Von Willebrand disease diagnostic study of choice: Difference between revisions
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=== 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<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) VWF antigen | |||
** (VWF:RCo) VWF ristocetin cofactor activity | |||
** (FVIII:C) factor 8 clotting activity | |||
When one of the VWD screening test is abnormal, the following tests should be performed.<ref name="pmid25976955" /> | |||
* | * '''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 | |||
** (VWFpp) VWF propeptide | |||
** 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 ===== |
Revision as of 15:07, 31 August 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
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 8 clotting activity
When one of the VWD screening test is abnormal, the following tests should be performed.[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
- (VWFpp) VWF propeptide
- 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 [name of investigation] must be performed when:
- The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
- A positive [test] is detected in the patient, to confirm the diagnosis.
OR
The various investigations must be performed in the following order:
- [Initial investigation]
- [2nd investigation]
Name of Diagnostic Criteria
It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
OR
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
OR
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
- Criteria 1
- Criteria 2
- Criteria 3
OR
IF there are clear, established diagnostic criteria
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
OR
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
OR
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
OR
IF there are no established diagnostic criteria
There are no established criteria for the diagnosis of [disease name].
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.