Version May 2024
INTRODUCTION — This topic was written by an individual patient diagnosed with von Willebrand disease (VWD). It is intended to offer clinicians insight into the experience of a single individual from that individual's point of view. This description of a particular patient's experience is not intended to be comprehensive or to provide recommendations regarding diagnosis, treatment, and/or medication information. It is not intended to be medical advice or to be a substitute for the medical advice, diagnosis, or treatment of a health care provider based on the health care provider's examination and assessment of a patient's specific and unique circumstances.
For related clinical topics, please see:
●(See "Approach to the adult with a suspected bleeding disorder".)
●(See "Clinical presentation and diagnosis of von Willebrand disease".)
●(See "von Willebrand disease (VWD): Gynecologic and obstetric considerations".)
●(See "von Willebrand disease (VWD): Treatment of major bleeding and major surgery".)
●(See "Pathophysiology of von Willebrand disease".)
●(See "Causes and diagnosis of iron deficiency and iron deficiency anemia in adults".)
●(See "Treatment of iron deficiency anemia in adults".)
UpToDate also offers patient education materials. "The Basics" topics are short overviews written in plain language, at the 5th to 6th grade reading level, that answer the main questions a patient is likely to have about their condition. "Beyond the Basics" topics are written at the 10th to 12th grade reading level and are intended for readers who are seeking more detail and are comfortable with some medical terminology. You can share this content directly with your patients:
●(See "Patient education: von Willebrand disease (The Basics)".)
●(See "Patient education: Anemia caused by low iron (The Basics)".)
●(See "Patient education: von Willebrand disease (Beyond the Basics)".)
●(See "Patient education: Heavy or prolonged menstrual bleeding (menorrhagia) (Beyond the Basics)".)
●(See "Patient education: Abnormal uterine bleeding (Beyond the Basics)".)
●(See "Patient education: Anemia caused by low iron in adults (Beyond the Basics)".)
BEFORE DIAGNOSIS — von Willebrand disease (VWD) is a lifelong condition, but I was not diagnosed with VWD or any bleeding disorder until I was 31 years old, even though I had a severe postpartum hemorrhage years before. In retrospect, all the clues were there, but neither I nor any of my doctors put them all together.
Bleeding symptoms — I had many abnormal bleeding events, but I (and various doctors I saw) treated them all as isolated incidents rather than a pattern of abnormal bleeding.
●Easy bruising – As a child, I wondered why I bruised much more easily than my peers. I even asked my family physician after reading young adult fiction novels about teens diagnosed with leukemia, worried that something sinister might be happening. The noticeable bruising was attributed to my being an active child with a fair complexion.
●Gum bleeding – My gums would often bleed when I flossed, which the dental hygienist would note at each visit.
●Nosebleeds – I experienced worsening nosebleeds as I got older, sometimes to the point of being frightening. I was referred to an ear, nose, and throat specialist who told me there was no clear physical cause for the nose bleeds and to follow up further with my allergist. Later, after I learned to drive and got married, the nosebleeds could happen while I was driving on the highway or could last so long that sometimes I called my husband in a panic.
●Heavy periods – My periods began at age 12. They were disruptive – heavy and lasting for many days. I tried every brand and style of pads, tampons, and eventually the early iterations of the menstrual cup. Many of these products were uncomfortable, often worsening the already debilitating cramps, and they could never be used alone as I would quickly overflow and require a heavy pad anyway.
In school, I was terrified of standing up in class after sitting, for fear of the gush of heavy blood and clots that could lead to bleeding through my clothing. The bulky pads were awkward and limited the clothing I could wear.
On every pap smear and gynecologic exam, it was noted that I had a friable cervix, requiring me to wear a pad afterwards due to bleeding. At age 17, I was prescribed birth control pills for contraception, and these did reduce the bleeding, but they affected my mood, and I chose not to continue them.
By my late 20s, after having postpartum bleeding with two deliveries and still not having been diagnosed with VWD, I began to experience even heavier menstrual bleeding. I was passing large clots, some the size of a golf ball or larger. I was changing fully saturated pads every one to two hours during the heaviest flow days and wearing multiple pads overnight to try to prevent leaks.
