A quick rundown of von Willebrand disease:
➡️most common inherited bleeding disorder (1 in 1000).
➡️AD inheritance (AR for types 2N and 3)
➡️mucocutaneous bleeding, varying severity.
Types:
➡️Quantitative deficiency: types 1 & 3
➡️Qualitative defect: type 2
Here it goes🧵 1/
➡️most common inherited bleeding disorder (1 in 1000).
➡️AD inheritance (AR for types 2N and 3)
➡️mucocutaneous bleeding, varying severity.
Types:
➡️Quantitative deficiency: types 1 & 3
➡️Qualitative defect: type 2
Here it goes🧵 1/
VWD type 1:
➡️ Partial deficiency
➡️ Bleeding symptoms + family history of bleeding (AD inheritance)
➡️Labs:
-VWF:RCo: < 30
-VWF:Ag: < 30
-Ratio: > 0.6
-FVIII: low to normal
-Multimers: normal
-RIPA: normal
2/
➡️ Partial deficiency
➡️ Bleeding symptoms + family history of bleeding (AD inheritance)
➡️Labs:
-VWF:RCo: < 30
-VWF:Ag: < 30
-Ratio: > 0.6
-FVIII: low to normal
-Multimers: normal
-RIPA: normal
2/
VWD Type 2A:
➡️Increased susceptibility to ADAMTS13 --> loss of high and intermediate weight multimers
➡️ Labs:
-VWF:RCo: < 30
-VWF:Ag: 30 - 200
-Ratio: < 0.6
-FVIII: low to normal
-Multimers: ⬇️ high molecular weight multimers
-RIPA: ⬇️
3/
➡️Increased susceptibility to ADAMTS13 --> loss of high and intermediate weight multimers
➡️ Labs:
-VWF:RCo: < 30
-VWF:Ag: 30 - 200
-Ratio: < 0.6
-FVIII: low to normal
-Multimers: ⬇️ high molecular weight multimers
-RIPA: ⬇️
3/
VWD type 2B:
➡️Gain of function mutation --> increased affinity for GP1b --> increased platelet binding --> mild thrombocytopenia and clearance of HMWMs
➡️labs
VWF:RCo: < 30
VWF:Ag: 30-200
Ratio: < 0.6
FVIII: low to normal
HMWM: ⬇️
RIPA: ⬆️
4/
➡️Gain of function mutation --> increased affinity for GP1b --> increased platelet binding --> mild thrombocytopenia and clearance of HMWMs
➡️labs
VWF:RCo: < 30
VWF:Ag: 30-200
Ratio: < 0.6
FVIII: low to normal
HMWM: ⬇️
RIPA: ⬆️
4/
VWD type 2M
➡️loss of function mutation --> decreased interaction with platelets
➡️labs:
VWF:RCo: < 30
VWF:Ag: 30-200
Ratio: < 0.6
FVIII: low to normal
HMWMs: normal
RIPA: ⬇️
5/
➡️loss of function mutation --> decreased interaction with platelets
➡️labs:
VWF:RCo: < 30
VWF:Ag: 30-200
Ratio: < 0.6
FVIII: low to normal
HMWMs: normal
RIPA: ⬇️
5/
VWD type 2N:
➡️ Reduced binding to FVIII --> increased clearance.
➡️AR inheritance
➡️Labs:
VWF:RCo: 30-200
VWF:Ag: 30-200
Ratio: >0.6
FVIII: ⬇️⬇️
HMWMs: normal
RIPA: normal
6/
➡️ Reduced binding to FVIII --> increased clearance.
➡️AR inheritance
➡️Labs:
VWF:RCo: 30-200
VWF:Ag: 30-200
Ratio: >0.6
FVIII: ⬇️⬇️
HMWMs: normal
RIPA: normal
6/
VWD type 3:
➡️Complete deficiency
➡️Bleeding might resemble hemophilia (mucocutaneous + deep joint) because of very low FVIII levels
➡️Labs:
VWF:RCo: < 5
VWF:Ag: < 5
Ratio: N/A
FVIII: ⬇️⬇️⬇️⬇️
HMWMs: absent
RIPA: absent
EOT: 7/7
➡️Complete deficiency
➡️Bleeding might resemble hemophilia (mucocutaneous + deep joint) because of very low FVIII levels
➡️Labs:
VWF:RCo: < 5
VWF:Ag: < 5
Ratio: N/A
FVIII: ⬇️⬇️⬇️⬇️
HMWMs: absent
RIPA: absent
EOT: 7/7
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