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!