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Thu, Oct 26 12:00pm · Clotting disorders: Factor V Leiden and blood clots

Dr. Marshall Editorial_2

As many as 1 in 20 Caucasians carry a gene mutation called factor V Leiden. This mutation can increase your chance of developing abnormal blood clots (thrombophilia) ─ usually in your veins.

Factor V Leiden is an inherited, heterozygous disorder, where one gene comes from dad and one comes from mom.

“Factor V Leiden may increase the risk of a blood clot from anywhere from two to five times, but it is important to compare that to the general population’s risk,” says Ariela Marshall, M.D., a Mayo Clinic hematologist. “If you take someone in their 30s or 40s, the risk of a blood clot is about 1 in 10,000, so you multiply that by four or five times, it is still only 4 or 5 in 10,000.”

However, Dr. Marshall explains the risk number changes with age. Adults in their 50s and 60s have a baseline blood clot risk of 1 in 1,000, so someone with factor V Leiden would be 4 or 5 in 1,000. For adults in their 70s and 80s, the normal risk for a blood clot may be as high as 1 in 100.

Age is just one risk factor for blood clots. Others include:

  • Smoking
  • Being overweight
  • Sedentary lifestyle
  • Estrogen-containing birth control pills
  • Pregnancy
  • Flying
  • Previous blood clot

According to Dr. Marshall, each risk factor a person has compounds the chance of getting a blood clot.

“Say, for instance, you have a smoker who is over 35 but skinny, you have a slightly increased risk of blood clots,” Dr. Marshall says. “But if you take someone who is 70, overweight and smokes, they are at a much higher increased risk of blood clots. If a person also has factor V Leiden, you then multiply all of these risk factors by another four or five times.”

Legs and lungs are the two most common areas for blood clots.

To recognize when you have a blood clot, note these warning signs:

  • New pain and swelling in the legs ─ ongoing pain that is typically in one leg
  • Redness
  • Sudden onset of shortness of breath not related to exercise

“If you have had a previous clot, you are more likely to get another blood clot in the same spot because of the remaining blood vessels abnormality,” Dr. Marshall says.

Treating a clotting disorder may not be as worrisome as you’d expect.

“We do not actively treat clotting disorders, unless they have had a blood clot,” Dr. Marshall says. “What we do want to do, is council our patients about how to mitigate the other risk factors like smoking, weight management and living healthy lifestyles.”

Patients with clotting disorders are actively managed during major surgical procedures with low doses of blood thinners.

“It is important to know our patients have a clotting disorder so they can be properly managed during procedures or trauma,” Dr. Marshall says. “But the best thing a person can do is manage the controllable risk factors as best they can.”

On Novermber 2nd, 2017, we discuss how clotting disorders affect women differently than men.


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Sun, Oct 15 8:00am · Leukemia Diagnosis Changes Life, Career Path, for Mayo Physician

Dr. Rosenthal

Allison Rosenthal, D.O., went to medical school for the sole purpose of becoming an orthopedic surgeon. All of that changed, however, when she was diagnosed with acute promyelocytic leukemia at the age of 24.

Original story from In the Loop

Allison Rosenthal, D.O., has wanted to be a doctor for as long as she can remember. “Ever since I was a kid,” she tells us. “I don’t know where I got it from, but it’s just something I wanted to do.”

More specifically, she wanted to become an orthopedic surgeon. “That’s why I went to medical school in the first place,” Dr. Rosenthal tells us. But then came spring break of her second year of medical school. “I was planning to meet some friends from college after I’d finished finals, but then I got pretty sick,” she says. “I just thought I’d overdone it by studying and not sleeping all week. I thought I had the flu.”

A trip to a local emergency department would tell another story. “The ER doctor who assessed me got some fluids going, drew some labs, and then didn’t even come back to see me,” Dr. Rosenthal tells us. “The next person I met was a hematologist because my labs were so out of whack.”

