Von Willebrand Disease (VWD) Subtypes: Type 1, 2A, 2B, 2M, 2N, and 3
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- Опубликовано: 14 окт 2024
- Von Willebrand Disease (VWD) Subtypes: Type 1, 2A, 2B, 2M, 2N, and Type 3 VWD.
Von-Willebrand factor (vWF) comes from the meagakaryocytes (bone marrow) as well as the Weibel-Palade bodies (endothelial cells). Von Willebrand factor (vWF) helps the platelets adhere to the sub endothelial collagen via GP1b receptor on the platelet.
Von Willebrand disease (vWD) is the most common inherited bleeding disorder worldwide.
Primary hemostasis involves forming a platelet plug (thrombocytes) whereas secondary hemostasis involves making a fibrin thrombus (coagulation factors).
Ionized calcium helps blood coagulate.
We test for primary hemostasis via platelet count, bleeding time, and platelet aggregometry.
We test secondary Hemostasis via prothrombin time (PT), activated partial thromboplastin time (aPTT), and the old coagulation time (or clotting time, or thrombin time).
Von Willebrand Dusease (vWD) affects primary as well as secondary Hemostasis.
Hemolytic Uremic Syndrome (HUS), atypical Hemolytic Uremic Syndrome (aHUS), and Thrombotic Thrombocytopenic Syndrome (TTP).
Atypical hemolytic uremic syndrome (aHUS) is similar to thrombotic thrombocytopenic Purpura (TTP).
Typical Hemolytic Uremic Syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure.
Thrombotic thrombocytopenic purpura (TTP) is a pentad of microangiopathic hemolytic anemia, thrombocytopenia, acute renal failure, fever, and neurological abnormalities.
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Bernard-Soulier Syndrome (BSS) is an autosomal recessive (AR) disorder characterized by a defective GP1b platelet receptor leading to a problematic platelet adhesion process (primary hemostasis).
Glanzmann Thrombasthenia (GT) is an autosomal recessive defect in the GPIIb/IIIa (GP2b/3a) receptor on the platelet which leads to defective platelet aggregation.
Ristocetin Cofactor Assay (RIPA) is usually abnormal in cases of Bernard-Soulier Syndrome (BSS).
Bleeding time is prolonged, platelets are big in size, but few in number (Macrothrombocytopenia).
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Platelet count is one of the lab tests used by a doctor or a hematologist to assess whether your platelet number is normal, low (thrombocytopenia) or high (thrombocytosis).
Bleeding 🩸 time (BT) is another test for platelet function.
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Great video. Thanks! I have VWD Type 2M with severe symptoms. The standard of care for this type is Humate-P as this type is only variably responsive to DDAVP. I even keep Humate-P at home and take it with me when I travel because hospitals don't always have it on hand.
Surgeries are particularly difficult because DDAVP requires a strict fluid intake which is often impossible to adhere to when you have to get IV fluids and/or blood transfusions during and after the procedure. Everyone who has VWD should work closely with a benign hematologist who specializes in bleeding disorders because surgeons and anesthesiologists often don't understand the nuances and you need to have a plan going into the surgery. Oncologist/hematologists are often focused on cancer and they don't have a lot of experience with the VWD subtypes.
Also, fun fact... type 2M gets misdiagnosed more often as Type 1 than it gets correctly diagnosed as Type 2M. This type doesn't necessarily have missing multimers, just abnormal ones. There is a large variabilty in bleeding patterns and laboratory phenotypes. Genetic testing can help.
I'm still a med student but I thoroughly enjoyed this video.
You made it so easy, thank you
Glad it was helpful!
I'm not a med student but I have type 2b and I love learning about my condition
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Thank you!❤❤,,,,,best explanation of subtypes,,,,,most abundant platelet surface receptor is Gp2b/3a complex(40,000-90,000 copies per cell with an additional pool that can be recruited by agonist-induced platelet activation) and qualitative or quantitative deficiency of it leads to a coagulopathy named glanzmann's thrombasthenia,,,,,,,
Thank you so much for your kind words!
You’re absolutely correct
Nice video! Just one correction: Type 2N is also autosomal recessive. Carriers do not have symptoms
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12:26 subtypes ❤️
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Really exellent vedio .... bleeding disorders were always a nightmare for me... not any more
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U made it all so easy! Thank u 💌
just one request, can u please explain the vwf:Rco/vwf:Ag ratio a bit more please? Why its increased in type 1 and type 2N and decreased in type 2A , 2B, 2M? thanks!
Just divide vWf: Rco by vWF: Ag, and you get the answer.
There is no scientific explanation here, it's just a mathematical ratio
Medicosis Perfectionalis thanku ! Didnt notice it before ☺
I and most of my family have type 2N. Our doctors have us use Wilate, not Desmopressin.
Hi my family history all members have Von Willebrand disease factor 8. We can take Covid-19 vaccine or not.lot of confusion please help me
the most abundant receptor on the surface of PLT is Gp2b/3a receptor
Thanks prof! Really enjoyed the video.
Thank you so much 😊
On the type 2N, why did you not mention about the effect of abnormal vwf on platelet adhesion?
How about if you VWB factor is super high (over 500) and factor VIII is normal. Which type would that be?
Thanks alooooooooooot
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2N is autosomal recessive
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Coming soon
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My pleasure 😇
i have been diagnosed with VWD type 3 it is very severe and need to get humate p infusions for the 7-10 days I get my menstrual cycle. My parents have had genetic testing and only my mother has the gene for VWD. My dad does not. My question is, don’t both parents need to pass this in order for their child to have VWD type 3? How does it work? Thank you!
You are the best!
Thank you so much 😊
But since type 1 is a quantitative defect, why will there be decrease in vwf activity, should it be only in antigen?
Why would you have low factor eight and factor seven lacking in vWD, I always end up having to get plasma & blood transitions??? What happens when you can't have DDAVP
please make videos on cancers of all the systems!
I have Von Willebrand’s disease type 3.
I am so sorry 😐
@@MedicosisPerfectionalis Thanks, so much but it’s not your fault. I don’t get bleeds too often so I’m fine. I did get injections everyday after surgery.
Plz Send me your mobile no I have type 2
Which tests should be done to distinguish vWD 2b from pseudo vWD?
amazing sir!thank you👏💖
My pleasure 😇
What's is the answer
Why does it say to give desmopressin with type three???
This is stated in the table. It is wrong and should be corrected. Does repression should never be given in type three.
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2M has normal multimers
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