Hemophilia is a rare disease and its management is multi-faceted. With advances in medical care including prophylactic factor replacement, the need for outcome assessment tools that are valid, reliable, sensitive to change, and predictive has become increasingly apparent. Physical status (joint health), functional ability, bleeding symptoms, and quality of life can now be measured using standardized tools. Ultrasound and MRI scores are also under development.
Many of these tools have been developed by working groups comprised of international experts, and have been tested in a variety of settings.
The purpose of this compendium is to provide hemophilia caregivers and researchers with an evaluation of new and existing assessment tools suitable for use in hemophilia. Adequate use of these tools will ultimately facilitate research and inform best practice.
Joints are among the most common sites of bleeding in patients with hemophilia. If inadequately treated, repeated bleeding will lead to progressive deterioration of the joints and muscles, severe loss of function due to loss of motion, muscle atrophy, pain, joint deformity, and contractures. Several hemophilia-specific scores are available to measure joint impairment and function, including activities and participation.
These scores can be used:
Working Group: Karen Beeton, Brian Feldman, Kathy Mulder, Pradeep Poonnoose, Janjaap Van der Net, and Nancy Young.
The laboratory diagnosis of mild and/or rare bleeding disorders is challenging. Due to the lack of clear inheritance for many of these disorders, there is strong reliance on bleeding histories, which are largely subjective.
There is great value in standardized quantitative scores for bleeding symptoms. In particular, they can be used:
Over the years, a number of tools have been developed to assist in the diagnosis of bleeding disorders, some general and some symptom-specific. This compendium provides evaluations of the tools most useful in current practice.
Working Group: Christoph Bidlingmaier, Magdy El Ekiaby, Joan Gill, Paula James (Chair), Sarah O’Brien, Roberta Palla, Flora Peyvandi, Margaret Rand, Christine Sabapathy, and Alok Srivastava.
The WFH Bleeding Assessment Tools Working Group also evaluated a number of other scores, click here for a short description of each of these.
World Federation of Hemophilia Physical Examination Score (also called the Gilbert Score) Authors/developersGilbert M, and the Orthopedic Advisory Committee of
Paediatric Haemophilia Activities List (PedHAL) v0.11 Authors/developersGroen W, Van der Net J, Helders P, Fischer K. Questionnaire – children’s version