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| Dr Mattias Larsson. Photo courtesy of Family Medical Practice |
Dr Mattias Larsson*
When Hoàng was an eight-year-old vibrant boy, he was active in sports at school. His parents were satisfied with his level of activity but thought that he was a bit clumsy. He always had large bruises after football and regularly got nose bleeding when playing rough with other kids. They had been to several doctors regarding his tendency for bruising and nose bleedings, but most examined him and laughed it off saying – boys are like that, play rough and get small injuries and bleedings.
One Christmas when the family was home and gave presents, Hoàng started to fight with his older brother over a present and as they punched each other he started to bleed from the nose, it was a profuse bleeding that did not stop, neither did Hoàng who continued to fight his brother. The already decorated house became even more red with blood everywhere Hoàng had roamed around. The parents tried to stop the fight and then the bleeding, but could not, so they rushed Hoàng to Family Medical Practice that they knew was open during Christmas.
When they met the paediatrician, they told him about the frequent nose bleeding and bruising. The paediatrician checked the nose, saw the site of bleeding, and tried to stop it but had some difficulties. He took some test including full blood count and coagulation test. The aPTT test was elevated showing that Hoàng had long bleeding time and low coagulation ability.
As there was a long history of brucites and bleeding as well as prolonged bleeding time the paediatrician did some more tests. After some days, he called back and asked them to come to the clinic. The test showed that Hoàng lacked factor IX in the coagulation cascade.
Hoàng was diagnosed with a bleeding disorder, Haemophilia B, also known as Christmas disease. The cause is a gene defect leading to inadequate production of factor IX either through inheritance from mother or a new mutation. This condition predominantly affects males, however the carrier females may also occasionally experience more significant bleeding symptoms. The prevalence of haemophilia B is 3.8 per 100,000 live males. The incidence is equal among all ethnic groups.
Clinical presentations of the disease vary in severity, and males affected by the severe form may have severe bleeding at birth. In contrast, individuals with milder cases usually experience easy bruising, nose bleedings and prolonged bleeding after trauma or surgery.
Hoàng received replacing factor IX treatment and the parents noticed that he could participate in sports without getting bruises, after some time they also noticed that the frequency and severity of nose bleedings decreased. The doctor explained that the treatment will prevent more severe conditions such as joint and muscle bleedings as well as possible brain haemorrhage in the future.
Why is it called Christmas disease – is it because the profound bleeding makes everything red, rosy, and jolly…? Well – not really… The reason is simpler than that. The first to diagnose case Haemophilia B in a patient was Dr Stephen Christmas in 1952. However, the disease has been known much longer than that. It has also been called “the royal disease” due to its spread from Queen Victoria of Great Britain through royal marriages to the Spanish, German, and Russian royal families.
There is now a cure through the new gene therapy Hemgenix that is approved by FDA and EU. However, the access to treatment is limited by the high price, one time treatment for about US$3.5 million. However, as with most treatments it might become cheaper and more accessible with time.
So, if you or your child experience frequent and severe bruising or bleeding it is recommended to check it up with a clinic that has access to haematological testing for causes of bleeding to get the right diagnosis and treatment before more severe complications occur. Family Medical Practice
*Dr Mattias Larsson is a paediatric doctor at Family Medical Practice and associate professor at Karolinska Institutet and has a long experience in research on infectious diseases. He has worked with the Oxford University Clinical Research Unit and the Ministry of Health of Việt Nam. He is fluent in English, Swedish, Vietnamese, German and some Spanish.
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