Guideline for Laboratory Diagnosis and Monitoring of von Willebrand Disease: A Joint Guideline from the United Kingdom Haemophilia Centre Doctors&Apos; Organisation and The British Society for Haematology

Authors: Platton, S; Baker, P; Bowyer, A; Keenan, C; Lawrence, C; Lester, W; Riddell, A; Sutherland, M

Affiliations: Nuffield Orthopaed Hosp, Oxford Haemophilia & Thrombosis Ctr, Oxford, England. Royal Hallamshire Hosp, Dept Coagulat, Sheffield, England. St James Hosp, Dept Haematol, Dublin, Ireland. St James Hosp, Natl Coagulat Ctr, Dublin, Ireland. Glasgow Royal Infirm, Dept Haematol, Glasgow, Scotland. Univ Hosp, Haemophilia Unit, Birmingham, England. Royal Free Hosp, Katharine Dormandy Haemophilia Ctr, London, England. Manchester Univ NHS Fdn Trust, Northwest Genom Lab Hub, Manchester, England. British Soc Haematol, 100 White Lion St, London N1 9PF, England. British

Publication: Journal of Haematology; 2024

Abstract: SUMMARY This guideline updates the previous guidelines published on behalf of the British Society for Haematology (BSH) and the United Kingdom Haemophilia Centre Doctors’ Organization (UKHCDO), focusing on the laboratory components of diagnosis and monitoring. Clinical aspects will be addressed in a separate guideline. METHODOLOGY This guideline was compiled according to the BSH process at https:// b-s-h.org. uk/ media/ 16732/ bsh-guidance-development-process-dec-5-18.pdf. The writing group, which comprised selected members of the BSH Haemostasis and Thrombosis Task Force (BSH HTTF), the UKHCDO Laboratory Working Party (LWP) and members of the UKHCDO Genetics Laboratory Network (GLN), produced the first draft of the manuscript. A literature search was carried out using the terms given in Table S1. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) nomenclature was used to evaluate the levels of evidence and to assess the strength of recommendations. The GRADE criteria can be found at http:// www. gradeworkinggroup. org and is summarized in appendix 3 of the guidance document linked above. REVIEW OF THE MANUSCRIPT Review of the manuscript was performed by the BSH HTTF, the BSH Guidelines Committee and the sounding board of BSH. It was circulated to members of the UKHCDO LWP and GLN and was on the members section of the BSH website for comment. GUIDELINE UPDATE This guideline describes laboratory tests used to diagnose and monitor individuals with von Willebrand disease (VWD). Since the publication of the previous guideline, new functional tests have become widely available as an alternative to the ristocetin cofactor assay. This guideline also updates genetic testing rationale and highlights the American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation of sequence variants, and Association for Clinical Genomic Science (ACGS) guidelines for variant interpretation.