Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.
J Thromb Haemost
; 12(9): 1562-9, 2014 Sep.
Article
in En
| MEDLINE
| ID: mdl-24976115
ABSTRACT
BACKGROUND:
Diagnosis of inherited platelet function disorders (IPFDs) is important for appropriate management and to improve epidemiologic and clinical knowledge. However, there remains a lack of consensus on the diagnostic approach.OBJECTIVES:
To gain knowledge on the current practices for the diagnosis of IPFD worldwide.METHODS:
A 67-item questionnaire was distributed to the ISTH members and to the members of several national hemostasis and thrombosis societies.RESULTS:
A total of 202 laboratories from 37 countries participated in the survey. The most frequent criterion to define patients with a suspected IPFD was a history of mucocutaneous bleeding and no acquired cause, but heterogeneity on the identification criteria was evident. Only 64.5% of respondents performed a direct clinical interview. On average, each laboratory studied 72 patients per year. The most commonly used laboratory equipment were the light-transmission aggregometer, the Platelet Function Analyzer-100, and the flow cytometer. Screening tests were platelet count, peripheral blood smear, light-transmission aggregometry, and Platelet Function Analyzer-100. Second-step tests were flow cytometry, molecular genetic analysis, and electron microscopy. Methodologies varied widely. In total, ~ 14,000 patients were investigated yearly and 60% turned out to not have a defect. Of the remaining 40%, only 8.7% received a diagnosis at a molecular level.CONCLUSIONS:
Many laboratories worldwide are involved in the diagnosis of IPFD. A large fraction of the patients studied remain without a diagnosis. A high variability in the diagnostic approaches is evident.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Platelet Function Tests
/
Blood Platelet Disorders
/
Platelet Aggregation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
J Thromb Haemost
Year:
2014
Document type:
Article