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Understanding
Factor V Leiden

by Bri Allison

Most people have never heard of Factor V (Five) Leiden, but it’s actually a common mutation amongst Americans of Northern European descent. There are approximately 3 million cases in the United States per year, but most aren’t aware that they carry the gene until they or a family member experience clotting complications.

 

On my mother’s side, a majority of my family has the mutation, including my grandfather, uncles, aunt, cousins, mom, sisters, and even myself. As someone who has seen the mutation in full effect, I feel that it is important to spread awareness of Factor V Leiden.

 

What is Factor V Leiden?

Factor V Leiden is a blood mutation that increases the chance of blood clotting. Factor V is a protein in the blood that everyone has; it helps blood clot properly. However, with the mutation, the protein leads to atypical clot formation.

 

When our blood clots, the Factor V protein is controlled by another protein, Activated Protein C. Activated Protein C doesn’t respond well to the mutated Factor V protein. The resistance prolongs the clotting which increases the risk of a blood clot.

 

What is the cause?

The Factor V Leiden gene is inherited from our parents. You get one copy of the Factor V protein from your father and one from your mother. If you have one parent with a mutated gene, then you have heterozygous Factor V Leiden. So you have 50% of a normal Factor V protein and 50% of the mutated protein. According to the National Blood Clot Alliance, this happens to approximately 5 out of 100 white Americans.

 

Now if you inherited the mutated gene from both parents, then you have homozygous Factor V Leiden. This means you have no normal Factor V protein and 100% mutation. This happens to less than 1% of white Americans.

 

What are the symptoms?

Although having the mutation doesn’t cause any symptoms itself, it is important to know the signs of a potential blood clot which can vary depending on what part of your body is affected.  According to The National Blood Clot Alliance, symptoms of a blood clot in the arms and legs include:

  • Swelling

  • Pain or tenderness

  • Skin warm to the touch

  • Redness or discoloration of the skin

 

Symptoms of a blood clot within the lungs:

  • Chest pain

  • Trouble breathing

  • Coughing or coughing up blood

  • Irregular or racing heartbeat

 

What complications can women have?

Factor V Leiden seems to affect all genders equally; however, it can greatly affect people who give birth or take estrogen. Those who identify as women and have been diagnosed with Factor V Leiden are unable to take certain contraceptives, may have issues with hormone therapy, and have a higher chance of complications with pregnancy.

 

Having the mutated protein increases the risk of miscarriage, stillbirth, and/or blood clots in the placenta and umbilical cord. Now that’s not to say that everyone who becomes pregnant and has Factor V Leiden is going to have issues with their pregnancy, but the chances are certainly higher. Anyone who becomes pregnant is prone to developing a blood clot because of the body’s natural response to form clots to protect against any major bleeding during childbirth. Since your risk of a clot is increased because of the mutated Factor V protein, you may need to take anticoagulation or blood thinning medication during pregnancy. It’s important to talk to your doctor and determine the best option for you and your baby.

 

Moreover, estrogen is a key ingredient in birth control pills, patches, and rings as well as Hormone Replacement Therapy (HRT) and Hormone Therapy (HT). Taking any of the following treatments or contraceptives that contain estrogen and progestin can increase the risk of clotting, so if someone has the Factor V mutation, their risk is even greater. Although they don’t cause blood clots, they do increase the chance of getting one.

 

If you have a history of blood clots or a blood clotting mutation such as Factor V Leiden, then I recommend taking a look at Women and Blood Clots to learn more about the risks and preventative actions you can take.

 

Is there treatment?

Unfortunately, there is no treatment for Factor V Leiden. But if someone is struggling with abnormal blood clotting, they are typically put on anticoagulants or blood thinning medications, such as warfarin, dabigatran, rivaroxaban, and apixaban. These medications can reduce the risk of clots in the future.

 

How do you get diagnosed?

If you or someone you know has had issues with blood clots in the past, or if you identify as a woman and have had issues with birth control, hormone therapy, or pregnancy, then you may have the Factor V Leiden mutation.

 

To get diagnosed you just need to get a blood test. This test examines your DNA to see if your Factor V protein is normal or mutated. It can also identify if you have the heterozygous or homozygous gene. 

 

Although there may be risks and challenges while living with Factor V Leiden, many people with this blood mutation may never experience serious complications. However, make sure to check out the American Factor V Leiden Association website to learn more and know the signs!

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Brianna Allison graduated from Duquesne University with a Bachelor’s degree in Multiplatform Journalism and one in Public Relations. Brianna has a strong passion for storytelling and loves being a part of a media-enriched environment. She has worked in broadcast journalism, social media, and print journalism in the past. In addition to role as Managing Editor of Today's Patient, Bri is a member of the broadcast team for The Power of the Patient Project, 

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Talking to Your Doctor About PMDD: 
Three Things to Know 

by Rachel A. R. Porter

 

If you are experiencing menstrual pain and mood changes during the luteal phase of your menstrual cycle (the 14 days before your period) that are severe enough to disrupt your quality of life, then you may have PMDD.