Most of my periods lasted at least a week, and my cycles were shorter than 28 days. The pain was debilitating, and I was attempting to manage it with acetaminophen and ibuprofen. The frequent use of nonsteroidal antiinflammatory drugs (NSAIDs) caused gastritis. In retrospect, it probably made the bleeding from VWD worse as well, but I still did not have the diagnosis of a bleeding disorder. It felt like I was spending so much of my life dealing with my period and everything that went along with it.
●Postpartum hemorrhage – The postpartum bleeding with my first child started almost immediately after delivery. I was 24 at my first pregnancy, and I was constantly exhausted, possibly due to undiagnosed iron deficiency. My labor was long and difficult due to the position of the baby in the birth canal, resulting in a second-degree perineal tear and significant blood loss during delivery.
The next part of the story is a bit of a blur to me because I lost consciousness due to severe bleeding. Most of what I know came from my husband's description.
I remember being in the delivery room, the lights dimmed, the baby on my chest, when suddenly I began to feel unwell, like I might vomit. I asked my husband to get someone, but before he could leave the room I lost consciousness – the baby still on my chest. Afterwards, he told me that he couldn't decide whether to take the time to grab the baby or to run for help immediately. He stuck his head out the door and yelled.
The next thing I remember was waking up to doctors and nurses all around me hooking up intravenous fluids and monitors, everyone moving quickly. I was not transfused, but when I read my discharge summary, I learned that my hemoglobin had gone down to 79 g/L (7.9 g/dL). I was so swollen from all the extra fluids that it was hard to breastfeed my newborn baby.
I was not told this was a postpartum hemorrhage, although my husband, an EMT, later told me the amount of blood loss was surprisingly large. At the time, I was told that bleeding was due to the trauma of the birth. The discharge summary did not recommend any follow up for bleeding. I received iron supplements, but correction of iron deficiency was not monitored. (See 'Iron deficiency' below.)
My husband and I did not spend that much time talking about what happened once we got home. We were exhausted and sleep-deprived and immediately focused on caring for our baby. Even more than a decade later, we have not been eager to revisit that day.
Throughout the 20 years of different bleeding episodes and pain from endometriosis, I knew that something was wrong, but I wasn't able to piece it together. I started to doubt myself, thinking I might be a hypochondriac. I still worry that I may have been overreacting, even though I now know there is a clear and valid explanation. Years of being told there was nothing wrong are hard to erase from my thought processes.
The lack of referral for bleeding disorders evaluation did not seem to be due to indifference or lack of care. These doctors were kind and caring and willing to refer me to different specialists. The doctors in the hospital during my first pregnancy and the midwife during my second pregnancy were kind and well-meaning. What was missing was having one individual who could put all the pieces of the puzzle together to realize that I had abnormal bleeding and that there was a simple, unifying diagnosis. Each of them saw a tiny piece of the picture, and none of them saw the whole.
Endometriosis — My story is actually of two conditions, VWD and endometriosis, which sometimes co-occur. In some ways, this may have confused the picture, but they were interconnected.
My diagnosis of endometriosis was also delayed. Many of my symptoms were gastrointestinal, and I was referred to a gastroenterology team, but endometriosis was not on their radar.
The feeling of being dismissed by so many doctors for both conditions took a toll and made me question myself. I was fearful that by repeatedly pursuing further investigation for the pain, I may be mistakenly assumed to be seeking drugs. At the same time, it was frustrating to know something was wrong and not be taken seriously.
I was treated with oral contraceptives starting at age 17, and this helped with the pain, but it affected my mood to the point that I instead chose the pain and heavy bleeding.
During one gynecologic examination, a nodule was found on my posterior vaginal wall. I was referred for magnetic resonance imaging (MRI) and told to follow up with a gynecological oncologist in case this might be cancer. At the age of 23, weeks before my wedding, this is what occupied my thoughts. Luckily, the nodule was determined to be endometriosis. The recommendations at the time were to go back on oral contraceptives, but also to have children while young if at all possible.
Later, after VWD was diagnosed, I was treated with dienogest (a progestin) to manage my menstrual bleeding and endometriosis symptoms.
Ultimately, I decided to have a total hysterectomy and oophorectomy. Luckily, this happened after VWD was diagnosed, with appropriate perioperative planning and treatment with von Willebrand factor (VWF) concentrates.
Iron deficiency — As a teenager, my doctor often commented that I looked tired, but this was chalked up to being a busy student involved in many activities.