Leukemia Cells

Dr. Rosenthal — just 24 at the time — was diagnosed with acute promyelocytic leukemia, a rare form of the disease. Over the next two-plus years, she received treatments that would save her life. She also received unsolicited and unexpected advice that would change her career path. “My oncologist kept saying, ‘This is what you’re going to do. You’re going to become an oncologist,'” she tells us. “And I was like, ‘You’re out of your mind. I’m just trying to survive this, never mind having to be around it every day!'”

But life, as they say, has a funny way of working out. Today, Dr. Rosenthal is a physician in Hematology/Oncology at Mayo Clinic’s Arizona campus. And she was recently named the 2017 “Woman of the Year” by the Arizona chapter of the Leukemia & Lymphoma Society. The honor, in part, recognized her work to help raise more than $140,000 for the organization’s continued blood cancer research work, as well as financial aid programs for blood cancer patients and their families.

It’s also an honor that came with Dr. Rosenthal’s likeness being featured on a billboard above an Arizona freeway — something she doesn’t seem particularly thrilled about. “It’s actually quite horrifying to me, but it’s temporary,” she tells us with a laugh.

What’s not temporary, however, are the effects that Dr. Rosenthal’s work, and career change, are having on her patients at Mayo Clinic. “I don’t know why I ended up with leukemia, and I don’t know why I was able to survive it when other people don’t,” she tells us. “But I do know that it affords me a unique perspective in taking care of my patients, because the best way to develop empathy for someone is to have gone through what they’re going through.”

Give us your unique perspective by sharing your comments below before using the handy media tools atop this page to share this story with others.


Want to meet others with leukemia to share experiences and get support from someone who understands? Check out these discussions on Connect:

Wed, Oct 4 12:00pm · Bleeding disorders in women - complications

Dr. Marshall Editorial_1

Women with bleeding disorders face many complications during their lifetime. In addition to the usual symptoms associated with bleeding disorders in both men and women, women face challenges such as heavy bleeding with menstruation and pregnancy.

Ariela Marshall, M.D., a Mayo Clinic hematologist, researches bleeding disorders such as hemophilia and von Willebrand disease in women. Dr. Marshall explains women with very severe bleeding disorders may be diagnosed in childhood, as they may display symptoms such as nosebleeds, bleeding in the brain, or bleeding from the gastrointestinal tract. However, if a bleeding disorder is not diagnosed in childhood, women may start having symptoms when they start having menstrual periods.

Women_3 Generations

“Not all women with heavy periods suffer from bleeding disorders, but women who have heavy periods are more likely to have a bleeding disorder than women who do not have heavy periods,” Dr. Marshall says.

According to Dr. Marshall, due to a lack of awareness that heavy periods can be the sign of a bleeding disorder and sometimes should be worked up further. Bleeding disorders are sometimes not diagnosed as early as they could be.

“Sometimes, when teens tell people that they have very heavy periods, they get told things like, ‘things are different for every woman’ or even ‘it’s something you have to deal with’,” Dr. Marshall says. “If a doctor doesn’t ask more questions about the bleeding and see if further workup is needed, it can be a missed opportunity to diagnose and treat a bleeding disorder and improve the woman’s quality of life.”

As a result, some women have even gone on to have hysterectomies because of very heavy menstrual periods that happen because of their bleeding disorder.

“Had they been diagnosed earlier on, they may have been able to get treatment for their heavy periods and other bleeding symptoms and in some cases may have been able to avoid needing the hysterectomy,” Dr. Marshall says.

One of Dr. Marshall’s specific interests is how to manage pregnancy in patients with inherited bleeding disorders and extra methods of caution that are practiced to keep the mother and the baby safe before, during and after delivery. Below, she shares some of the complications a woman with a bleeding disorder might experience during pregnancy.

“Every pregnancy is different, but for all women with bleeding disorders we need to take special precautions, especially starting at about 36 weeks, so that we are prepared by the time the woman goes into labor,” Dr. Marshall says.

