Rare Bleeding Disorders
Welcome back to our Changing Haemophilia® blog! Following on from rare disease day on the 28th of Feb, we are raising awareness of rare bleeding disorders — acquired haemophilia and factor XIII deficiency.
Acquired haemophilia is a rare autoimmune disorder in which blood clots do not form properly, leading to uncontrollable bleeding.¹ ² Acquired haemophilia is not inherited³ and usually develops in later life (average age 64–78), but can be associated with pregnancy.⁴
Linda was diagnosed with acquired haemophilia at 45 “some co-workers observed bruising on my body and thought that I had been in a fight or accident.”
Factor XIII deficiency is also a rare bleeding disorder that causes blood clots to easily break down. Without treatment, factor XIII deficiency is potentially life-threatening, due to the high risk of brain haemorrhage, which occurs in up to 30% of patients.⁵
Brian was diagnosed with Factor XIII deficiency at the age of two “I continued to have bruising and prolonged bleeding, the doctors weren’t sure what was going on.”
Around 1 in 2–5 million people are affected by factor XIII deficiency,⁶ while acquired haemophilia has an estimated incidence of approximately 1.5 per million population per year.⁷ Despite the statistics, these rare bleeding disorders are underdiagnosed or diagnosis is delayed; potentially due to a lack of awareness by non-specialist doctors and the variability in the symptoms.¹ ⁷
“I did pass the prick test or bleeding test and my blood clotted… so they sent me to Massachusetts to get further testing…” — Brian.
Unlike haemophilia which predominantly affects males, factor XIII deficiency and acquired haemophilia can occur in both sexes.¹ ⁵
Living with a rare bleeding disorder can be a challenge, but inspirational people like Brian and Linda are helping us to raise awareness of these conditions.
“We have to endure. We have to be persistent. We have to be patient with it and not allow it to manage us. We maintain our support system, and our team, you know you have a team.” — Linda
Learn more about Brian and Linda here.
1. Kessler CM and Knöbl P. Eur J Haematol. 2015; 95: 36–44.
2. Giangrande P. World Federation of Haemophilia. 2012; 38.
3. Knoebl P, et al. J Thromb Haemost. 2012; 10: 622–631.
4. Kruse-Jarres R, et al. Am J Hematol. 2017; 92: 695–705.
5. Carcao M, et al. Semin Thromb Hemost. 2017; 43: 59–68.
6. National Organization for Rare Disorders (NORD). Factor XIII Deficiency. Available at: https://rarediseases.org/rare-diseases/factor-xiii-deficiency/. Accessed: Jan 2018.
7. Collins PW, et al. Blood. 2007; 109: 1870–1877.