My first pregnancy, at age 24, was exhausting. I was constantly tired, felt like I could hardly walk up the stairs, and couldn't catch my breath. I was treated with iron supplements, and my energy improved a bit, but I traded that for gastrointestinal upset and constipation.
After the pregnancy and postpartum bleeding, I continued on oral iron supplements, but my hemoglobin and ferritin were not monitored. My family doctor did not initially believe I was correct about my hemoglobin level until she looked up the results herself. I was so exhausted and overwhelmed with a newborn that I did not put much thought into it myself.
My periods resumed, but only for a couple of cycles before I became pregnant again, at age 26, this time choosing a midwife in hopes of having a single person manage my pregnancy and delivery, rather than the multiple house staff who came and went during my delivery at a busy teaching hospital.
I continued to take ferrous gluconate during the second pregnancy and overall felt much better than during my first. My second labor and delivery was uneventful, with an uncomplicated delivery in the hospital and a smoother recovery period. However, I continued to bleed for much longer than expected postpartum. My diagnosis of VWD was still five years away.
After having two children, I underwent extensive endometriosis surgery. By this time, I had a diagnosis of VWD and iron deficiency. My hematologist recommended an intravenous iron infusion rather than prolonged oral iron supplementation. This required only one visit to a clinic for the infusion, and within six weeks, my energy level improved, my mind no longer felt foggy, and I was not feeling short of breath. I was amazed how quick and easy the treatment was with intravenous iron; it allowed me to proceed with the surgery, rather than playing catch up with oral iron, which was hard to tolerate and could not keep up with the menstrual blood loss the surgery was intended to treat.
REALIZING I HAD A BLEEDING DISORDER
Fortuitous discussion — My "aha moment" and discovery that I had an objective disorder did not come from any of the medical teams caring for me, even after I had a severe postpartum hemorrhage.
Instead, my clue to the diagnosis came when I was 31 years old, from a chance conversation with my husband's relative who had begun working as a research associate with a hematologist who specialized in women and bleeding disorders.
We had been discussing my traumatic birth experience, and she noted that it sounded like I had a postpartum hemorrhage. She asked a few more questions about other bleeding I had experienced, such as nosebleeds and heavy periods, and she sent me a copy of a questionnaire, a self-administered bleeding assessment tool (self-BAT).
Objective bleeding assessment — The self-BAT asked a series of questions about bleeding. Examples are available online:
●https://bleedingscore.certe.nl/
A normal score for a female (indicating a bleeding disorder is unlikely) is below 6. My score was at least 13. When I read through the questions and my answers, so many pieces came together. The diagnosis of a bleeding disorder explained the easy bruising, bleeding gums, nosebleeds, postpartum hemorrhage, iron deficiency, and of course, heavy menstrual bleeding.
I took my completed screening tool to my family physician and requested she send it, along with a referral, to the hematologist.
While awaiting my initial consult with the hematologist, I was seen by a gynecologist who, when I mentioned my concerns and upcoming appointment, sent me for some preliminary bloodwork. This showed my von Willebrand factor (VWF) activity was 34 percent and confirmed that my bleeding disorder was VWD.
AFTER DIAGNOSIS
Validation and support — At the age of 31, nearly 20 years after the onset of heavy menstrual bleeding, I was officially diagnosed. My doctor explained the different types of VWD, and that because my body does produce von Willebrand factor (VWF), it just does not produce enough to meet my clotting needs, I had type 1 VWD. She also helped me to understand the various factors, such as pregnancy and stress, that can affect VWF levels. I was seen in a specialized multidisciplinary clinic that included hematology and gynecology teams working together to help me manage my VWD and endometriosis.
As serious a condition as VWD is, my diagnosis also brought a sense of validation; my gut feelings of something being off were not an overreaction or just in my head. It was frightening to think of what could have happened prior to my diagnosis and how lucky I was that I had not required a major surgery or experienced a traumatic accident. The specialized medical team, including the hematologist, nurse coordinator, and gynecologist, reassured me that this condition would be manageable.
I am followed regularly in the specialized clinic. I know I can contact the nurse coordinator for any issues related to bleeding, as well as for monitoring lab values such as VWF levels, hemoglobin, and ferritin.
The more educated I have become regarding my condition, the better I am able to advocate for my own care in a respectful manner and to ensure I am seeking the right care from the right provider.