When a woman with hemophilia is pregnant with a male child, extra caution must be exercised around the time of delivery to prevent increased bleeding risk.Pregnant Mother

“If a woman who is a carrier of hemophilia is having a baby, and the baby is male, there’s a good chance that the child could be affected by hemophilia,” Dr. Marshall says. “Because of this, we want to be very careful for the baby’s health and this means not doing things like using forceps or vacuums for delivery.”

For a lot of women, the choice to get an epidural is a big decision. According to Dr. Marshall, extra consideration goes into this decision for women with bleeding disorders because an epidural represents a high risk for bleeding. Further caution and preparation must be taken to ensure the mother’s factor levels are at a safe level. .

The same precautions come into play if the mother must undergo a cesarean section delivery (C-section).

Though women with bleeding disorders are mostly at a disadvantage during the course of their lifetime, Dr. Marshall explains they do have one advantage. Levels of von Willebrand proteins naturally go up during the course of pregnancy, and while a woman without von Willebrand disease is at a higher risk for blood clots during those nine months, a woman with the disease reaches an ideal level.

“Factor VIII levels and von Willebrand proteins naturally increase during pregnancy for all women,” Dr. Marshall says. “The reason for this is that women lose blood during delivery and the body is naturally trying to protect itself from bleeding by increasing the levels of Von Willebrand and factor VIII, which helps decrease bleeding.”

Therefore, women with Von Willebrand disease and hemophilia A are relatively protected from bleeding during pregnancy.

“Many of our patients with Von Willebrand disease and hemophilia A don’t need any treatment at all during the course of their pregnancy,” Dr. Marshall says. “We don’t even need to check their levels throughout most of the pregnancy, until around week 36, because we know that the levels increase in all women as the body prepares itself for delivery.”

However, immediately after delivery, a woman’s Von Willebrand levels must be closely monitored and the natural rise in protein levels ceases to exist.

“Von Willebrand levels crash back to normal anywhere from a couple of hours to a couple of days following delivery,” Dr. Marshall says. “We closely monitor the patient for excessive blood loss to guard against a postpartum hemorrhage.”

While many people dread getting older, aging calls for a sigh of relief among some women with bleeding disorders. Women with von Willebrand disease may see improvements with their disease as they age, since von Willebrand levels naturally increase in all people as they age.

“Sometimes, the normal ageing process is treatment enough,” Dr. Marshall says.

As for hemophilia, Dr. Marshall says that there may be some increase in factor levels as a person ages, though complete normalization is not as common as with von Willebrand disease. For hemophilia A, Dr. Marshall says that factor 8 levels may increase with inflammation in the body and somewhat with aging, but for hemophilia B increases in factor 9 levels are not as common.

Menstruation, pregnancy, and aging are complicated enough for all women. Add bleeding disorders into the mix, and they are faced with even more obstacles throughout the course of their lives. Dr. Marshall hopes that by raising awareness about bleeding disorders in women specifically, there will be a global increase in diagnoses early on to better care for women throughout their lives.

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Read these related blog posts, “Bleeding disorders in women,” and “Hemophilia: from Mayo Clinic patient, to employee, to Connect moderator.













Wed, Sep 27 1:00pm · Bleeding disorders in women

Dr. Marshall Editorial_1

Did you know as many as 1 in 100 women live with a bleeding disorder? With help from health care providers such as Ariela Marshall, M.D., a Mayo Clinic hematologist and researcher, awareness of the diseases, diagnoses and treatments of bleeding disorders in women are improving.

“It is important to note that not everybody who has a lot of bleeding necessarily has a bleeding disorder,” Dr. Marshall says. “However, with better knowledge and testing, when a patient comes in with bleeding concerns, they go through a whole list of questions regarding their bleeding episodes. It is decided whether or not further investigation is needed.”

