Von Willebrand disease diagnostic study of choice: Difference between revisions
(Created page with "__NOTOC__ {{Von Willebrand disease}} {{CMG}}; {{AE}} == Overview == == Diagnostic Study of Choice == === Study of choice === [Name of the investigation] is the gold standard...") |
Shyam Patel (talk | contribs) |
||
(6 intermediate revisions by 2 users not shown) | |||
Line 1: | Line 1: | ||
__NOTOC__ | __NOTOC__ | ||
{{Von Willebrand disease}} | {{Von Willebrand disease}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{N.F}} | ||
== Overview == | == Overview == | ||
There is no single diagnostic study of choice for the diagnosis of von Willebrand disease, but von Willebrand disease can be diagnosed based on [[Screening test|screening tests]] followed by confirmatory tests. The [[Screening test|screening tests]] for VWD that are selected by the National Heart, Lung, and Blood Institute include testing for vWF antigen, VWF [[Ristocetin|ristocetin cofactor activity]] and [[factor VIII]] clotting activity. When one of the VWD [[screening test]] is abnormal, further confirmatory tests are performed to establish the correct diagnosis and determine the type of VWD. Genotyping is most beneficial for type 1 patients with vWF ≤30 IU/dL and those with type 2 or 3. Genotyping also detects a benign type of vWD (caused by the D1472H mutation which affects ristocetin binding but not vWF function). | |||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
=== Study of choice === | === Study of choice === | ||
There is no single diagnostic study of choice for the diagnosis of von Willebrand disease, but von Willebrand disease can be diagnosed based on screening tests followed by confirmatory tests. | |||
The following [[screening test]]<nowiki/>s for VWD are selected by the National Heart, Lung, and Blood Institute<ref name="pmid25976955">{{cite journal |vauthors=Roberts JC, Flood VH |title=Laboratory diagnosis of von Willebrand disease |journal=Int J Lab Hematol |volume=37 Suppl 1 |issue= |pages=11–7 |date=May 2015 |pmid=25976955 |pmc=5600156 |doi=10.1111/ijlh.12345 |url=}}</ref> | |||
* '''VWD screening tests''' | |||
** (VWF:Ag) [[Von Willebrand factor|VWF antigen]] | |||
** (VWF:RCo) VWF ristocetin cofactor activity | |||
** (FVIII:C) [[factor VIII]] clotting activity | |||
When one of the VWD screening test is abnormal, the following tests should be performed to establish the correct diagnosis and determine the type of VWD.<ref name="pmid25976955" /> | |||
* [ | * '''VWD Confirmatory Tests''' | ||
* [ | ** [[Multimeric protein|VWF multimer]] distribution | ||
** (VWF:CB) VWF [[collagen]] binding | |||
** (VWF:PB) VWF [[platelet]] binding | |||
** (LD-RIPA) low-dose [[ristocetin]]-induced [[platelet aggregation]] | |||
** (VWF) FVIIIB | |||
** VWF [[gene]] sequencing | |||
===== Diagnostic results ===== | |||
The following findings on performing VWD tests are confirmatory for von willebrand disease | |||
{| class="wikitable" | |||
* | | colspan="2" rowspan="1" |'''VWD Screening Tests''' | ||
* | |- | ||
| colspan="1" rowspan="1" | VWF:Ag | |||
| colspan="1" rowspan="1" | | |||
* ↓ in type 1, | |||
* ↓ most type 2 | |||
* Undetectable in type 3 | |||
|- | |||
| colspan="1" rowspan="1" | VWF:RCo | |||
| colspan="1" rowspan="1" | | |||
* ↓ in type 1 | |||
* ↓↓ most type 2 | |||
* Undetectable in type 3 | |||
|- | |||
| colspan="1" rowspan="1" | FVIII:C | |||
| colspan="1" rowspan="1" | | |||
* ↓ or normal in type 1 | |||
* ↓ most type 2 | |||
* ↓↓ in type 2N and type 3 | |||
|- | |||
| colspan="1" rowspan="1" | VWF:RCo/VWF:Ag ratio | |||
| colspan="1" rowspan="1" | | |||
* ↓ in type 2A, 2B, 2M | |||
|- | |||
| colspan="2" rowspan="1" |'''VWD Confirmatory Tests''' | |||
|- | |||
| colspan="1" rowspan="1" | VWF multimer distribution | |||
| colspan="1" rowspan="1" |Abnormal in type 2A and type 2B | |||
