all age groups, the hazard of blood clots could possibly be very low as soon as we’re youthful,” he says. “As we age, our risk goes up.” Totally different components that enhance your menace embody the following, per the CDC:

• Surgical process
• Hospitalization
• Hormonal contraception
• Most cancers
• Family historic previous (aka, genetic thrombophilia)
• Infections (along with COVID-19)
• Being pregnant
• Weight issues
• Long-distance travel (by automotive or plane)

After I used to be acknowledged, I was an brisk 38-year-old woman in a straight-size body who had no prior surgical procedures or hospitalizations. And I hadn’t used hormonal contraception in over a decade.

Nonetheless I had currently endured a hellacious journey day in Mexico, starting with a three-hour taxi journey from Tulum to Cancun (with no stops and no water), extended weather-related flight delays, two bumpy flights the place the “fasten seatbelt” sign under no circumstances turned off, and, after the flight crew timed out, a night spent sleeping curled up in a chair on the Atlanta airport.

Not coincidentally, my calf ache started a few days later.

Sure, the widespread particular person’s vascular system can cope with all that journey (and sitting nonetheless for hours) with out problem, sustaining “a mild state of standard bleeding and clotting, a teeter-totter that’s balanced,” explains Dr. Streiff. Not mine, it appears. Nonetheless why?

“I’m doing all I can to assemble a sturdy physique right now, to help offset the potential future outcomes of a genetic problem I can’t administration.”

A “unicorn” prognosis

Months later, my primary-care doctor decided to order genetic blood testing, seeing that my DVT was a thriller given my nicely being and age. I found I’ve Subject V Leiden (FVL)—a genetic mutation that predisposes me to blood clots.

FVL is the most common inherited kind of blood clotting mutation. About 3 to eight p.c of people with European ancestry carry on the very least one copy of this gene mutation—often known as heterozygous FVL, per the National Library of Medicine (NLM). Nonetheless the menace for clots with this kind isn’t somewhat greater than the general inhabitants: “a few four- to five-fold enhance,” says Dr. Streiff.

Homozygous FVL “unicorns” like myself carry two copies of the mutation, which is unusual: solely about 1 in 5,000 people have this kind, per the NLM. And it makes the hazard of clots significantly bigger—anyplace between a nine-fold to 80-fold enhance— estimates which could be “rather a lot a lot much less actual,” gives Dr. Streiff. (We’re so unusual even an skilled in venous thromboembolisms can’t give an precise decide!)

Beneath healthful conditions, our our our bodies variety blood clots as a way of security, Dr. Streiff says. As an example, for individuals who get a decrease, a sequence of blood proteins and platelets work to “glue” it once more collectively. A type of proteins is called Subject V. When you might have a FVL gene mutation, your physique’s anti-clotting proteins are disrupted, making you additional inclined to clots.

Dr. Streiff says the FVL mutation seemingly formed over 25,000 years up to now as a survival mechanism sooner than trendy remedy. One occasion? Once more then, “being pregnant and provide have been cases of good menace to women,” he gives. “Some women would bleed to demise, nonetheless others with FVL have been a lot much less extra more likely to have that happen.”

Sooner than my genetic testing, I had no thought my likelihood for in all probability lethal blood clots was rather a lot bigger than the widespread particular person—and that it’ll solely go up with age. In the mean time and for the rest of my life, I’ve to pay attention to my vascular nicely being, a part of the cardiovascular system many people overlook.

This means every strained muscle requires a model new diploma of scrutiny and care, and any future hurt that stops me from strolling will seemingly require blood thinners. I nonetheless see a hematologist who focuses on genetic thrombophilia as wished, and I take injectable blood thinners sooner than any prolonged flights.

How I’m managing my FVL

Virtually 4 years later, I’ve no lingering bodily factors, nonetheless that blood clot modified the best way by which I technique my well being and wellness. I’m doing all I can to assemble a sturdy physique right now, to help offset the potential future outcomes of a genetic problem I can’t administration.

Some lifestyle habits I’ve utilized to cease blood clots embody the following (which might be backed up by The National Blood Clot Alliance):

• I placed on compression socks anytime I journey. On flights and trains, I moreover rise up every hour, drink plenty of water, and choose an aisle seat to maneuver additional freely. I alert flight attendants to my state of affairs in order that they know I’m not attempting to be annoying by standing so usually. On freeway journeys, I stop to walk spherical and stretch every 90 minutes.
• After I can’t rise up, I switch my ft and ankles usually, to cease blood from pooling in my lower legs.
• I view my daily workout routines as an funding in my future, along with a raise for my psychological and cardiovascular nicely being.
• I’ve prioritized strength training in my well being routine, to help preserve my cardiovascular system healthful, forestall falls, and protect me from accidents that can require surgical process as I age.
• I get up every hour when I work, and I under no circumstances sit with my legs crossed for lengths of time (to avoid limiting blood flow into).
• I’m diligent about warming up, cooling down, and recovery after working out, and I immediately deal with any ache or discomfort in my joints and muscle tissues. I focus additional on stabilizing my muscle tissues and incorporate additional unilateral and balance training. Given my menace components, I’ve to do each half in my vitality to avoid being immobilized or having surgical process. (I’m moreover clumsy and hypermobile, so this one is a gigantic job!)

What I want all people to find out about blood nicely being

Many people don’t know they’re FVL carriers until after they’ve had a painful (and inside the U.S., in all probability expensive) clot. No matter this menace, Dr. Streiff doesn’t advocate that everyone get examined for genetic thrombophilia, or concern about whether or not or not they’re a service. In its place, it’s additional important to know the symptoms, indicators, and menace components for DVT and PE, and to cope with them accordingly.

A pulled muscle will usually heal in a number of days, nonetheless ache from DVT solely will worsen, so try to not write off lingering ache (or completely different DVT indicators) as a part of ageing, says Dr. Streiff. That could be very true for individuals who actually really feel DVT indicators along with shortness of breath, chest ache, tightness or pain in the chest or once more when taking a deep breath, coughing blood, an unexplained cough, or feeling faint—which can indicate PE.

“If in case you have got these indicators, it’s a medical emergency,” says Dr. Streiff. “Title your doctor, and go to the ER or urgent care immediately.” Thankfully when you catch a clot early, there are numerous environment friendly therapies on the market like oral, injected, and intravenous blood thinners, surgical process, and stents to help preserve veins open.

Blood clots (and vascular factors usually) are typically seen as points solely older adults face. Nonetheless they don’t discriminate.

“[Blood clots] can happen to healthful people, along with athletes,” says Alok A. Khorana, MD, FACP, FASCO, medical and scientific advisory board chair of the Nationwide Blood Clot Alliance. “Please think about indicators and indicators and search medical consideration, considerably in high-risk settings like after a knee, hip, or ankle hurt or operation, inside the hospital, or in case you have got most cancers.”

Vascular nicely being is important for everyone, no matter your blood clot menace. Whenever you’ve had a clot sooner than with out completely different menace components, ask your doctor whether it is worth getting examined for genetic mutations like FVL.