Women who are tested could have one of several types of bleeding disorders, but the most common is with a deficiency in a protein called von Willebrand, that helps blood clot. Dr. Marshall explains there are three types of von Willebrand deficiencies:

  • Type 1 von Willebrand
    This is autosomal dominant, meaning you can get it from either parent. Type 1, the most common, is a numbers problem. The body does not have enough von Willebrand proteins present to help with bleeding. Treatment aims to increase the amount of von Willebrand proteins in the body by using desmopressin. Desmopressin, which trigger the body to release its own stores of von Willebrand, are only used during bleeding episodes (i.e., onset of menstruation) and medical procedures.
  • Type 2 von Willebrand
    This has four subtypes: 2A, 2B, 2M and 2N. In each variant of type 2, the von Willebrand protein is present, but the protein does not function properly. To treat this form, a von Willebrand concentrate is used to produce a von Willebrand factor rather than your own. Type 2 also is treated during bleeding episodes or procedures.
  • Type 3 von Willebrand
    This is the most rare type and features a complete absence of the von Willebrand protein. People with this type often experience severe bleeding symptoms starting at an early age. In terms of treatment, this type requires more regular von Willebrand concentrate. Often, a person with type 3 needs von Willebrand concentrate on a regular schedule to bleeding complications.

While von Willebrand is the most common bleeding disorder in women, they can be diagnosed with other disorders more commonly associated with men, such as hemophilia.

“People typically think of hemophilia as something only men get,” Dr. Marshall says. “But women who carry hemophilia can exhibit bleeding symptoms.”

When a woman is a carrier of hemophilia, it means they carry hemophilia on one of their two X chromosomes. Hemophilia commonly is associated with men because a male only receives one X chromosome and has a 50-50 chance of receiving the affected chromosome from his mother.

According to Dr. Marshall, the thinking of what it means to be a carrier of hemophilia has evolved.

“If a woman carries hemophilia, [she] can actually exhibit bleeding symptoms,” Dr. Marshall says. “It has been under recognized, and, now, rather than saying women are carriers of hemophilia, we say that they have a mild hemophilia if they have bleeding symptoms.”

Woman who experience hemophilia-related bleeding symptoms receive the same factor replacement therapy that a male receives.

Bleeding disorders affect women differently than men due to natural differences that women face during stages of their life.

Take a sneak peek at part two’s blog on how bleeding disorders affect women differently:

“Not all females with heavy periods suffer from bleeding disorders, but those who do have heavy periods are more likely to have a bleeding disorder than females who do not experience heavy menstrual periods,” Dr. Marshall says.

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Read this related blog post, “Hemophilia: From Mayo Clinic patient, to employee, to Connect moderator.”

Autosomal Dominant

Autosomal Dominant

Tue, Sep 19 10:00am · Mayo Clinic Minute: Blood Test Basics

Hematologist Rajiv Pruthi, M.B.B.S., explains what happens when a patient comes to Mayo Clinic and undergoes a routine blood test.

“Generally, we do what we call a complete blood count (CBC),” Dr. Pruthi says. “Sometimes patients may have minimum or no symptoms and the first sign is abnormalities on your complete blood count.”

Want to continue the conversation about your hematological issue? Find or start your discussion in the Blood Cancers & Disorders group.

Blood cells diagram

Mon, Aug 21 11:00am · Florida Blood and Marrow Transplantation Program earns national accreditation renewal

BMT Illustration

Original story from Mayo Clinic News Network

The Blood and Marrow Transplantation Program of Mayo Clinic’s Florida campus, Nemours Children’s Specialty Care, Jacksonville, and Wolfson Children’s Hospital has been awarded a three-year accreditation renewal through November 2019 by the Foundation for the Accreditation of Cellular Therapy. The foundation awarded the accreditation renewal after a rigorous process of inspection of all collection, clinical and laboratory facilities at the three locations.

The joint program was created in 2001 to allow for greater collaboration in physician and staff expertise, research and clinical protocols among Mayo Clinic, Wolfson Children’s Hospital, and Nemours Children’s Specialty Care, Jacksonville. Patient referrals to the program come not only from physicians in Jacksonville, Florida, and across Florida and South Georgia, but from across the U.S. and internationally.

Since it was established, the combined program has transplanted more than 1,000 patients with a variety of illnesses including leukemia neuroblastoma, bone marrow disorders, multiple myeloma lymphoma, brain tumors, Ewing’s sarcoma, and amyloidosis. Stem cells for transplant may be obtained from the patients themselves (autologous) or from immediate family members, volunteer unrelated adult marrow donors or donated umbilical cord blood donor units.

