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: Factor XIII deficiency

This July, we focus on raising awareness of Factor XIII (FXIII) deficiency, an extremely rare inherited bleeding disorder caused by a defect in the final stage of blood clot stabilisation.

Factor XIII deficiency occurs when coagulation factor XIII is absent or dysfunctional. Factor XIII plays a crucial role after a clot has formed by cross-linking fibrin strands, which strengthens and stabilises the clot. Without adequate FXIII activity, clots are fragile and can break down prematurely, leading to delayed or recurrent bleeding. The condition is usually inherited in an autosomal recessive manner, meaning both parents carry the altered gene.

FXIII deficiency is one of the rarest inherited coagulation disorders worldwide. Because routine clotting tests are often normal, diagnosis is frequently delayed, and access to specialised diagnostic expertise may be limited.

People living with factor XIII deficiency may experience delayed bleeding after injuries or surgery, poor wound healing, easy bruising, recurrent pregnancy loss, and in severe cases spontaneous or post-traumatic intracranial haemorrhage. Symptoms can range from mild to life-threatening and may not become apparent until significant bleeding occurs.

Due to its extreme rarity and distinctive clinical features, individuals with FXIII deficiency 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, timely diagnosis, and access to specialised care.

Raising awareness of factor XIII deficiency 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 Factor XIII deficiency – here

Learn more about Factor XIII deficiency – here

Share the story! Raise awareness! Help the cause!

ERIN Committee Members