Very much in need of wisdom from VWD-ers!

General
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1

Hi everyone, I'm a new member and this is my first post on this forum. I was hoping I might be able to ask a few questions of this community, in an attempt to gain some insight into the relatively confusing diagnostic limbo in which I currently find myself. I apologize for the length of this post, but I'm trying my best to be thorough and not leave anything out. Thanks in advance for reading and for any information!!

Backstory: I'm a 31 year old male with no significant history of bleeding symptoms. Never had a nosebleed in my life as far as I can remember and cuts/scrapes have always healed without issue, although I have experienced some minor gum bleeding in response to brushing a bit too vigorously all my life. I also sometimes see a very, very small amount of blood on toilet paper, but never any blood in stool (sorry if that's too much info). Ultimately these symptoms were never of any concern and I never would have thought to bring them to the attention of a doctor.

Fast forward to October 2015, out of nowhere and for no reason I can discern I began developing petechiae everyday. I realize this isn't a symptom commonly associated with VWD, so in case you're not familiar with this symptom, it's just the medical term for minor capillary bleeding under the skin that manifests as pinprick size red dots on the skin. The petechiae are always relatively few in number (one or two on each bicep, one or two on the left and right sides of my trunk, one or two on my hip, maybe 3 or 4 on my chest) but I would get new ones absolutely everyday. I went to my GP regarding this symptom and he basically just performed a CBC and metabolic panel, verified that my platelet count and everything else was normal and told me not to worry about it. After several months with no improvement I went back and was told the same thing, but sensing that I wasn't going to just shut up about this, my GP referred me to a hematologist. Her initial impression was much the same (probably no problem), but she said she wanted to run some tests anyway. A few days later I got a rather sheepish phone call from her, stating that frankly she had no idea what to make of my test results. The tests ordered included Prothrombin time (PT), Activated Partial Thromboplastin Time (PTT), Platelet Function Analyzer-100 (PFA-100), VW antigen, VW RCo, Factor VIII, Factor IX, and Factor XI.

My results showed normal PT and PTT, as well as normal Factor IX and XI. Abnormal results were as follows:

PFA-100: Collagen epinephrine closure time was barely within reference range at 183 seconds (reference range 80-184), but collagen ADP closure time was prolonged at 127 seconds (reference range 56-102). This is apparently very unusual, because generally they're either both normal, both abnormal, or if only one is abnormal it's the epinephrine, so my results were kind of flip-flopped.

VW antigen was low at 28%, VW RCo was low at 27%, and Factor VIII was listed as "slightly low" at 33%. Reference ranges for each of the aforementioned tests began at 50%. The interpretive report indicated that because my VW Ag to RCo ratios was normal a multimer assessment wasn't needed and my results were consistent with either hereditary or acquired Type 1 VWD.

For reasons I don't completely understand my hematologist was very non-committal about saying I had VWD, however. I'm not sure if it's because my symptom history doesn't really match or if something about my labwork throws it into question, but she confessed she really didn't know what was up and referred me on for further testing, which won't be completed until late June. So I suppose this long-winded message is basically just my way of setting up my concerns.

I'd like to ask a few questions and would truly and greatly appreciate any insight that forum members might have to share:

1) Is it possible or common for a person to have hereditary type 1 VWD that was largely asymptomatic for the first 30 years of one's life (maybe just a little gum bleeding during brushing or blood on TP every now and then), only to have symptoms intensify later in life? Basically I'm just trying to figure out if there's a chance I could have had the hereditary version all my life, but been largely asymptomatic until now, because a glance at the possible causes of acquired forms of VWD is pretty intense, and most of the benign causes have already been ruled out in my case (no hypothyroidism, aspirin use, etc.).

2) I'm confused as to why it is that my hematologist doesn't know how to interpret my blood work when the interpretive report I got seemed to suggest that all the VWD-specific tests were in line with a diagnosis of type 1. As far as anyone can see, is there something in the bloodwork that I described or the symptoms pattern I mentioned that actually points away from VWD, or are there other conditions that might also result in low VWD Ag, RCo and Factor VIII?

