My Health Journey With Homozygous Factor V Leiden

However my discomfort was solely worsening, and it was particularly unhealthy within the mornings.

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

“How’s your insurance coverage?” the doctor’s assistant requested me after a short examination. “Good… Why?” I countered. As a result of my harm was lingering and I couldn’t pinpoint a trigger, 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 warmth. Plus, in my thoughts, blood clots occurred to individuals who have been older (I used to be solely 38 on the time), much less energetic, and residing in greater our bodies than mine. I couldn’t probably have a blood clot.

Three hours later, after a radical ultrasound all the way in which as much as my bikini line, I used to be recognized with a deep vein thrombosis, or DVT—a blood clot that develops in one of many physique’s deeper, bigger veins, mostly within the legs, per the Mayo Clinic.

By that night, I had a prescription for blood thinners—the identical ones my 80-something-year-old grandmother takes—and a follow-up appointment scheduled with a hematologist (aka, a physician who focuses on blood problems). However principally, I had numerous questions and only a few solutions.

Taking part in “medical whack-a-mole”

Then the pandemic hit, and I went into “keep residence, keep protected” mode with the remainder of the world. All my non-urgent medical appointments have been placed on maintain, so when worries about my situation saved me awake at night time, I might badger a physician good friend over on the West Coast. I even turned to “Dr. Google” as a substitute of my trusted primary-care physician once I had burning questions.

May this DVT journey to my lungs, like I’d seen on an episode of Gray’s Anatomy? What’s the distinction 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 quickly as one was answered, extra appeared. My blood clot lastly dissolved over the following three months, which relieved my bodily discomfort, however my concern surrounding my well being solely grew. Within the fall of 2020, I lastly received in to see a hematologist, who dismissed most of my questions as pointless nervousness (which is an all-too-common expertise BTW, known as medical gaslighting).

By way of all this uncertainty, I discovered one reassuring reality: A clot like mine that types under the knee is just not more likely to break off and journey to my lungs, the place it might trigger a severe and probably deadly block known as pulmonary embolism (PE), in accordance with a December 2017 evaluation in Cardiovascular Diagnosis & Therapy.

However I additionally discovered that DVT and PE aren’t unusual, and may reoccur. Additional analysis led me to statistics from the CDC that, at the same time as a well being author, I had solely peripheral consciousness of:

• An estimated 900,000 Individuals have a DVT or PE yearly
• Between 60,000 and 100,000 Individuals die every year of DVT or PE
• 1 in 3 folks with a DVT or PE may have one other inside a decade
• The primary signal of a PE in 25 p.c of individuals is sudden demise

I used to be shocked. Why was nobody speaking about these numbers, not to mention vascular well being normally?! Why don’t now we have a intelligent acronym for blood clot warning indicators—like FAST to spot a stroke?

This societal ignorance was mirrored in my private circles. My mother and grandmother had gotten clots after surgical procedure, however I did not know anybody my age conscious of their threat, or who shared an analogous expertise. I felt alone, and the isolation of the pandemic did not make discovering assist any simpler.

“There’s an consciousness wanted. We have to learn about DVT and PE identical to we learn about coronary heart assaults.”—Michael Streiff, MD, hematologist

Discovering group

Like many individuals, I went on-line. I joined a Fb group that’s a part of the National Blood Clot Alliance—a nonprofit centered on consciousness and group for these affected by or in danger for blood clots. Studying about different folks’s experiences, and browsing the group’s free sources and curated scientific literature, helped me really feel much less alone and higher knowledgeable.

“Individuals learn about stroke, coronary heart assaults, and most cancers, however they do not know something about blood clots,” says Michael Streiff, MD, a board-certified hematologist, professor of drugs and pathology, and medical director at The Johns Hopkins Hospital Particular Coagulation Laboratory. However DVT and PE are actually frequent—the third most typical thrombotic illness, he provides. The primary two are coronary heart assault and stroke.

“There’s an consciousness wanted,” says Dr. Streiff. “We have to learn about DVT and PE identical to we learn about coronary heart assaults.”

Dr. Streiff agreed with my earlier self-assessment: I didn’t match the profile of most blood clot sufferers. “When you take a look at epidemiological research throughout all age teams, the danger of blood clots could be very low once we’re younger,” he says. “As we age, our risk goes up.” Different elements that improve your threat embody the next, per the CDC:

• Surgical procedure
• Hospitalization
• Hormonal contraception
• Most cancers
• Household historical past (aka, genetic thrombophilia)
• Infections (together with COVID-19)
• Being pregnant
• Weight problems
• Long-distance travel (by automotive or aircraft)

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

However I had lately endured a hellacious journey day in Mexico, beginning with a three-hour taxi trip from Tulum to Cancun (with no stops and no water), prolonged weather-related flight delays, two bumpy flights the place the “fasten seatbelt” signal by no means turned off, and, after the flight crew timed out, an evening spent sleeping curled up in a chair on the Atlanta airport.

Not coincidentally, my calf ache began a couple of days later.

Certain, the common individual’s vascular system can deal with all that journey (and sitting nonetheless for hours) with out challenge, sustaining “a gentle state of regular bleeding and clotting, a teeter-totter that’s balanced,” explains Dr. Streiff. Not mine, it seems. However why?

“I’m doing all I can to construct a robust physique at this time, to assist offset the potential future results of a genetic challenge I can’t management.”