|- | |||
| colspan="1" rowspan="1" | VWF:CB | |||
==== | | colspan="1" rowspan="1" |Abnormal in type 2A and type 2B, some type 2M | ||
|- | |||
| | | colspan="1" rowspan="1" | VWF:PB | ||
| colspan="1" rowspan="1" |↑ in type 2B | |||
|- | |||
| colspan="1" rowspan="1" | LD-RIPA | |||
| colspan="1" rowspan="1" |↑ in type 2B and platelet-type VWD | |||
|- | |||
| colspan="1" rowspan="1" | VWF:FVIIIB | |||
| colspan="1" rowspan="1" |↓ in type 2N | |||
|- | |- | ||
| colspan="1" rowspan="1" | VWFpp | |||
| | | colspan="1" rowspan="1" |↑ VWFpp/VWF:Ag ratio in type 1C | ||
|- | |- | ||
| colspan="1" rowspan="1" | VWF gene sequencing | |||
| | | colspan="1" rowspan="1" |Most helpful in type 2 variants | ||
|} | |} | ||
VWF:Ag VWF antigen; VWF:RCo VWF ristocetin cofactor activity; FVIII:C factor 8 activity; VWF:CB VWF collagen binding LD-RIPA low-dose ristocetin-induced platelet aggregation; VWFpp VWF propeptide; | |||
===== Sequence of Diagnostic Studies ===== | ===== Sequence of Diagnostic Studies ===== | ||
The [ | The [[prothrombin time]] (PT), [[Partial thromboplastin time|activated partial thromboplastin time]] (aPTT), [[platelet count]], [[Factor VIII]] activity, [[Ristocetin|ristocetin cofactor]] (RCoF) activity concentration of [[vWF antigen]] (vWF:Ag) must be performed when: | ||
* The patient presented with | * The patient presented with eas[[Bruising|y bruising]], skin bleeding, prolonged [[oropharyngeal]], [[Gastrointestinal tract|gastrointestinal]], [[uterine]] bleeding, prolonged bleeding after [[trauma]] or surgical procedure. | ||
* | * If the initial tests are positive then the above mentioned confirmatory tests should be performed. | ||
* Genotyping is most beneficial for type 1 patients with vWF ≤30 IU/dL and those with type 2 or 3. | |||
* Genotyping also detects a benign type of vWD (caused by the D1472H mutation which affects ristocetin binding but not vWF function). | |||
* | |||
* | |||
=== Name of Diagnostic Criteria === | === Name of Diagnostic Criteria === | ||
Von Willebrand disease may be diagnosed at any time if one or more of the following criteria are met:<ref name="pmid18816699">{{cite journal |vauthors=Hyatt SA, Wang W, Kerlin BA, O'Brien SH |title=Applying diagnostic criteria for type 1 von Willebrand disease to a pediatric population |journal=Pediatr Blood Cancer |volume=52 |issue=1 |pages=102–7 |date=January 2009 |pmid=18816699 |doi=10.1002/pbc.21755 |url=}}</ref> | |||
* Positive family history | |||
* Prominent [[Mucocutaneous|mucocutaneous bleeding]] history | |||
* Abnormal laboratory tests | |||
==References== | ==References== |
Latest revision as of 23:09, 20 December 2018
Von Willebrand disease Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Von Willebrand disease diagnostic study of choice On the Web |
American Roentgen Ray Society Images of Von Willebrand disease diagnostic study of choice |
Von Willebrand disease diagnostic study of choice in the news |
Risk calculators and risk factors for Von Willebrand disease diagnostic study of choice |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
There is no single diagnostic study of choice for the diagnosis of von Willebrand disease, but von Willebrand disease can be diagnosed based on screening tests followed by confirmatory tests. The screening tests for VWD that are selected by the National Heart, Lung, and Blood Institute include testing for vWF antigen, VWF ristocetin cofactor activity and factor VIII clotting activity. When one of the VWD screening test is abnormal, further confirmatory tests are performed to establish the correct diagnosis and determine the type of VWD. Genotyping is most beneficial for type 1 patients with vWF ≤30 IU/dL and those with type 2 or 3. Genotyping also detects a benign type of vWD (caused by the D1472H mutation which affects ristocetin binding but not vWF function).