The program shares a single cryopreservation laboratory at Mayo Clinic, where hematopoietic stem cells are frozen and processed. Mayo maintains the program’s adult Blood and Marrow Transplant Unit, and Wolfson Children’s Hospital maintains Pediatric Blood and Marrow Transplant beds on the Hematology/Oncology Unit in the J. Wayne and Delores Barr Weaver Tower. The joint program shares information systems, quality, and other clinical and administrative staff.

Current medical directors for the program include Dr. Vivek Roy,overall program director and the medical director of the Adult Blood and Marrow Transplant Program at Mayo Clinic; Dr. Michael Joyce, medical director of the Pediatric Blood and Marrow Transplant Program, Nemours Children’s Specialty Care, Jacksonville; and Dr. Abba Zubair,  medical director of the Adult Apheresis Program and the Cryopreservation Laboratory at Mayo Clinic’s Florida campus.

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Wed, Aug 2 12:00pm · ‘A living drug’ to fight leukemia

Leukemia Cells

Original story from News Network

leukemia treatment that uses a patient’s own cells to boost immunity and fight cancer has been forwarded for approval by a U.S. Food and Drug Administration (FDA) panel of experts. The unanimous recommendation for the treatment was made this week, and the FDA is expected to make its approval decision in a few months.

Dr. Yi Lin, a hematologist with the Mayo Clinic Cancer Center, says this is a groundbreaking new way of treating children and young adults with B-cell acute lymphoblastic leukemia. “Each dose is an individualized treatment made by genetically changing the patient’s own T-cells to strengthen those cells’ ability to kill leukemia cells,” says Dr. Lin. “This is completely different from the other off-the-shelf drugs that are currently available to treat this disease. The response rate of this treatment seen to date is impressive, compared to other available drugs.”

Dr. Lin says the treatment comes with some potentially serious side effects in the first month after infusion that are unique to immunotherapy and different from the side  effects of chemotherapy or stem cell transplant. She emphasizes that specialized expertise from a trained medical team to monitor and manage these side effects, is necessary to safely support the patients through the treatment.

The FDA requires patients who receive gene therapy be monitored for 15 years. “As this treatment begins to enter into clinical practice, it will need to start with academic centers of excellence with experience and training in these treatments,” says Dr. Lin. “We will learn more about the logistics of implementing this treatment into clinical practice.”

 “This is a remarkable feat in making this very complicated technology accessible to more patients. FDA approval of this first treatment of its kind will give recognition and tribute to an example of successful partnership between academia and industry to bring meaningful treatment to patients.” – Dr. Yi Lin

More research is needed to understand the late effect of the treatment and to examine whether there’s a role in using the treatment earlier in the disease. “We also need to improve the treatment to reduce the side-effects, but this approval is only the beginning of a new era of cellular immunotherapy in cancer,” says Dr. Lin.

Researchers have worked in multiple academic centers for the past three decades to develop this genetic technology. Dr. Lin says it’s good to see industry companies joining forces to expedite moving this technology into multi center clinical trial testing. She says, “This is a remarkable feat in making this very complicated technology accessible to more patients. FDA approval of this first treatment of its kind will be recognition and tribute to an example of successful partnership between academia and industry to bring meaningful treatment to patients.”

The next cancer type to be reviewed by the FDA for chimeric antigen receptor T-cell (CART) therapy treatment will be non-Hodgkin lymphoma. Dr. Lin says FDA review for that research is anticipated later 2017. She also says Mayo Clinic has an active trial portfolio with trials in lymphomamyeloma, and acute lymphoblastic leukemia. Dr. Lin adds, “We are also preparing for CART treatment in clinical practice when this becomes FDA-approved.”

Mon, Jul 3 12:00pm · Bone Marrow Transplant Is Answer for Mom of Seven Battling Aplastic Anemia

Kristen Soley Family Photo

Original story from Sharing Mayo Clinic

When her doctors suspected Kristen Soley had aplastic anemia, a rare condition in which the body stops making enough new blood cells, she says something told her to call Mayo Clinic.