A “unicorn” prognosis

Months later, my primary-care physician determined to order genetic blood testing, seeing that my DVT was a thriller given my well being and age. I discovered I’ve Issue V Leiden (FVL)—a genetic mutation that predisposes me to blood clots.

FVL is the most typical inherited type of blood clotting mutation. About 3 to eight p.c of individuals with European ancestry carry at the very least one copy of this gene mutation—known as heterozygous FVL, per the National Library of Medicine (NLM). However the threat for clots with this sort isn’t rather more than the overall inhabitants: “a couple of four- to five-fold improve,” says Dr. Streiff.

Homozygous FVL “unicorns” like myself carry two copies of the mutation, which is uncommon: solely about 1 in 5,000 folks have this sort, per the NLM. And it makes the danger of clots considerably larger—anyplace between a nine-fold to 80-fold improve— estimates which can be “a lot much less exact,” provides Dr. Streiff. (We’re so uncommon even an professional in venous thromboembolisms can’t give an actual determine!)

Underneath wholesome situations, our our bodies kind blood clots as a method of safety, Dr. Streiff says. For instance, for those who get a minimize, a sequence of blood proteins and platelets work to “glue” it again collectively. A kind of proteins is known as Issue V. When you may have a FVL gene mutation, your physique’s anti-clotting proteins are disrupted, making you extra inclined to clots.

Dr. Streiff says the FVL mutation seemingly shaped over 25,000 years in the past as a survival mechanism earlier than fashionable medication. One instance? Again then, “being pregnant and supply have been instances of nice threat to ladies,” he provides. “Some ladies would bleed to demise, however others with FVL have been much less more likely to have that occur.”

Earlier than my genetic testing, I had no thought my probability for probably deadly blood clots was a lot larger than the common individual—and that it’ll solely go up with age. At the moment and for the remainder of my life, I’ve to be aware of my vascular well being, part of the cardiovascular system many individuals overlook.

This implies each strained muscle requires a brand new degree of scrutiny and care, and any future harm that stops me from strolling will seemingly require blood thinners. I nonetheless see a hematologist who focuses on genetic thrombophilia as wanted, and I take injectable blood thinners earlier than any lengthy flights.

How I am managing my FVL

Practically 4 years later, I’ve no lingering bodily points, however that blood clot modified the way in which I strategy my health and wellness. I’m doing all I can to construct a robust physique at this time, to assist offset the potential future results of a genetic challenge I can’t management.

Some way of life habits I’ve applied to stop blood clots embody the next (that are backed up by The National Blood Clot Alliance):

• I put on compression socks anytime I journey. On flights and trains, I additionally stand up each hour, drink plenty of water, and select an aisle seat to maneuver extra freely. I alert flight attendants to my situation so that they know I’m not making an attempt to be annoying by standing so typically. On highway journeys, I cease to stroll round and stretch each 90 minutes.
• After I can’t stand up, I transfer my ft and ankles typically, to stop blood from pooling in my decrease legs.
• I view my day by day exercises as an funding in my future, in addition to a lift for my psychological and cardiovascular well being.
• I’ve prioritized strength training in my health routine, to assist maintain my cardiovascular system wholesome, forestall falls, and shield me from accidents that will require surgical procedure as I age.
• I get up every hour when I work, and I by no means sit with my legs crossed for lengths of time (to keep away from limiting blood circulate).
• I’m diligent about warming up, cooling down, and recovery after working out, and I instantly cope with any ache or discomfort in my joints and muscle tissues. I focus extra on stabilizing my muscle tissues and incorporate further unilateral and balance training. Given my threat elements, I have to do every part in my energy to keep away from being immobilized or having surgical procedure. (I’m additionally clumsy and hypermobile, so this one is an enormous job!)

What I need everybody to learn about blood well being

Many individuals don’t know they’re FVL carriers till after they’ve had a painful (and within the U.S., probably costly) clot. Regardless of this threat, Dr. Streiff doesn’t advocate that everybody get examined for genetic thrombophilia, or fear about whether or not they’re a service. As an alternative, it’s extra essential to know the indicators, signs, and threat elements for DVT and PE, and to deal with them accordingly.

A pulled muscle will normally heal in a few days, however ache from DVT solely will get worse, so attempt to not write off lingering ache (or different DVT signs) as part of ageing, says Dr. Streiff. That is very true for those who really feel DVT signs together with shortness of breath, chest ache, tightness or pain in the chest or again when taking a deep breath, coughing blood, an unexplained cough, or feeling faint—which may imply PE.

“If in case you have these signs, it’s a medical emergency,” says Dr. Streiff. “Name your physician, and go to the ER or pressing care instantly.” Fortunately once you catch a clot early, there are many efficient therapies out there like oral, injected, and intravenous blood thinners, surgical procedure, and stents to assist maintain veins open.

Blood clots (and vascular points normally) are sometimes seen as issues solely older adults face. However they don’t discriminate.

“[Blood clots] can occur to wholesome folks, together with athletes,” says Alok A. Khorana, MD, FACP, FASCO, medical and scientific advisory board chair of the Nationwide Blood Clot Alliance. “Please concentrate on indicators and signs and search medical consideration, significantly in high-risk settings like after a knee, hip, or ankle harm or operation, within the hospital, or in case you have most cancers.”

Vascular well being is essential for everybody, regardless of your blood clot threat. When you’ve had a clot earlier than with out different threat elements, ask your physician if it is value getting examined for genetic mutations like FVL.