Congress of European Hematologists: New Treatment Options to Counter Increased Susceptibility to Thrombosis

Vienna, 8 June 2007 – A pulmonary infarct, also known as a pulmonary embolism, is the third most common cause of death in our parts of the world following cardio-vascular and tumor diseases. It, in turn, is the most frequent and worst consequence of a primary disease known as thrombophilia, an increased susceptibility to blood coagulation. Scientists have been researching its causes for a long time to no avail.

Medical experts do know much more about thrombophilia today. They can detect many at-risk patients in advance and develop new efficient strategies for treating them. All this progress is inseparably connected to a one name: Professor Rogier Bertina, head of the Laboratory for Coagulation Chemistry at the Medical University Center in Leiden, the Netherlands. This renowned researcher will receive the José Carreras EHA Award 2007 for outstanding achievements in the field of hematology today at the Congress of the European Hematology Association (EHA), the experts in blood and bone marrow diseases. The venue for this year’s EHA Congress is the Neue Messe in Vienna (A).

“In a healthy body,” Professor Bertina explained, “there is a fine balance in the flow of two sets of factors, namely on the one hand, the factors causing blood to coagulate quickly where need be to close a wound or prevent blood loss and on the other, factors inhibiting coagulation as long as there is no need for it. This balance can be disrupted in either direction. Hemophiliacs have a deficit of coagulation factors while thrombophiliacs have an excess of them.”

Thrombophilia as a widespread family trait Some of the cases of thrombophilia in the population are simply a symptom of aging and at least co-triggered by a sedentary lifestyle. However, an increased susceptiblity to coagulation at a younger age is typically often found in certain families, which points to genetic causes: “Originally we looked for a single thrombophilia-triggering gene. Today we know how highly complex this process is. A number of factors can be involved, either individually or in combination with each other.”

Factor V Leiden Mutation, a factor discovered by Professor Bertina, plays an important part in this process. This genetic mutation in the blood coagulant Factor V occurs with great frequency (in three to seven percent of the general population) and gives the upper hand to the coagulant forces in the blood. Experts estimate that about 30 percent of all thromboses in 20 to 40 year-olds can be traced to the Factor V Leiden Mutation.

A similar minor mutation in another gene causes the body to produce too much prothrombin, a precursor of the enzyme thrombin. If an injury occurs, this enzyme supports the transformation of profibrin into the fibrin, the body’s own glue, and thus also leads to a dominance of coagulant substances. This mutation is also common (i.e. found in about two percent of the general population) and increases the risk of thrombosis three to four-fold and by many times more if Factor V Leiden Mutation is present at the same time.

New Treatment Options for At-Risk Patients “These findings and a number of others allow us to carry out preventive treatment on at-risk patients with anticoagulant drugs,” Professor Bertina explained.

There are no other remedies against most of these genetic defects except this type of prevention and persuading the individuals involved to avoid additional risk factors such as smoking and birth control pills. However, the latest finding of the new José Carreras Award winner opens up new treatment paths. Professor Bertina: “One of the body’s own important anticoagulants is called antithrombin 1 and forms when fibrin and thrombin bond with each other. We have now discovered that a small change in the fibrinogen gamma gene, one of the three genes for producing the raw materials for fibrin, inhibits this bonding from occurring. As a result, there is a shortage of antithrombin 1 in the body.” This genetic variation causes an increased risk of thrombosis in about five percent of the general population. “Knowing this fact, we have now been able to help at-risk patients by administering this substance to them in the form of medicine.“

The next series of searches are already underway at the laboratory in Leiden. Right now, the lab is scanning the DNA of pairs of siblings who had venous thrombosis before reaching the age of 45. Professor Rogier Bertina: “If this holds true for both siblings, the cause is very probably genetic. By looking at a total of 400 markers, we hope soon to be able to detect further genetic variations relevant to thrombophilia and to develop suitable treatment methods.”

Contact:

B&K Medien- und Kommunikationsberatung GmbH Dr. Birgit Kofler; Daniela Pedross, MA.
Porzellangasse 35/Top 3, A-1090 Vienna
Phone: 0043-(0)676-6368930; Fax: 0043-(0)1-319-43-78-20
E-Mail: kofler@bkkommunikation.at; pedross@bkkommunikation.at

About EHA

The European Hematology Association (EHA) aims to promote excellence in clinical practice, research and education in European hematology.
Today, EHA – with over 2600 active members from 95 countries – is a consolidated organization that pursues a large and growing number of projects and programs. An Executive Board and Councilors elected by the membership form the governmental body responsible for the strategy and organization of the association.

About the EHA Annual Congress

The EHA annual congress is organized every June in a major European city. Over the years the congress has become the meeting place for hematologists in all fields of the speciality. The congress program has sessions on clinical and laboratory hematology and covers all the major hematological subspecialties, including hemato-oncology, red cell disorders, hemostasis, thrombosis, pediatric hematology and transfusion medicine.