3) Is there any way to distinguish hereditary vs acquired VWD without specifically testing one's parents? Any distinguishing characteristics or labwork patterns of the acquired form that would help differentiate between the two?

Again, thank you so SO much for reading this dissertation of a post and thank you in advance for your insight!

2

Hi there! My daughter was diagnosed with Type 1 VWD when she was 5. In answer to question one: My daughter was asymptomatic except for constant bruising. She only got tested and diagnosed because I kept pushing the doctors. VWD levels fluctuate by the day. Stress tends to raise the levels as well as other things so I believe it is possible that you could have had this your entire life and not realized it. I know another woman personally that got diagnosed at 40! Your VW factor and Factor VIII levels may just had been on the verge of problematic and then finally dipped down low enough to cause concern.
As for question 2: When my daughter was first tested, the doctor told me he didn’t see anything wrong with her but would test her anyway. A week later I get a call to come repeat the tests because the first set were “inconclusive”. After a another week, the doctor himself called me to inform me that he had no idea what her tests were telling him and that he was going to refer us to the specialist of the specialists, 2 hous away! It took the new doctor 6 months of testing every week to finally come up with her diagnosis of VWD because her testing always seemed to show inconsistencies. It was overy time that they finally saw an average of the right levels and correct information to diagnose her. Since then, she has developed more symptoms and issues that are classic VWD.
And question 3: I am negative for VWD and no one else in my family has any type of bleeding issues. The doctors are holding onto the idea that her biological father may have it (until he gets tested). As far as I have ever been told, that it the only way to test for hereditary verse acquired. I will say that bleeding disorders are only 1% of the world’s population and the statistics the doctor gave me say that of that 1%, only .5% have acquired bleeding disorders. So it seems like it is very rare of the very rare! It is most likely that one of your parents had an extremely mild case of VWD and was asymptomatic and you inherited it. Our specialist says that happens all the time.
I hope that some of this helps or is useful for you. Just know that you are not alone and to always push for answers when you feel that something isn’t right. You are your best advocate.
-B

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Thank you SO much for sharing this information! I'm very sorry to hear that your daughter has developed more symptoms! It's amazing to me how similar the pattern of diagnostic uncertainty was for myself and your daughter: both told by docs that there was likely nothing wrong, both tested and called back by a confused doctor who can't make heads nor tails of the results, and both referred on to the experts!

Also, it's very good to know that a person can inherit VWD from a lineage with no obvious bleeding disorders. All of my grandparents (maternal and paternal) and my mother have all had some kind of major surgery in the past, and to my knowledge none of them have had any severe bleeding complications. The only indications of anything at all in my family are that, according to my mother, she thinks my paternal great grandfather *might* have had some kind of bleeding problem, but she said she thought it had something to do with vitamin k. Also, although my dad has no symptoms of any kind, my mother told me that she thought it took him longer to stop bleeding after a wisdom tooth extraction than it took her when she had hers out. I'm hoping that's a positive indication that maybe there's been some low level VW in my dad's side that I could have inherited.

One follow up question for you or for anyone else who might be reading: how difficult is it to get doctors to test a person's family members following a VWD diagnosis? I ask because I asked my parents if they would please get tested so we could figure out hereditary vs acquired, but they are opposed to even asking their doctor, as they're "certain" he would say no and their insurance wouldn't pay for it since they don't have symptoms. I offered to pay for it myself out of pocket, but they just said it didn't matter because they just knew their doctor wouldn't perform the test unless they were having bleeding symptoms themselves. This doesn't seem to fit with the stories of the folks I've read about on here though. Seems that a lot of families undergo testing following the diagnosis of one family member...



