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 August, we focus on raising awareness of Factor VII (FVII) deficiency, an extremely rare inherited bleeding disorder caused by a defect in the early stage of the blood clotting process.

Factor VII deficiency occurs when coagulation factor VII is absent, reduced, or dysfunctional. Factor VII plays a key role in initiating blood clotting by activating the coagulation cascade after blood vessel injury. Without adequate FVII activity, the clotting process may be delayed or insufficient, increasing the risk of prolonged or spontaneous bleeding. The condition is usually inherited in an autosomal recessive manner, meaning both parents carry the altered gene.

FVII deficiency is one of the rarest inherited coagulation disorders worldwide. Bleeding severity varies widely and does not always correlate with factor VII levels, which can make diagnosis and clinical management particularly challenging. While routine clotting tests may show abnormalities, awareness and access to specialised expertise are essential for accurate diagnosis.

People living with factor VII deficiency may experience nosebleeds, easy bruising, prolonged bleeding after injuries or surgery, heavy menstrual bleeding, bleeding in muscles or joints, and, in severe cases, gastrointestinal or intracranial haemorrhage. Symptoms can range from mild to life-threatening and may present at any age.

Due to its extreme rarity and variable clinical presentation, individuals with FVII 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, appropriate treatment, and access to specialised care.

Raising awareness of Factor VII 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 VII deficiency – here

Watch the EAHAD Module on Factor VII deficiency – here

Learn more about Factor VII deficiency – here

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