Diagnostic Study of Choice
Study of choice
There is no single diagnostic study of choice for the diagnosis of von Willebrand disease, but von Willebrand disease can be diagnosed based on screening tests followed by confirmatory tests.
The following screening tests for VWD are selected by the National Heart, Lung, and Blood Institute[1]
- VWD screening tests
- (VWF:Ag) VWF antigen
- (VWF:RCo) VWF ristocetin cofactor activity
- (FVIII:C) factor VIII clotting activity
When one of the VWD screening test is abnormal, the following tests should be performed to establish the correct diagnosis and determine the type of VWD.[1]
- VWD Confirmatory Tests
- VWF multimer distribution
- (VWF:CB) VWF collagen binding
- (VWF:PB) VWF platelet binding
- (LD-RIPA) low-dose ristocetin-induced platelet aggregation
- (VWF) FVIIIB
- VWF gene sequencing
Diagnostic results
The following findings on performing VWD tests are confirmatory for von willebrand disease
VWD Screening Tests | |
VWF:Ag |
|
VWF:RCo |
|
FVIII:C |
|
VWF:RCo/VWF:Ag ratio |
|
VWD Confirmatory Tests | |
VWF multimer distribution | Abnormal in type 2A and type 2B |
VWF:CB | Abnormal in type 2A and type 2B, some type 2M |
VWF:PB | ↑ in type 2B |
LD-RIPA | ↑ in type 2B and platelet-type VWD |
VWF:FVIIIB | ↓ in type 2N |
VWFpp | ↑ VWFpp/VWF:Ag ratio in type 1C |
VWF gene sequencing | Most helpful in type 2 variants |
VWF:Ag VWF antigen; VWF:RCo VWF ristocetin cofactor activity; FVIII:C factor 8 activity; VWF:CB VWF collagen binding LD-RIPA low-dose ristocetin-induced platelet aggregation; VWFpp VWF propeptide;
Sequence of Diagnostic Studies
The prothrombin time (PT), activated partial thromboplastin time (aPTT), platelet count, Factor VIII activity, ristocetin cofactor (RCoF) activity concentration of vWF antigen (vWF:Ag) must be performed when:
- The patient presented with easy bruising, skin bleeding, prolonged oropharyngeal, gastrointestinal, uterine bleeding, prolonged bleeding after trauma or surgical procedure.
- If the initial tests are positive then the above mentioned confirmatory tests should be performed.
- Genotyping is most beneficial for type 1 patients with vWF ≤30 IU/dL and those with type 2 or 3.
- Genotyping also detects a benign type of vWD (caused by the D1472H mutation which affects ristocetin binding but not vWF function).
Name of Diagnostic Criteria
Von Willebrand disease may be diagnosed at any time if one or more of the following criteria are met:[2]
- Positive family history
- Prominent mucocutaneous bleeding history
- Abnormal laboratory tests
References
- ↑ 1.0 1.1 Roberts JC, Flood VH (May 2015). "Laboratory diagnosis of von Willebrand disease". Int J Lab Hematol. 37 Suppl 1: 11–7. doi:10.1111/ijlh.12345. PMC 5600156. PMID 25976955.
- ↑ Hyatt SA, Wang W, Kerlin BA, O'Brien SH (January 2009). "Applying diagnostic criteria for type 1 von Willebrand disease to a pediatric population". Pediatr Blood Cancer. 52 (1): 102–7. doi:10.1002/pbc.21755. PMID 18816699.