My Health Journey With Homozygous Factor V Leiden

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

When even driving grew to become 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 quick 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 lively, and residing in greater our bodies than mine. I couldn’t probably have a blood clot.

Three hours later, after an intensive ultrasound all the way in which as much as my bikini line, I used to be identified 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 health care provider who focuses on blood problems). However largely, I had plenty of questions and only a few solutions.

Taking part in “medical whack-a-mole”

Then the pandemic hit, and I went into “keep dwelling, keep secure” 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 evening, I might badger a health care provider good friend over on the West Coast. I even turned to “Dr. Google” as an alternative of my trusted primary-care physician after 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 secure 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 obtained in to see a hematologist, who dismissed most of my questions as pointless nervousness (which is an all-too-common expertise BTW, referred to as medical gaslighting).

By way of all this uncertainty, I realized one reassuring reality: A clot like mine that kinds beneath the knee just isn’t prone to break off and journey to my lungs, the place it might probably trigger a severe and probably deadly block referred to as pulmonary embolism (PE), in keeping with a December 2017 overview in Cardiovascular Diagnosis & Therapy.

However I additionally realized that DVT and PE usually are not unusual, and might 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 annually of DVT or PE
• 1 in 3 folks with a DVT or PE could have one other inside a decade
• The primary signal of a PE in 25 p.c of individuals is sudden loss of life

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

This societal lack of expertise 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 danger, or who shared the same expertise. I felt alone, and the isolation of the pandemic did not make discovering help any simpler.

“There’s an consciousness wanted. We have to find out about DVT and PE similar to we find out 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 targeted on consciousness and group for these affected by or in danger for blood clots. Studying about different folks’s experiences, and skimming the group’s free assets and curated scientific literature, helped me really feel much less alone and higher knowledgeable.

“Folks find out 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 find out about DVT and PE similar to we find out about coronary heart assaults.”

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

After I was identified, I used to be an lively 38-year-old girl 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 just lately endured a hellacious journey day in Mexico, beginning with a three-hour taxi journey 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 number of days later.

Positive, the typical particular person’s vascular system can deal with all that journey (and sitting nonetheless for hours) with out challenge, sustaining “a gradual 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 powerful physique at present, to assist offset the potential future results of a genetic challenge I can’t management.”

A “unicorn” analysis

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 realized I’ve Issue V Leiden (FVL)—a genetic mutation that predisposes me to blood clots.

FVL is the commonest inherited type of blood clotting mutation. About 3 to eight p.c of individuals with European ancestry carry no less than one copy of this gene mutation—referred to as heterozygous FVL, per the National Library of Medicine (NLM). However the danger for clots with this kind isn’t way more than the final inhabitants: “a few 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 kind, per the NLM. And it makes the danger of clots considerably greater—wherever 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 skilled in venous thromboembolisms can’t give a precise determine!)

Underneath wholesome circumstances, our our bodies kind blood clots as a method of safety, Dr. Streiff says. For instance, when you get a reduce, a sequence of blood proteins and platelets work to “glue” it again collectively. A type of proteins known as Issue V. When you’ve gotten a FVL gene mutation, your physique’s anti-clotting proteins are disrupted, making you extra vulnerable to clots.

Dr. Streiff says the FVL mutation possible fashioned over 25,000 years in the past as a survival mechanism earlier than trendy drugs. One instance? Again then, “being pregnant and supply have been instances of nice danger to ladies,” he provides. “Some ladies would bleed to loss of life, however others with FVL have been much less prone to have that occur.”

Earlier than my genetic testing, I had no thought my probability for probably deadly blood clots was a lot greater than the typical particular person—and that it’ll solely go up with age. In the present day and for the remainder of my life, I’ve to be conscious of my vascular well being, part of the cardiovascular system many individuals overlook.

This implies each strained muscle requires a brand new stage of scrutiny and care, and any future harm that forestalls me from strolling will possible 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

Almost 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 powerful physique at present, to assist offset the potential future results of a genetic challenge I can’t management.

Some life-style habits I’ve applied to forestall 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 rise up each hour, drink plenty of water, and select an aisle seat to maneuver extra freely. I alert flight attendants to my situation in order that they know I’m not making an attempt to be annoying by standing so typically. On street journeys, I cease to stroll round and stretch each 90 minutes.
• After I can’t rise up, I transfer my toes and ankles typically, to forestall blood from pooling in my decrease legs.
• I view my each 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 hold my cardiovascular system wholesome, forestall falls, and defend 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 proscribing blood movement).
• I’m diligent about warming up, cooling down, and recovery after working out, and I instantly take care of any ache or discomfort in my joints and muscle groups. I focus extra on stabilizing my muscle groups and incorporate further unilateral and balance training. Given my danger elements, I have to do all the pieces in my energy to keep away from being immobilized or having surgical procedure. (I’m additionally clumsy and hypermobile, so this one is a giant job!)

What I would like everybody to find out 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 danger, Dr. Streiff doesn’t suggest that everybody get examined for genetic thrombophilia, or fear about whether or not they’re a provider. As an alternative, it’s extra essential to know the indicators, signs, and danger elements for DVT and PE, and to deal with them accordingly.

A pulled muscle will often heal in a few days, however ache from DVT solely will get worse, so strive to not write off lingering ache (or different DVT signs) as part of getting old, says Dr. Streiff. That is very true when you 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 might imply PE.

“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 hold veins open.

Blood clots (and vascular points generally) 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 pay attention to indicators and signs and search medical consideration, notably in high-risk settings like after a knee, hip, or ankle harm or operation, within the hospital, or when you have most cancers.”

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