Hemophilia (ICD-10-GM D66: hereditary factor VIII deficiency; ICD-10-GM D67: hereditary factor IX deficiency; ICD-10-GM D68.-: Other coagulopathies), the disease in question is hemophilia.
After “Willebrand-Jürgens syndrome“, hemophilia is the most common hereditary bleeding tendency (hemorrhagic diathesis; coagulopathy).
According to ICD-10-GM, the following forms can be distinguished:
- Hemophilia A (ICD-10-GM D66: hereditary factor VIII deficiency) – approximately 85% of cases.
- Hemophilia A-: Factor VIII deficiency (circa 90 %)
- Hemophilia A+: Factor VIII is inactive (circa 10 %)
- Hemophilia B (ICD-10-GM D67: Hereditary factor IX deficiency) – circa 15% of cases; factor IX is inactive or absent.
- Angiohemophilia (ICD-10-GM D68.0-: Willebrand-Jürgens syndrome) – most common form of hereditary thrombophilia (hereditary bleeding tendency).
In addition, basically any clotting factor can be decreased in activity or absent and thus cause a bleeding tendency.
Sex ratio: the disease is inherited X-linked recessive, so hemophilia is usually found only in men. Females are conductors (carriers).
According to the World Health Organization (WHO), the prevalence of the disease is 400,000 worldwide. In Germany, approximately 10,000 people are affected.
The incidence (frequency of new cases) for hemophilia A is 1 diseased person per 10,000 male births and for hemophilia B is 1 diseased person per 30,000 male births.
Course and prognosis: The course of the disease does not change. There is no cure for the disease. With substitution therapy with factor concentrates (clotting factors), those affected can lead a largely normal life. 90% of hemorrhages in hemophilia occur in joints and muscles. Possible sequelae include joint damage and muscle shrinkage.
