Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high-risk population

Autor:	Claire S. Philipp, Amanda Kaveney, Shuang Guo, Ambarina S. Faiz, S. Murphy
Rok vydání:	2017
Předmět:	Adult medicine.medical_specialty Adolescent Population Primary care 030204 cardiovascular system & hematology Sensitivity and Specificity Young Adult 03 medical and health sciences Sex Factors 0302 clinical medicine Von Willebrand factor hemic and lymphatic diseases Internal medicine von Willebrand Factor medicine Von Willebrand disease Humans Mass Screening Family Screening tool Family history education Genetics (clinical) education.field_of_study 030219 obstetrics & reproductive medicine biology business.industry Reproducibility of Results Hematology General Medicine Middle Aged medicine.disease Ferritin von Willebrand Diseases Cross-Sectional Studies Case-Control Studies Population Surveillance biology.protein Female Blood Coagulation Tests business Major bleeding
Zdroj:	Haemophilia. 23:736-742
ISSN:	1351-8216
DOI:	10.1111/hae.13188
Popis:	INTRODUCTION Family members of Von Willebrand disease (VWD) patients may have low levels of VWF without major bleeding episodes and often remain undiagnosed. AIM The purpose of this study was to assess the utility of a modified Screening Tool in identifying previously untested reproductive age female family members of VWD patients for haemostatic evaluation. METHODS Ninety-four reproductive age women including 41 previously untested family members of VWD patients, 26 previously diagnosed VWD patients and 27 healthy controls were administered a modified Screening Tool and had blood drawn for CBC, ferritin, and VWF testing. Participants completed a pictorial blood assessment chart (PBAC) with menses. RESULTS The modified Screening Tool was positive in 32% family members, 77% VWD patients, and 19% controls (P < 0.001). Combined with low ferritin, the modified Screening Tool was positive in 66% family members, 92% VWD patients, and 44% controls (P = 0.001). In family members, incorporating low ferritin with the modified Screening Tool resulted in a sensitivity of 86% (95% CI, 42-100) and negative predictive value of 93% (95% CI, 66-100). In the control group, NPV was between 92% and 95% for the modified Screening Tool and also for the modified Screening Tool combined with low ferritin or a positive PBAC. CONCLUSION These data in a racially diverse population suggest the usefulness of a simple, easy to administer modified Screening Tool. In conjunction with ferritin it could be used in a primary care setting to stratify reproductive age women with a family history of VWD for haemostatic evaluation.
Databáze:	OpenAIRE
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