Elizabeth Fernandez said:

Hi there! My daughter was diagnosed with Type 1 VWD when she was 5. In answer to question one: My daughter was asymptomatic except for constant bruising. She only got tested and diagnosed because I kept pushing the doctors. VWD levels fluctuate by the day. Stress tends to raise the levels as well as other things so I believe it is possible that you could have had this your entire life and not realized it. I know another woman personally that got diagnosed at 40! Your VW factor and Factor VIII levels may just had been on the verge of problematic and then finally dipped down low enough to cause concern.
As for question 2: When my daughter was first tested, the doctor told me he didn't see anything wrong with her but would test her anyway. A week later I get a call to come repeat the tests because the first set were "inconclusive". After a another week, the doctor himself called me to inform me that he had no idea what her tests were telling him and that he was going to refer us to the specialist of the specialists, 2 hous away! It took the new doctor 6 months of testing every week to finally come up with her diagnosis of VWD because her testing always seemed to show inconsistencies. It was overy time that they finally saw an average of the right levels and correct information to diagnose her. Since then, she has developed more symptoms and issues that are classic VWD.
And question 3: I am negative for VWD and no one else in my family has any type of bleeding issues. The doctors are holding onto the idea that her biological father may have it (until he gets tested). As far as I have ever been told, that it the only way to test for hereditary verse acquired. I will say that bleeding disorders are only 1% of the world's population and the statistics the doctor gave me say that of that 1%, only .5% have acquired bleeding disorders. So it seems like it is very rare of the very rare! It is most likely that one of your parents had an extremely mild case of VWD and was asymptomatic and you inherited it. Our specialist says that happens all the time.
I hope that some of this helps or is useful for you. Just know that you are not alone and to always push for answers when you feel that something isn't right. You are your best advocate.
-B
4

BT, Helen and others,... thanks for your quick and immediate response!!!!

With regard to directly establishing heredity versus acquiring, I am looking at the question from a similar position. None of my paternal side seems to have symptoms and there are many relatives on that side. From the maternal side, the story is full of mystery and almost no relatives closer than distant cousins, location unknown. One could conclude the females all died from bleeding disorders and the males were few in number because of incomplete pregnancies due to bleeding issues but there is no information out there. I will never know why but it is not a punishment for some egregious sin of my youth!

I will say that there is a difference between acquired VWD and inherited VWD. In the acquired form the body produces all the right proteins, VWF, FVIII, multimeres of the right size, etc. In inherited VWD, the body either fails to produce the proteins in the right number or shape in the "B cells". It's like Goldilocks and the three bears, the soup was too hot, too cold or just right. In my "acquired" type III, my immune system produces antibodies that destroy any VWF and F VIII that gets into my blood stream. My multimeres are ok but they get eliminated as fast as they are made. I don't have clapping heart valves that chop up the multimeres as they pass through the heart, therefore I am left to treat the symptoms as they arise.

As a precaution, I keep a box of Hemocult test kits next to the toilet and check the stool for occult blood whenever it looks dark, (unless I just ate lots of blueberries!) . My hematologist checks my iron levels at regular intervals and I eat lots of dark green vegetables. I wear boots when I go to stores with dogs or shopping carts and I am very aware of sharp things in the environment. My bicycle has three wheels to I won't get road rash and I don't juggle chain saws. I also list as allergies, NSAIDS, SSRI, SNRI, blood thinners and any drug with bleeding as a side effect. I also have topical bleeding treatments like styptic pencils and "woundseal" available as well as lots of tape and gauze in each vehicle, kayak and bike.

Enjoying retirement,

John the elder

5

Hi, I’m confident my VWD would never had have been diagnosed (at 24) if it weren’t for my overnight hospital stay for a half day routine sinus surgery. I bleed through the nose gauze so badly I was taken back into surgery specifically to stop the bleeding. It took 3 test to be diagnosed. The 1st generic test was negative along with the 2nd specific test. It wasn’t until the 3rd that my doctor was confident enough to say I had poor platlet function. I think your doctor is confused by the results because your test reads as epinephrine attachment to the wound site is good yet you have poor electrical conncections (ADP) which is how the cells talk to eachother and would make epinephrine attach (I think! Not MD backgriund but do have a lot of biology)

I look back now and realize how VWD played/s a role in slow healing & recovery, prolonged and easily created bruises, and prolonged bleeding. I have noticed that it is worse in epithelial cell locations (like lips). These also line your blood vessels. I have noticed from time to time single red ponpoint dots that stick around for months perhaps. It is very inconsistent however.

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Thanks very much for all the input everyone!