Care plan — Once I had a diagnosis, my plan for future care became clear:
●Desmopressin trial – I had a desmopressin trial that confirmed an increase in VWF with desmopressin. It means I can use desmopressin to manage mild bleeding such as with dental procedures, in combination with tranexamic acid.
●Minor procedures – I have navigated multiple dental and endoscopic procedures with the support of my hematology team without any serious bleeding. Having to limit fluid intake for 24 hours after receiving desmopressin can be challenging, but it is manageable.
●Major procedures – I required two major endometriosis surgeries in my mid-30s. One included a total hysterectomy and oophorectomy to manage bleeding and reduce estrogen production. My hematology team was able to arrange for me to receive VWF concentrates, and they communicated with the surgical team in advance to ensure my VWF levels, hemoglobin, and ferritin were all in range prior to surgery.
The hematology nurse coordinator in particular was very reassuring to both myself and the surgical team, as the administration of the VWF concentrate requires careful monitoring before, during, and after surgery. I did not experience any excessive bleeding before or after either of these surgeries.
●Nosebleeds – I was given nose clamps and tampons to keep with me in case of prolonged nose bleeds. Other treatments are also available.
●Access and follow up – I was provided with a written guide to review and share with my family. I got a wallet card that included contact information for my hematology team and an emergency treatment plan in the event of unexpected major bleeding.
Having access to a multidisciplinary clinic where I can be seen by two specialist teams in one appointment, and the ability for those teams to immediately collaborate and communicate regarding treatment plans, has many benefits for me and the care teams.
Being able to see a hematologist specializing in inherited bleeding disorders has been very helpful; this is someone with the experience and knowledge of the unique needs of patients with bleeding disorders.
The nurse coordinator is a highly trained and experienced specialist nurse who can support patients in navigating a wide range of bleeding management needs. For one of my surgeries at an out-of-area hospital, I did not have access to such a nurse, and much of the responsibility for coordinating the specialized monitoring, medications, and treatment plan fell on me as the patient.
I am pursuing VWD testing for my two children.
Participating in medical education — My story is unique but not unusual. After learning about VWD, I wanted to help teach the next generation of doctors and nurses.
Approximately four years after my diagnosis, I started participating in medical student teaching. I tell my story and answer questions about VWD and my experience. It is rewarding to hear from current students that they value my point of view.
I encourage them to listen, validate, and not minimize concerns about heavy menstrual bleeding or other bleeding symptoms, and to look at the full picture, as these symptoms are not occurring in isolation.
I share with them the value of using a bleeding assessment tool. This short series of questions is easy for patients to use, easy to quantify, and provides a starting point for a general practitioner to refer to hematology.
I also share the positive side of my story. Despite having VWD and endometriosis, I was able to have two children and raise them while holding a full-time job in health care as a palliative care nurse. My experience has given me empathy for other patients and allowed me to see things from both sides.
Advocacy and lessons learned — My story of delayed diagnosis is more common than it should be. Lack of awareness of inherited bleeding disorders likely resulted in missed red flags despite numerous encounters across the health care system.
I have spent a lot of time thinking about why it took so long to come to the right diagnosis. Many factors likely contributed:
●My understanding of whether my menstrual periods were normal was based on what I had noticed with my mother, such as overflow bleeding and staining of clothing and bedding. In hindsight, I recognize that she likely had heavy menstrual bleeding due to VWD as well. It's common for patients in a family with a bleeding disorder to lack a good sense of what is normal.
●Before social media and the plethora of information available to teens today, I was only able to glean information regarding menstruation from health class, magazines, or commercials on television. It was not typical to discuss menstruation with friends or family. Even today, stigma and lack of access to information remain. We need to normalize the conversation for clinicians and patients about menstrual blood loss and its effects on health and quality of life, including what may be abnormal and how to seek further assessment.
●Physicians are too busy and too siloed. After my experience, I understand why people will pay a lot of money to see a nonphysician who takes the time to sit down with them and listen to their entire story. Being in healthcare, I understand it is not the physician's choice to have so little time with their patients, but from the patient's perspective, the reason doesn't matter as much as the need to be heard and have their concerns validated.
At the same time, I am extremely grateful that the chance conversation led to an accurate diagnosis. Although it's rare, some patients with VWD have severe bleeding that can leave them disabled or worse. I appreciate all the members of my care team and the opportunity to participate in educating the next generation.
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
