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.

This May, we focus on raising awareness of Factor II (Prothrombin) Deficiency, an extremely rare bleeding disorder caused by low levels or reduced activity of prothrombin, a key protein required for normal blood clotting.

Factor II (FII) Deficiency is diagnosed when the body does not produce enough functional prothrombin, leading to impaired clot formation and an increased risk of bleeding. The condition can be inherited, most commonly in an autosomal recessive manner, meaning both parents carry the altered gene. In rare cases, FII Deficiency can also be acquired later in life, often in association with other medical conditions or certain medications.

FII Deficiency is one of the rarest bleeding disorders worldwide, with an estimated prevalence of approximately 1 in 2 million people. Because of its rarity, diagnosis may be delayed, and access to specialised expertise can be challenging.

People living with FII Deficiency may experience nosebleeds, easy bruising, prolonged bleeding after injuries, dental procedures, or surgery, and heavy menstrual bleeding in women and girls. Some individuals may also experience bleeding after childbirth or medical interventions. Symptoms can vary significantly, ranging from mild to more severe bleeding that can impact daily life.

Due to the rarity of the condition and variability in symptoms, people with FII Deficiency may face delays in diagnosis and uncertainty in long-term management. Increasing awareness among healthcare professionals and the wider community is essential to support timely diagnosis, access to specialist care, and personalised treatment and preventive strategies.

Raising awareness of FII Deficiency is a vital step toward improving recognition, strengthening research efforts, 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 FII Deficiency on ehc.eu – here

Learn more about it – here

Share the story! Raise awareness! Help the cause!