Potential misdiagnosis of von Willebrand disease and haemophilia caused by ineffective mixing of thawed plasma

Autor: Soma Mohammed, E. Grzechnik, Gabriel Lima-Oliveira, Emmanuel J. Favaloro, S. Azimulla, Susan Oliver, Giuseppe Lippi, Monica Ahuja, Jane McDonald
Rok vydání: 2017
Předmět:
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
VWD
VWF
haemophilia
preanalytical error
sample mixing
von Willebrand disease
von Willebrand factor
030204 cardiovascular system & hematology
Haemophilia
Hemophilia A
Laboratory testing
Gastroenterology
Specimen Handling
03 medical and health sciences
0302 clinical medicine
Von Willebrand factor
hemic and lymphatic diseases
Internal medicine
von Willebrand Factor
medicine
Von Willebrand disease
Humans
Prospective Studies
Diagnostic Errors
Genetics (clinical)
Retrospective Studies
Clotting factor
Factor VIII
Plasma samples
biology
business.industry
Hematology
General Medicine
medicine.disease
Blood Coagulation Factors
Sample quality
von Willebrand Diseases
030220 oncology & carcinogenesis
Immunology
biology.protein
Blood Coagulation Tests
business
Zdroj: Haemophilia : the official journal of the World Federation of Hemophilia. 23(5)
ISSN: 1365-2516
Popis: Introduction von Willebrand disease (VWD) reflects a loss or dysfunction in von Willebrand factor (VWF), while haemophilia represents a loss or dysfunction of clotting factors such as factor VIII (FVIII) or FIX. Their diagnosis requires laboratory testing, with this potentially compromised by preanalytical events, including poor sample quality. This study assessed the effect of inadequate mixing as a potential cause of VWD and haemophilia misdiagnosis. Methods After completion of requested testing, 48 consecutive patient samples comprising separate aliquots from single collections were individually pooled, appropriately mixed, then frozen in separate aliquots, either at −20°C or −80°C for 2-7 days. Each sample set was then thawed and the separate aliquots subjected to separate mixing protocols (several inversions, blood roller, vortex) vs a non-mix sample, and all aliquots then tested for various VWF and factor assays. Results Non-mixing led to substantial reduction in VWF and factors in about 25% of samples, that in some cases could lead to misdiagnosis of VWD or haemophilia. Interestingly, there were also some differences observed with respect to different mixing protocols. Conclusions Our study identified ineffective or variable mixing of thawed plasma samples as potential causes of misdiagnosis of VWD or haemophilia. Further education regarding the importance of appropriate mixing appears warranted.
Databáze: OpenAIRE
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