What does haemophilia mean?
Haemophilia is a congenital, sex-linked (X-linked recessive) inherited coagulation disorder caused by a deficiency or defect in a protein of the coagulation cascade, factor VIII (haemophilia A) or factor IX (haemophilia B).
Severity of haemophilia
Haemophilia only affects men, while women are usually only carriers of the genetic defect (conductors). Female conductors may have a slight bleeding tendency. In around 30% of patients, the family history is negative; this is referred to as sporadic haemophilia.
What symptoms can occur with haemophilia?
Clinically, this defect manifests itself as haemorrhages in joints and muscles as well as in soft tissue and internal organs (in a ratio of around 80:20). Without treatment, such recurrent haemorrhages lead to walking disability and invalidity due to damage to the joints (cartilage, synovia) and the resulting muscle changes (atrophy, shortening). The clinical symptoms correlate with factor VIII or factor IX activity, which is why both forms are categorised into four degrees of severity:
- Severe haemophilia: 0-1 % residual factor activity
- moderate haemophilia: 2-5 % residual factor activity
- mild haemophilia: 6-15 % residual factor activity
- Subhaemophilia: 16-50% residual factor activity
The severe form of haemophilia, less so the moderate form, is characterised by so-called spontaneous bleeding, i.e. bleeding without prior injury or surgery. The disease manifests itself in early childhood, when the child begins to walk. Subcutaneous haematomas and joint haemorrhages occur, particularly in the ankle and elbow joints.
In the mild form and in subhaemophilia, such spontaneous haemorrhages are rare and only occur after injuries or operations. Mild or subhaemophilia is often only diagnosed in adulthood.
Haemophilia therapy
The missing coagulation factor VIII can only be supplied via the vein. A distinction is made in treatment between
a) factor administration "on demand" (in the event of bleeding) and
b) prophylactic factor administration
Children with severe haemophilia are initially treated "on demand". In the event of frequent haemorrhages, particularly in the joints, prophylactic factor VIII administration is switched to as soon as possible. This means that the child receives the missing factor regularly, possibly from the age of learning to walk (approx. 12-16 months). As this must be administered via the vein, a permanent vein access is usually required beforehand. The aim of prophylactic factor administration is to achieve a continuous factor level above 1%, so that your child is better protected when learning to walk, playing and in the event of accidents. Prophylactic factor administration results in fewer haemorrhages and therefore less joint damage in the long term. Studies show that patients with haemophilia today have a good quality of life and normal life expectancy due to the enormously improved joint situation.
Children with moderate haemophilia very rarely require factor prophylaxis. And even children with mild or sub-haemophilia usually only need "on demand" therapy.
Can my child with haemophilia attend kindergarten? A child with haemophilia can attend kindergarten and later school as normal. Thanks to the prophylactic administration of haemophilia factor, it is well protected and can also take part in gymnastics and excursions, etc. Sport is even recommended, as it promotes dexterity and reduces the risk of injury. The child should ALWAYS have their haemophilia card with them in case of emergencies.
Von Willebrand syndrome
What is Von Willebrand syndrome?
Von Willebrand (Jürgens) syndrome (vWS) is also a congenital coagulation disorder. VWS is even more common than haemophilia, but usually has a much milder clinical course, so that many of those affected remain undetected for the rest of their lives. vWS affects both boys and girls. The von Willebrand factor (vWF) plays an important role in haemostasis, as it acts as a bridge between the injured vessel wall and blood platelets on the one hand and stabilises the coagulation factor VIII on the other.
Symptoms of von Willebrand syndrome
The most common symptoms in children with vWS are nosebleeds and a tendency to bruise after bruising. Furthermore, bleeding complications can occur during operations, especially in the mucous membrane area (throat, nose and ears or during dental treatment), for which preventive treatment is indicated. Girls after puberty may also experience increased menstrual bleeding. In severe vWS, bleeding similar to haemophilia A occurs in addition to mucosal bleeding due to FVIII deficiency.
How are children with vWS treated?
Treatment can be carried out with the substance desmopressin (MinirinR, OctostimR), which mobilises the body's own reserves of FVIII and thus improves blood coagulation for some time. However, only mild and moderate forms of vWS respond to desmopressin and its effectiveness must be tested in advance for each individual patient. Severe forms require the administration of vWF concentrate, which is obtained from human plasma.