Identifying Mental Health Needs in Extremely Rare Inherited Bleeding Disorders (ERBD): A Narrative Review

Amy Owen-Wyard; Stacey Mcgeown; Emma Hallard; Helen Tate

doi:10.17225/bdcp-2026-0004

Abstract

Background:
Extremely Rare inherited Bleeding Disorders (ERBD) each affect fewer than 1 in 1,000,000 individuals but collectively represent a meaningful population requiring lifelong, multidisciplinary management. Despite the significant physical morbidity associated with factor deficiencies and platelet function disorders, the psychological burden of ERBD is poorly characterised. Diagnostic delays, limited treatment options, and structural and interpersonal stigma contribute to substantial mental health challenges for patients and families.

Aim:
To synthesise existing evidence on the psychological and psychosocial impacts of ERBD, identify gaps in mental health provision, and outline implications for clinical practice and policy.

Methods:
A narrative review was conducted incorporating peer‑reviewed literature, health statistics, patient advocacy reports, and clinical guidelines published up to November 2025. Due to limited ERBD specific data, evidence from broader rare disease research was integrated to contextualise psychosocial outcomes.

Results:
People with ERBD can experience high rates of anxiety, depression, low self‑esteem, trauma, and social isolation. Recurrent bleeding, chronic pain, and prolonged diagnostic pathways compound psychological distress. Routine mental health screening is uncommon, and integrated psychosocial support is largely absent from ERBD care pathways. These gaps contribute to treatment non‑adherence, emergency care use, functional impairment, and caregiver burden, with disproportionate impact on women, children, and adolescents.

Conclusion:
Mental health is an under‑recognised yet critical component of ERBD management. Strengthening multidisciplinary models, embedding psychological assessment into routine care, addressing stigma, and expanding research are essential to improving outcomes and ensuring equitable, person‑centred care.

Plain Language Summary

Extremely rare inherited bleeding disorders are lifelong conditions in which the blood does not clot normally. They include shortages of particular clotting proteins and disorders affecting platelets, the blood cells that help stop bleeding. People may experience frequent bruising or nosebleeds, heavy periods, painful joint or muscle bleeds, or serious internal bleeding. Because each condition affects very few people, diagnosis can take years, specialist knowledge may be limited, and someone may never meet another person with the same disorder.

This review was needed because care and research in extremely rare bleeding disorders have mainly focused on controlling bleeding, while the emotional and social effects have received much less attention. The authors brought together published studies, health statistics, guidance and patient-organisation reports. They asked how these disorders affect mental health and everyday life, how delayed diagnosis and stigma add to the burden, what happens when support is missing, and how care could be improved.

The evidence showed that repeated bleeding, pain, uncertainty and limited treatment options can disrupt education, work, relationships and social activities. Anxiety, depression, low self-esteem and isolation were commonly reported, and caring responsibilities also affected families. In one study of Glanzmann thrombasthenia, 30% of participants met criteria for depression and 26% had low self-esteem. More frequent or severe bleeding was linked with poorer quality of life. However, routine mental health checks were uncommon, studies used different measures, and very little research examined these disorders specifically. The available studies were also generally small and could not show how wellbeing changes over time.

These findings matter because good care for extremely rare bleeding disorders should address emotional wellbeing as well as bleeding. Earlier diagnosis, regular mental health screening, access to trained professionals, peer support and better support for caregivers could reduce distress and help people manage treatment and daily life. More long-term, patient-led research is needed so that services reflect the real needs of people living with these rare disorders.

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Authors

Amy Owen-Wyard

amy@epalimited.com

EquiPath Analytics Limited

Herefordshire and Worcestershire NHS Trust

Amy is co-founder and director of EquiPath Analytics, a research organisation with a focus on rare bleeding disorders. Amy is also a senior mental health nurse for Herefordshire and Worcestershire NHS Trust
Stacey Mcgeown

EquiPath Analytics Limited

Queen's University Belfast (ROR ID)

Stacey is co-founder and director of EquiPath Analytics, a research organisation with a focus on rare bleeding disorders. Stacey is also a lecturer in the school of nursing and midwifery in Queens University Belfast.
Emma Hallard

Black Country Healthcare NHS Foundation Trust (ROR ID)

EquiPath Analytics Limited

Emma is a senior mental health nurse in Black Country NHS Foundation Trust.
Helen Tate

EquiPath Analytics Limited

Helen is a patient expert reviewer for EquiPath Analytics Limited