Goldbloomer, I'm a bit interested in knowing if you had any other minor symptoms prior to the surgery that led to your diagnosis? I'm curious because I'm trying to figure out whether or not some very minor bleeding tendencies I've had for years could possibly be attributed to hereditary VWD: basically I've had a tendency to have very minor gum bleeding when brushing my teeth for as long as I can remember, the occasional fleck of blood on toilet paper, maybe a slightly higher than normal tendency to bruise, and when I had an impacted wisdom tooth removed a few years ago I remember being surprised by how long the bleeding lasted (I'd say 2-3 days...although I don't really have any way of gauging what is normal for that situation), but it definitely wound up stopping on its own eventually. I'm curious if this could be characteristic of mild type 1 VWD, because when I mentioned these things in my history to my hematologist before she did my VWD testing she said very matter of factly that she didn't think these symptoms were severe enough to be characteristic of VWD, and that if I didn't require a blood transfusion or anything after the wisdom tooth surgery then I almost certainly didn't have VWD at that time. I'm really hoping that my VWD is hereditary/congenital so maybe I'm grasping at straws here, but it seems like if a person can have completely asymptomatic VWD then having very minor bleeding tendencies should fall within the spectrum of VWD too right?

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Hi! Welcome to the group. Feel free to share and ask away.

With regards to your experience with getting diagnosed, your story is pretty similar to mine. I had petechia numerous times while growing up, along with easy bruising and some gum bleeding with brushing. Because my sister had petechia, too, and she was found to have low platelets, my family doctor had me tested. All came back normal and I was sent home with instructions to avoid contact sports in school. I took up swimming but even my arm and chest goung through the water would cause petechia on my skin. Tested again several times as a teenager, again all “normal.”

As a got older the petechia occurrences went away. The bruising got worse and when I did have an occasional nosebleed they seemed to take a while to stop. When I had abdominal surgery as an adult, I developed large hematomas and blood clots requiring me to have a transfusion. I never thought to mention any problems with my doctor before the surgery because all my doctors had told me I was normal and the surgery pre-screen should normal blood work results. After the surgery I was sent to a hematologist to see what went wrong. My test results came back pretty much like yours. Everything looked normal because they were in the predefined range of normal but several were just barely within range. My hematologist told me I was a complicated unique diagnostic case of what they call +/- VWD. He said I needed to understand that no matter who tells me my blood is normal, it most definitely is not. Going forward I needed to be treated as a VWD patient, meaning I could no longer take aspirin or ibuprofen under any circumstance and I needed clotting factor treatment before my surgery and possible dental surgery. Personally, I haven’t required to have treatment for some dental surgeries I have had.

You are lucky to have been given a diagnosis before you had a surgery or accident. Unfortunately, most VWD is diagnosed because of a major bleeding event after surgery or personal injury accident. From personal experience my symptoms come and go. Sometimes you could look at me and I will bruise and other times I can go long periods without bruising. My VWD numbers fluctuate wildly, depending on when I’m tested. Also, for me my iron results play a key role in whether I have symptoms. My hematologist told me even being “slightly anemic” (which most all other doctors wouldn’t even worry about or care to mention) can actually be a huge deal for someone with VWD. I need to take iron supplements regularly and receive iron infusions to make sure my iron numbers are high enough.

With regards to your family getting tested, I would highly encourage that they do. If they are scheduling a surgery they most definitely should tell their doctor there is a history of VWD in the family. This should give them causation to be referred to a hematologist for testing and it should be covered by insurance. Actually, surgery doesn’t scare me as much as having a car accident or something because with surgery I can prepare for possible bleeding problems. That is why it is important to know beforehand and you can wear a medic alert bracelet to alert medical personnel to your condition. That is why I encouraged my sister to have her kids tested in case they had an accident on the playground after she mentioned that my niece was having nosebleeds. It’s interesting to hear after you bring it up with family members how it very well is hereditary. The grandmother that used to bruise easily, the mother and daughter with bleeding problems after giving birth, the father with bleeding gums, etc… But no one ever thought it was serious enough to be tested or considered it a problem.

I hope we haven’t confused you further but VWD can be very difficult to understand and individually people have different experiences, especially if you are not a clear cut diagnostic case. Good luck and keep vigilant with your doctors!

