Even if the vernacular often says so, it goes without saying that neither blood clots nor hemophilia actually have anything to do with blood that is too thick or too thin. In fact, a disruption to blood clotting, which is vital for humans, can become a danger.
Thrombosis
Thromboses – blood clots in veins or arteries – are the cause of some of the most frequent and serious emergencies in hospitals. These blood clots can be carried along in the bloodstream until they reach a point that is too narrow and block the blood vessel.
Why are thromboses so common?
Venous thromboses occur primarily in the blood vessels of the extremities, mostly in the legs. One of the most important reasons is the immobility of the person, for example after an operation. However, partial immobility, such as a plaster cast on the arm or leg, also favors thrombosis. Another risk factor is oestrogen, which is why more women are generally affected by venous thrombosis. Estrogen-containing drugs also play a role here. However, pregnancy and the subsequent postpartum period are also potentially favorable for venous thrombosis. Smoking, on the other hand, is primarily a risk factor for plaque on the walls of arteries. This type of vasoconstriction is not an actual thrombosis, although it is no less problematic.
What to do in case of thrombosis?
Many thromboses can be treated by the family doctor. However, if they occur repeatedly or are life-threatening, the specialists at the hospital are called upon. “Different clinics take care of thrombosis patients, depending on how they need to be treated. As a rule, thromboses require temporary or permanent blood thinning medication. In some cases, they are also removed by intervention, which is often minimally invasive at the USZ today,” explains Jan-Dirk Studt, Senior Physician meV at the Department of Medical Oncology and Hematology. The risk of a new thrombosis is particularly high if the initial event cannot be explained by provoking factors such as a previous operation, but is to be assessed as unprovoked. “It is therefore very important to take a precise medical history when planning the duration of blood-thinning therapy. In many cases, additional laboratory tests for thrombophilia are carried out. The long-term treatment concept is most successful if all these circumstances are taken into account as precisely as possible,” explains Jan-Dirk Studt.
Hemophilia
Every child has heard of hemophilia. This is astonishing in that the hereditary disease is rare. Hemophilia is inherited via the X chromosome and affects men. A distinction is made between two forms: hemophilia A, in which the blood clotting factor VIII is reduced, occurs in 1:5000-10,000 men, and hemophilia B, in which factor IX is affected, in 1:25,000-50,000. Due to the lack of the respective factor, hemostasis only works to a limited extent.
Sudden bleeding
“What many people don’t know is that severe forms of haemophilia repeatedly cause spontaneous bleeding in joints and muscles if left untreated. This destroys the joints over time. In severe cases, those affected become disabled,” explains Jan-Dirk Studt. “Fortunately, this is rarely seen in Europe thanks to good treatment. However, we have already treated several patients from other countries whose joints were unfortunately already completely destroyed.”
Normal life
In many patients with severe hemophilia, the missing clotting factor is administered in the form of long-term preventive treatment. Situations with a high risk of bleeding, such as operations, must also be well planned. “Otherwise, many haemophiliacs in Switzerland lead a largely normal life – perhaps a little too normal from a medical point of view, as sports with a high risk of injury are of course not ideal,” explains Jan-Dirk Studt.
New therapies
Therapy with coagulation factors works well, but does not eliminate the cause. “In haemophilia, the body cannot produce a clotting factor. An optimal therapy would not simply supply the factor from outside, but would enable the body to produce it itself,” explains Jan-Dirk Studt. That is why research is being carried out into gene therapies that should make this possible. The specialist adds: “Gene therapy is already available in advanced study programs. It is therefore not a distant vision, but a very realistic chance of a cure for haemophilia patients.”