Aplastic anemia carries with it a high risk of infections and uncontrolled bleeding. It can develop at any age and can occur suddenly. In Kristen’s case, signs that something was wrong included swelling and bruising around her ankles.

Kristen and her husband, Nate, drove from their home in Waverly, Minnesota, to Mayo Clinic’s Rochester campus, where her diagnosis was confirmed, and doctors outlined a treatment plan. 

“They ran a battery of tests and left no stone unturned,” she says. “I was so impressed with Dr. (David) Rosenman. In his first meeting with us, he reiterated what had happened to me in the last month and a half without even glancing at my chart. He’d taken it all in that quickly.”

Kristen remained hospitalized for two weeks and had multiple blood transfusions — necessary until her body resumed making blood cells. Next was treatment with a drug called anti-thymocyte globulin, which is given through intravenous infusion. She was able to have this therapy at a hospital close to her home, with Mayo Clinic overseeing her care and coordinating with the hospital.

“Dr. (Konstantinos) Leventakos and his team were unbelievable at coordinating with other providers,” Kristen says. Dr. Leventakos is a resident in hematology and oncology at Mayo Clinic School of Graduate Medical Education, who was part of Kristen’s care team. “I was in awe of how smoothly everything went throughout my treatment. The Mayo team always kept me informed, which made my life a lot easier.”

More difficult was being away from her seven children, who she home schools. “I had to stay at my mom’s for six weeks, because the flu was running through my house, and I couldn’t be exposed to it,” she says.

When the anti-thymocyte globulin therapy proved ineffective, Kristen resumed regular blood transfusions — some at Mayo Clinic and some close to home.

“Every doctor we’ve had has been amazing and touched our hearts. They didn’t just heal my body — they healed the whole person.” – Kristen Soley

The next line of treatment was a bone marrow transplant, which infuses healthy stem cells into the body to replace damaged or diseased bone marrow. All three of Kristen’s sisters were happy to be tested for donor compatibility, two were considered possible candidates, and one was selected as the best match.

“My doctors at Mayo Clinic didn’t sugarcoat anything. Dr. (William) Hogan (a Mayo Clinic hematologist) and the rest of the bone marrow transplant staff were honest about the risks of transplantation and explained what to expect,” Kristen says. She spent a week in the hospital preparing for the bone marrow transplant, which she says couldn’t have been smoother.

“It went beautifully,” she says. “It’s really just another transfusion.”

Two days later, Kristen moved to the Gift of Life Transplant House near Mayo Clinic, where she remained for 35 days. That allowed her to be near Mayo Clinic until she had recovered enough to return home.

“I was able to go home much sooner than expected, because everything went so well,” says Kristen.

As her recovery continued, however, Kristen developed acute graft versus host disease, in which the body sees the donor stem cells as something foreign and attacks them. She returned to Mayo Clinic for a couple of days for treatment. And she continues to take medication to prevent infection, because her immune system has been compromised.

“Every time something came up during this journey, Mayo was quick to respond and always got it right,” Kristen says. “I’ve gained such trust in the staff and doctors there. I inherently trust their judgment. Every doctor we’ve had has been amazing and touched our hearts. They didn’t just heal my body — they healed the whole person. They could always read what we needed.”

Kristen says her experience with aplastic anemia also reinforced her already-strong faith. “I have more peace and joy in my life now,” she says.

“I’ve learned that things will be fine even in the throes of life-threatening sickness.”

Along with her faith, Kristen says her strong support network was key to being able to focus on her health. “We were surrounded by a network of friends and family who cared for and home schooled our kids while I was sick,” Kristin says. “My sister, Monica, selflessly donated bone marrow to help me. And Mayo Clinic was there for us. We fell in love with it and Rochester.”

And she’s optimistic about the future. “I’m cured now — my body is creating blood cells,” she says. “It’s a great feeling to know the treatment worked.”

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