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Hi VWDgirl! Thanks very much for the information! It's good to know I'm not the only one who has experienced petechiae as a part of this whole thing. Whenever I look up symptoms online petechiae are generally not mentioned, or if they are they are usually associated exclusively with one of the type 2 sub-types (my results point to type 1, apparently), which kind of had me wondering if I truly have VWD disease or maybe some other platelet function disorder that just kind of looked like VWD. Can I ask what type you have?

9

My case, like probably yours, is complicated. My hematologist puts me at a Type 1, in terms of severity and based on my symptoms. My lab results don’t put me in any defined category because I read as a false negative for VWD. My doctor made the diagnosis interpretively based on my complications after surgery, my childhood problems with bruising, petechia, and nosebleeds. He, also, took into account family history of my parents and siblings to determine that mine is definitely hereditary. Mine is a problem in terms of quality and not quantity. I have enough VWD factor and platelets, they just don’t work well. My Factor VIII Activity, vWF Activity, and VWD factor A are “normal” but at the low end of normal. I, also, have below normal Fe levels, Fe absorption, and Fe saturation which results in low RBCs. The anemia only makes the poor clotting problem worse when I have a major bleeding event. In any case, I respond well to DDAVP for clotting when I need surgery and Fe infusions have helped my anemia. I was worried when I needed my tonsils out but the DDAVP helped. I’m glad I didn’t have them out as a child when I had been misdiagnosed or I would have been in trouble. The petechia and nosebleeds I mostly grew out of and only get them occasionally now. Giving up aspirin, ibuprofen and NSAIDS as instructed has helped with the everyday bruising because I used to take a lot of them for migraines.

I don’t really get caught up in all the lab tests, numbers and categories because whatever it is exactly, the treatment for me is the same. My hematologist says to just be sure to tell all your doctors, surgeons, dentists, and anesthesiologists that I have VWD. In my experience, most will have heard of it but, none, with the exception of my ENT, have had any experience with it so they always have to refer to whatever my hematologist instructs them to do. That is something you are going to have to learn to deal with. I have to tell my dentist every single time that my gums are bleeding after a cleaning because of my VWD and not because I don’t floss enough. I, also, warn the dental hygienist to not freak out if my gums bleed a lot when I know my numbers are particularly low. As well, you need to be firm when a doctor tells you not to worry about a procedure and let them know not to go forward without consulting your hematologist first. Some doctors are ignorant and some are arrogant in their abilities. This is why you need to have a hematologist you trust. Mine has done me well so far. He has held firm against a few of my doctors who thought they knew better.

My hematologist always says “You have me scratching my head every time I do your blood work because on paper you are fine, but obviously you are not. Some day I’m going to do a study on you.” I don’t believe I’m the only one who is in the same boat as me. It’s all very confusing, apparently even to the doctors sometimes!

10

Hi,

VWDgirl may have answered your questions. I didn’t get a notification (or missed it) sorry! I find I bleed longer than what I’d say is normal but not extensively. A paper cut might take 4 minutes instead of 1 to totally stop. For my wisdom teeth I was told 2-3 day was average but mine took about 4 maybe 5 (been awhile). With the sinus surgery it also took an extra couple of days. My hematologist said all of this, though minor, were symptoms of mild type 1 VWD. He described this as why it took three test for him to confirm I had it. It is my understanding that although hereditary each person will have a different severity of it so others in your family may not even notice unless there is a traumatic event (like my case). My VWD is only due to poor platlet functionality and now I realize that is why I’ve always taken so long to heal. I could never figure out as a kid why I always seemed to scab up longer than everyone else.

11

I’ve had VWD for 17 years of my life and diagnosed with it by two different doctors but now my new doctor is saying my blood work came back normal and I get the same thing my last doctor said, “ugh well you were misdiagnosed.” Just 3 years ago I had typed two N. New doctor is saying I don’t have VWD at all… So confused. Need tooth pulled as well and she told me to get my regular dentist to do it even though I have petechia again. Never had my platelets checked said she won’t do it until after the extraction. Just a few years ago I needed all this medicine before I had a procedure like this done. Now I don’t need anything…

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I’m on the same boat as you… And Im losing trust with these doctors.