Development of an Early and Complete Examination Protocol for Women and Girls with Inherited Bleeding Disorders (WGBD)

Women and girls with bleeding disorders (WGBD) share the same bleeding symptoms and limitations in quality of life (QoL) as men, but they also confront unique physical and psychological challenges.¹

Physically, WGBD experience joint problems, heavy menstrual bleeding (HMB), postpartum haemorrhage, excessive postoperative bleeding, epistaxis, easy bruising, and oral bleeding, also in haemophilia carriers with factor levels ≥ 40 IU/ml.²

Psychologically, they grapple with feelings of shame regarding HMB and guilt about bearing children with haemophilia.³These challenges can severely diminish QoL, yet they remain underappreciated.⁴

The primary physiological challenge lies in joint problems.⁵ WGBD, including haemophilia carriers, are at risk for subclinical joint bleeding, necessitating early detection.⁶ Inflammation can cause joint dysfunction before structural damage occurs, leading to pain, altered movement, and muscle degeneration, which destabilizes joints further and exacerbates pain.⁷

Early identification of joint issues is therefore crucial. Although ultrasound can detect joint problems, it is limited to recognizing clinical synovitis, a sign of already advanced joint problems.⁸

This creates two main barriers to comprehensive diagnosis and early treatment of WGBD: a) incompleteness, as diagnoses have previously concentrated on physiological aspects alone, and b) lateness, due to the absence of tools to identify joint changes before synovitis becomes clinically evident. Consequently, many with WGBD remain undiagnosed and untreated.

To address these barriers, we are creating a comprehensive assessment protocol for WGBD, evaluating all bleeding symptoms and their QoL impact. This protocol integrates new tools with existing diagnostic tools such as the Pictorial Blood Loss Assessment Chart (PBAC), Haemophilia Joint Health Score, ISTH Bleeding Score, and Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US).

The first new tool is a psychometric QoL questionnaire for WGBD, developed collaboratively with patients and health professionals based on established scientific questionnaire methodologies.

The second tool is the Noraxon system, which employs validated sensing methods, including inertial measurement units (IMUs), electromyography (EMG), and paedobarography. This system is highly regarded in biomechanical research, with over 400 peer-reviewed publications supporting its efficacy. A 2018 literature review highlighted 11 studies on biomechanical analysis in paediatric and adult patients with hemophilia, showing significant correlations with functional tests, ultrasounds, and MRI scans.

Interim test results are already available and show promising results for a smaller sample size of 26 women. Once our new psychometric questionnaire is validated, we will correlate its results with the other assessment toosl, test the whole protocol on a larger sample size and publish the results for peer review.