Dear Perth Mum,
I am sorry you are having so many frustrations with the Medical Profession. Coagulation disorders are not the usual order of business for Haemotolgists (UK English spelling) , Of the four specialists I have experience with, only one had more than one serious vWD patient experience and he was with a Haemophilia Clinic. If there is one in Perth, you should see if you can get an appointment for an appraisal of your condition. The blood tests necessary to diagnose the type of vWD include, forgive my spelling, Ristocetin C co-factor activity, VWF antigen activity and Factor VIII activity for starters. If your Von Willebrands activity is much less than 10 % you might have Type III vWD. If it is higher than it might be Type I vWD. However there are several types of Type II vWD which require further tests to specify. One test is called a blood smear or multimere test. This test looks at the size of the VWF particles in the blood. Usually the VWF proteins travel through the system in small groups called multimeres. Your groups can be mostly small, normal or mostly large. But wait, there is more, Sometimes your VWF proteins have the wrong shape and are ineffective in the clotting process. . A multimere test helps distinguish the four possibilities. Normal distribution puts you back in type one or three depending on the amount of VWF in the blood. The other outcomes put you in one of the Type II categories. The treatment for the types is different which is why your armband should say which type you have. Now continuing with vWD types, there is an additional complication. In forming a clot to stop bleeding, the Von Willebrands Factor (VWF) links up with a Factor VIII protein that also circulates in the blood. If you lack Factor VIII to a degree you have Haemophilia A. You can have both factors missing, like me, and be classified as von Willebrands Type III and Haemophilia A. My factor tests are much less than 10 percent. I bleed profusely from any external cut and from any blood vessel that breaks inside my body. I am presently bleeding from a broken AVM (arterio-venosal malformation) in my small intestine. I had an upper GI and colonoscopy to eliminate bleeding in the stomach and colon. Since the bleeding is continuing, it must be in the small bowel. I have my own Haemocult test kit in the bathroom and I test my stool whenever the color is slightly dark. The test paper turns blue if blood is coming through the digestive tract. I don't swallow slow-iron supplements because they make the test positive. I rely on iron infusions to rebuild my iron supplies and I eat dark leafy vegetables like spinach and broccoli. Blood from the colon comes out somewhat red. If the bleed is higher up in the GI tract it will just darken the stool so test often. You can get anemic very quickly by failing to monitor the stool and that puts you in the emergency room for blood transfusions. That is not a good plan. The haemocult test kits are readily available on Amazon and cost about $0.75/test, well worth the price. I use about 100 a year which gives you an idea of the test rates. I have had several bleeding episodes that I detected early and got treatment before transfusions were necessary.
Now then, besides transexamic acid (aminocaproic acid or Amicar) and ddavp, which are useful for some Type I cases, what can the serious bleeder expect at the Haemotologist Office and Hospital? The first step is to discuss P-Humate/Alphanate treatment by intravenous infusion. This material contains VWF and Factor VIII proteins collected and purified from blood donations of others. It is very pricy. My typical treatment runs up to $25000/five infusions which usually suffice to stop a AVM from oozing out blood in the intestine. If you are in the serious category like me, then you need to get the Haemotolgist to insist that your local Hospital keep a supply of the dried factor concentrate on hand as, in Florida, where I live, no Hospital keeps it in stock except my local Hospital, which finally decided that knowing I was in the neighborhood and might die before the drug could be airlifted, found a company that loans them a supply and only charges for the amount used. The shelf-life of the drug is three years.
For those with less serious cases, an injection or nasal spray(Stimate) of a drug called ddavp (desmopressin) often causes coagulation to begin by releasing Factor VIII and possibly, VWF factor from endothelial cells (the cells that make blood vessels among other places) into the blood stream. I am a ddavp non-responder as the best ddavp did for me was raise the level of VWF to near 20%,
If you have a severe bleed, a Haemotologist might perform a ddavp effectiveness study by measuring your factors, give you ddavp, wait two hours and do the tests again. If your factors rise enough you are a good candidate for ddavp treatment which is cheap.
Von Willebrands patients tend to have APTT tests above the normal range. I typically test between sixty and ninety seconds where high normal is 32 seconds. It is not a definitive test for vWD, It just goes with slow coagulation, but most Hospitals can do this test in house and if you show up bleeding, that test will be surely done. It is your job to convince the doctors at the Hospital that you indeed have vWD and or Haemophilia A and need care that goes beyond a pressure bandage or a packing for your nosebleed..
Now, finally, if you have been transfused with whole blood or packed red blood cells (PRBC), or you have been given Factor infusions (P-humate or Alphanate) your body immune system might generate antibodies to the foreign factor molecules and reduce the effectiveness of the factor treatment or you might get an allergic reaction to treatment. Your doctors need to know your history so they can be ready if you show signs of allergic reaction. Furthermore, the dosage will depend on whether you have developed inhibitors in you system for Factor VIII or VWF from treatments. There is a test for the presence of inhibitors called a mixing test. This can be done. It consists of measuring your blood mixed with with standard blood and measuring again after incubating it for a couple of hours. If your blood has inhibitors it will destroy the Factor VIII in the standard blood after incubation. Your doctor needs to know this to adjust your treatment. I live a good life even though I appear to have a sword hanging by a thread over my head. If I am close to my Hospital and Haemotologist, I will survive. I do wear heavy boots out doors, avoid dogs, stay ouI of "blood and guts" bars, and don't juggle chain saws. I am careful not to eat food that will inflame my GI tract. I take really good care of my teeth and gums because dental work is pretty much out of the question.
So I hope this helps you have a background of what to discuss with your doctor. They are not mind-readers and you need to help point the way for them to go. A good doctor would listen to your concerns about which tests to do. It helps to know the vocabulary of Haemotology so take this note with you and feel free to share it with your care providers. I think my information is correct and up to date but I am not a medical doctor. I am a professional patient, however, and I always prepare myself before I go into the hospital. I know how to contact administrators and I know how to deal with hospital protocols so I get the treatment I deserve. I always have my laptop with me and use it to e-mail my concerns straight to the hospital contact page. That really helps get the ball rolling. Good luck Perth Mom and all others who have to deal with Orphan diseases like vWD and Haemophilia A.
John the elder