Haemophilia is a disease with significant psychosocial consequences. The congenital hemophilia, a blood disorder that results in uninterrupted bleeding, quite severely impairs the quality of life of patients, according to a survey highlighting the impact on career choices, social activities, and ultimately on the morale of patients.
If they are satisfied with the management of their disease, hemophilia patients complain however of pain and its daily impact.
Causes of Hemophilia
The congenital hemophilia is a rare disease that affects fewer than one in 2000 people. It corresponds to a coagulation defect for most of the time due to a genetic defect carried by the X chromosome; in 30% of cases however, it is due to a new mutation. The diagnosis is made at birth when there are known cases of hemophilia in the family, or at the age of 18-20 months. Moderate forms (5-6%) are usually discovered later.
There are two types of hemophilia. Hemophilia A, which represents 80 to 85% of cases, is due to the absence of production of the factor VIII; 5 times less frequent, hemophilia B is in turn related to the absence of another coagulation factor, factor IX.
Whatever its type, the disease manifests itself in the case of deep wounds by continuous bleeding which can go up to complete blood loss. For Patients suffering from a severe impairment a too abrupt change in temperature or a large enough stress can cause an hemorrhagic stroke. Bleeding occurs most often within the joints and muscles due to trauma, causing severe pain in two thirds of patients.
The repetition of the bleeding eventually damage bone surfaces, causing what doctors call a crippling hemophilic arthropathy. The major challenge in this disease is to reduce the risk of bleeding, because no one knows how to repair bone or cartilage, except to change them.
Which treatment for hemophilia
Since the early 1990s and the contaminated blood scandal, hemophilia patients are treated with intravenous recombinant coagulation proteins, produced by genetic engineering. Ideally, this treatment should also be given before the onset of bleeding. This approach is particularly effective in preventing joint damage. But there are several obstacles to practice, such as its high cost, monitoring binding (resulting in poor compliance, particularly during adolescence) and its major risk of infection.
In practice, patients may visit one of the many centers for the treatment of hemophilia, which are open 7 days 24 hours 7 and 24. According to the a specialized network which examines the geographic distribution of patients and their care, Europe can claim a dense and efficient network. But with the advent of home treatments in the mid-1970s, whether therapeutic or prophylactic ones, the vast majority of patients can be treated at home. With one caveat however, a tendency to use fewer products than necessary, so it is need to emphasize the importance of patient education.
Social impact of hemophilia
An international study was conducted to determine the quality of life and psychosocial consequences of congenital hemophilia. Officials were particularly concerned with the patients themselves as parents of sick children. The pain is continuous for more than one third of patients, half have arthritis, 40% are infected with hepatitis C and 18% by AIDS. The psychological and psychiatric disorders (anxiety, depression, stress, insomnia, fatigue) affect 22% of patients. These dire statistics are not without consequences on the quality of life of patients and parents of sick children, who tend to overprotect them.
The results show a negative impact on the professional lives of two thirds of the patients. This proportion is lower among parents of affected children, but concerns still more than half of them, who had to organize their life, and for a portion (29%) choose their trade, taking into account hemophilia of their child. A significant impact, yet far from that expressed by respondents in nine countries: 22% of adult patients think they were not recruited because of their disease and 10% had lost their jobs because of illness.
The consequences of hemophilia may be most notable on the physical level, with patients forced to opt for gentle activities (such as walking, swimming, gardening), when they prefer football practice (42% of adults and 48% of children), martial arts (30%) or jogging (24%). This observation leads doctors to stress that it is very good when the team wins a swimming competition, but it is less well when they are those of football.
Advances in research
A fourth generation of drugs is expected within 3-4 years. Factor IX, with a half life of 93 hours, 5 times more than the current product is under development. It would allow an injection every 15 days rather than three times per week, a major step that should lead to improved compliance. At the same time, a gene therapy trial which proved effective in the treatment of hemophilia B in 2011 (severe forms have become moderate and mild forms light) is ongoing and could lead to a new treatment by the end of 2013.