Haemophilia
Haemophilia has become particularly famous for having spread among the royal families of Europe through the descendants of Queen Victoria, its mode of transmission is genetic.
Symptoms of haemophilia are:
Bleeding, both internal and external and without intervention are uncontrollable and may put the patient at risk of life.
The haemorrhage is the most frequent type of external trauma such as wounds gengivorragie for oral, or after tooth extraction, epistaxis, hematuria, melena.
Internal bleeding are the most frequent and also the most serious are: bruising and muscle haematomas.
Cerebral haemorrhages are the most serious ever but also very rare.
The ematri are bleeding in the joints causing pain and inability to properly use the affected limb.
In the long term causes the ankylosis of the affected joint and will result in a reduced bone and muscle development.
The joints most affected are the knee, elbow and hip. The bleeding is due to the lack of a protein that participates in the coagulation cascade, the lack of this protein prevents the blood to clot and then you have the bleeding.
There are three different known types of haemophilia called Haemophilia A, Haemophilia B and Haemophilia C.
All three types cause bleeding disorders and are divided according to the missing protein.
A Life with the Defect
The disease manifests itself immediately in the first years of life with often spontaneous bleeding especially at the joints, soft tissues and vital organs, which can prove fatal.
But today it is rare to come about because the patients are treated immediately with specific therapies in order to control the illness.
The fact is that repeated bleeding, especially in the joints and muscles, can cause pain and over time takes to deformity and severe movement restrictions.
For this reason, hemophilia is a chronic, painful and disabling illness.
Each affected person learns to understand, since childhood, that for the entire life will have to live and cope with the disease and be constantly monitored by doctors: any medical intervention, even the most trivial like the extraction of a tooth, needs the advice of haematologists who work in specialized centres.
In Italy there are 42 of these centres, each of which provides a comprehensive clinical approach and serves mainly as a centre of reference.
"Our patients are requiring particular attention, and must be constantly monitored by specialists" says Elisa Santagostino from the Haemophilia Surgery at Policlinic in Milan.
"This is why doctors and surgeons who deal with haemophiliacs seek advice from us; we have built a network of consultants in various fields (surgeons, dentists, gynecologists, mostly from Maggiore Hospital) who acquired considerable experience in treating these patients and to whom we can address our patients."
Patients go to these Centres especially for routine checks. In fact, haemophiliacs are not usually admitted to hospital, they can cure themselves at home and lead an almost normal life.
Provided they avoid activities that can provide them with trauma, such as football or heavy work.
On average, a haemophiliac has 30 episodes of bleeding per year (in severe cases can be as high as 150): even if arrested by the drug, these haemorrhages affect the quality of life of patients and above all, although limited, the damage is not avoided altogether. For this reason there are those who propose to move from treatment on demand quote to preventive treatment.
Apart from the objective difficulty of a cure of this type (which includes the infusion of factor every other day), we run into a major economic obstacle" emphasizes Mannucci. "The drug, in fact, is not cheap. And this is the reason why the prophylaxis is reserved to the most serious cases, when the bleeding occur more than thirty times a year."
Just over half of patients are affected by the severe form of the disease, reflected by less than one percent of a concentration of blood coagulation factor. These cases require constant replacement therapy, which guarantees a consistent supply of factor VIII for the survival of patients.
Less serious is the situation of those who suffer from moderate or mild form, where is sufficient the administration as needed.
We must not forget that replacement therapy has a serious defect: it carries the danger of infection, AIDS and hepatitis in the first place, as has already happened.
"In the seventies haemophilia was the clearest example of a chronic disease that could have an effective work of secondary prevention with home care treatment and early learning" emphasizes Mannucci.
However, there was some risk.
At the time, in fact, the coagulation factors were obtained by concentrating the pool of blood from 10000-20000 donors, which posed the risk of viral transmission, hepatitis C was the most frequent case. But balancing risks and benefits, and considering that the development of hepatitis is slow and that many patients are cured, however it was determined that it was worth continuing the treatment.
The real blow came in the eighties with the spread of AIDS. Until the test has been available for the detection of HIV and how to disable it (just heat), in Italy more than 800 haemophiliacs have been infected.
Now, fortunately, the drug is produced in the laboratory with techniques of biotechnology, and the danger of transmitting infection has disappeared "almost completely."
The balance of pre-biotechnology is heavy: almost all adult haemophiliacs were infected with hepatitis, especially in the form C.
30 percent are seropositive for HIV.
In recent years the situation has improved thanks to better checks on the blood of donors and the introduction of synthetic factor, which is still too expensive and not solve the problems given the possible development of antibodies against the same factor.
In extreme cases, we resort to a liver transplant, the organ that produces the larger amount of factor VIII.