 

Premenstrual dysphoric disorder (PMDD) is a gynecological disease that affects approximately 3% to 8% of people who menstruate, although the exact number is unknown. PMDD can be understood as a severe form of premenstrual syndrome (PMS) that impairs a person’s ability to function in their everyday lives. The perception that period pain is normal and must be tolerated is still widely accepted by mainstream society and continues to be perpetuated by the medical community when patients complaining of menstrual pain and mood swings are told to take over-the- counter pain relievers and to simply use a heating pad to ease uterine cramps. This attitude that menstrual pain is common and should be expected is especially detrimental to patients with PMDD. Many people who experience PMDD dismiss their own pain for years because they are conditioned by society and medical professionals to believe that period pain is normal. For the same reason, PMDD symptoms are often disregarded, downplayed or misdiagnosed when patients do report them.

 

Fortunately, PMDD awareness among medical practitioners is growing. In January 2022, PMDD was added to the International Classification of Diseases 11th Revision (ICD-11). This addition legitimizes PMDD as a condition of global health significance. While this classification has already spurred additional research and funding, the disease is still not well understood and patients remain their own best advocate.

 

What to know when seeking treatment for PMDD:

1. PMDD is Easily Misdiagnosed

70-90% of people who menstruate experience some type of premenstrual discomfort and about one third of menstruators experience symptoms that constitute premenstrual syndrome (also known as premenstrual tension syndrome). This means that a small subset of people who menstruate experience symptoms that are consistent with a PMDD diagnosis.

 

Many PMDD symptoms resemble other conditions such as bipolar disorder or major depressive disorder which makes it a difficult disease to diagnose. Birth control and SSRIs can alleviate PMDD symptoms in some menstruators, but in doing so can mask the underlying cause of symptoms. PMDD is also complicated to diagnose because primary dysmenorrhea (menstrual cramps that start soon after your first period) often decrease in severity as a patient ages. This leads doctors to “wait and see” which means that early signs of PMDD are often dismissed and misattributed if they are treated at all. This results in some PMDD patients not receiving a diagnosis until nearly 10 or more years after their menarche (first period).

 

2. You’ll Most Likely Be Asked to Document Your Symptoms

It is difficult to obtain a PMDD diagnosis and not all people who experience debilitating menstrual pain before their period have PMDD; endometriosis, ovarian cysts, uterine fibroids and pelvic inflammatory disease can all be responsible for pelvic pain in people with female reproductive organs. According to the new ICD-11 definition, patients must experience “a pattern of mood symptoms (depressed mood, irritability), somatic symptoms (lethargy, joint pain, overeating), or cognitive symptoms (concentration difficulties, forgetfulness)” during “a majority of menstrual cycles within the past year” that begin a few days before their period and end within a week after.

 

This means that in order to be diagnosed your doctor will likely ask you to document your symptoms for at least two cycles. You can show up prepared to your appointment with notes that track your mood, pain levels and/or cognitive symptoms. Coming to your doctor’s office with self-documented symptom tracking will help them take you seriously from the start and may help you get treatment and the right diagnosis faster.

 

3. PMDD is Controversial, But Your Pain is Not

There is a history of debate within the medical field about whether or not PMDD is real and whether or not putting a name to menstrual related symptoms amplifies the potential for discrimination against people who menstruate. A lot of this controversy stems from a 2013 classification in the American Psychiatric Association Statistical Manual of Mental Disorders that lists PMDD as a mental disorder. Feminist scholars worry the definition will be used to dismiss the concerns and voices of women and menstruating people. Additional concerns lie with the potential of the pharmaceutical companies to take advantage of menstruators by marketing new drugs and encouraging the overdiagnosis of PMDD.

 

It is important to be aware of these debates, because they may be shaping the way your doctor reacts to your symptoms. By knowing the biases that exist in the medical community, you can show up prepared to ask your doctor what their plan is to address your pain and to find a new doctor if their plan does not ensure the relief you deserve.

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Rachel A. R. Porter (she/her) is the Co-Founder of Kneading Change LLC, a liberation-focused consulting and facilitation practice. She is the former Editor-In-Chief of Rematriation -an Indigenous women led media project – and has consulted for numerous climate justice nonprofits. Rachel earned her B.A. from Middlebury College and M.A. in Law and Diplomacy from Tufts University. Rachel is a caregiver and patient advocate who is passionate about increasing patient access to resources related to mental health care, chronic pain relief and reproductive justice. She is currently pursuing a M.F.A. in Creative Nonfiction at the Institute of American Indian Arts. Rachel is a Senior Contributor at Today’s Patient.

October 2022  page 2