European Rare & Inhibitor Network • EHC Community

European Rare and Inhibitor Network (ERIN)

Did you know that 5% of the world’s population are currently living with or affecting by a rare disorder?

Disease-based

About the ERIN

In 2022, the EHC Inhibitor Working Group evaluated the achievements of the inhibitor programme, coming to the conclusion that largely the initial objectives have been met and it was time to set new goals and to capitalise on the achievements of the network. So, it was decided to expand the network built for and with people with inhibitors to work on a better inclusion of people with ultra-rare bleeding disorders. This cohort of our community are still dealing with a lack of information about their condition and also a lack of treatment options, leading to the heavy burden of isolation and loneliness in terms of their inclusion in the bleeding disorder community.

To best serve the needs of all this encompassed in the ERIN, a three-fold route will be taken.

Track 1: Providing information, education and training to people with ultra rare bleeding disorders.

Track 2: Ensuring the transfer of knowledge into the local inhibitor communities.

Track 3: Advocacy, and better treatment and care for all.

Awareness Campaign

Extremely Rare Bleeding Disorder of the Month: Bernard-Soulier syndrome

This June, we focus on raising awareness of Bernard–Soulier syndrome (BSS), an extremely rare inherited bleeding disorder caused by a defect in platelet adhesion, a critical step in normal blood clotting.

Bernard–Soulier syndrome is diagnosed when platelets lack or have dysfunctional glycoproteins on their surface, preventing them from binding properly to damaged blood vessels. This leads to impaired clot formation and an increased risk of bleeding. BSS is usually inherited in an autosomal recessive manner, meaning both parents carry the altered gene.

BSS is one of the rarest inherited platelet disorders worldwide. Due to its extreme rarity and its overlap with other platelet conditions, diagnosis is often delayed, and access to specialised expertise can be limited.

People living with Bernard–Soulier syndrome may experience frequent nosebleeds, easy bruising, gum bleeding, heavy menstrual bleeding, and prolonged bleeding after injuries, dental procedures, or surgery. A distinguishing feature of BSS is the presence of unusually large platelets and a low platelet count. Symptoms can vary widely, from mild bleeding to more severe episodes that significantly affect daily life.

Because of its rarity and clinical complexity, individuals with BSS may face uncertainty around diagnosis, treatment options, and long-term management. Increasing awareness among healthcare professionals and the wider community is essential to support early recognition, access to specialised care, and personalised management strategies.

Raising awareness of Bernard–Soulier syndrome is a vital step toward improving diagnosis, advancing research, and ensuring better care and support for people living with extremely rare bleeding disorders.

If you are interested in learning more about the disorder:

Read more about it in our space dedicated to Bernard–Soulier syndrome – here

Learn more about Bernard–Soulier syndrome – here

Share the story! Raise awareness! Help the cause!

ERIN Committee Members