2024-04-17 06:55:55
April 17th is the International Hemophilia Day, so Kazimieras Maneikis, a hematologist at the medical diagnostic and treatment center “Hila”, told more about this disease and the challenges it causes.
Can only be determined after an injury has occurred
Hemophilia is divided into three forms according to the complexity of the condition (the level of reduction of the clotting factor). The most severe forms, manifested by sudden onset of bleeding, when there is no injury at all, are always detected in early childhood, often in newborns. In these patients, even the slightest injury can cause prolonged bleeding.
“Lighter forms are diagnosed when the patient becomes more active. The mildest hemophilias may go undiagnosed until adulthood and only appear during major traumas or surgeries. Each patient has a unique tendency to bleed and we are all active differently. The time of diagnosis depends on the severity of the disease and on the chance when the coagulation system’s capabilities will be exceeded”, said hematologist K. Maneikis.
During active physical activity, in order to reduce the risk of possible bleeding, hemophiliacs should take care of protective equipment and plan activities responsibly. If necessary, prepare for coagulation factor replacement therapy.
Why do men get sick more often?
Hemophilia A is the most common, affecting about one in 5,000 men. Hemophilia B is the second most common, affecting one in 30,000 men.
“Men are more likely to be affected because the genes responsible for the disease are on the X chromosome, of which males have only one – the second sex chromosome in males is the Y. Females have two X chromosomes, so they have two copies of the genes that code for these clotting factors. Having at least one “healthy” gene usually protects women from a severe form of the clotting disorder. However, recently efforts have been made to draw public attention and disprove the myth that only men suffer from hemophilia, because hemophilia carriers can also bleed profusely,” explained doctor hematologist K. Maneikis.
A man with hemophilia always inherits the disease-causing gene from his mother. If a woman has one copy of the gene that causes hemophilia and one “normal” copy, she is called a hemophilia carrier.
A carrier of hemophilia has 50 percent. chance of passing the hemophilia gene to each of your children. If it is a son, he will definitely have hemophilia. According to a hematologist, it is important to mention that about a third of hemophilia cases occur due to spontaneous, new mutations, so in these cases hemophilia is not inherited from parents.
With the application of modern treatment, the life expectancy of patients is not shortened
As hematologist K. Maneikis says, in the past, when the understanding of hemophilia and treatment options were very limited, patients often died after the first serious injury. Nowadays, with the use of modern treatment methods and the patient’s own responsible assessment of their condition, a common injury is no longer the cause of death.
Regardless of the form of hemophilia a patient has, all sufferers have a higher tendency to bleed than those without the disease, so treatment is given individually to reduce the risk of bleeding, depending on the severity of the patient’s hemophilia.
Hemophilia is still incurable because, due to congenital genetic variants, sufferers lack coagulation factors in their blood, the production of which remains impaired or absent throughout life, but with modern treatment and care, the disease can be successfully managed. Such treatment can help control bleeding episodes and prevent long-term complications associated with hemophilia.
“Seriously ill patients need to regularly take special medications that help correct the functioning of the coagulation system. Hemophiliacs do not bleed faster than healthy individuals, but bleeding takes longer.
Superficial cuts or scrapes are usually not a major concern and a regular bandage is usually sufficient. When bleeding into the joints or muscles begins, it is important to prescribe hemophilia-specific treatment with clotting factors as soon as possible and to apply the usual first aid, that is, freezing with ice, compression and elevating the limb,” said the hematologist.
According to statistics, modern treatment gives patients a life expectancy no shorter than that of healthy individuals.
Many hemophiliacs worry when they hear that other health problems may require them to be on the operating table. Doctor K. Maneikis states that this fear is justified, as bleeding is inevitable during surgery, but reassures: “Nowadays, with responsibility and proper preparation, all operations can be successfully and safely performed on hemophiliacs, just like healthy people.”
Hopes are pinned on innovative treatments
Medical advances in recent decades have significantly improved the outlook for hemophiliacs: longer-acting clotting factor concentrates and new innovative treatments, so-called non-factor therapy, have been developed.
“Non-factor therapy helps correct the clotting disorder without increasing the concentration of the missing clotting factor. The main advantage of this class of drugs is that they are administered subcutaneously, and one or two doses per month are usually sufficient for a stable effect. Another important advantage is that these medications are extremely important for patients whose bodies develop inhibitors (or, in other words, antibodies against coagulation factors) and traditional factor therapy becomes ineffective,” said hematologist K. Maneikis.
Less than a year ago, the first medications classified as gene therapy were registered, the purpose of which is to eliminate the congenital genetic cause of hemophilia and enable the body to produce the missing clotting factor. According to doctor hematologist K. Maneikis, gene therapy for hemophilia is an actively researched and promising field, and although it is not yet widely available in daily clinical practice, gene therapy is a promising treatment method that will provide an opportunity to defeat hemophilia.
The hematologist notes that health problems that begin in childhood are a huge challenge for the entire family of the patient, and it is even more difficult for parents whose family has not previously known hemophilia – this is about a third of the cases. However, continuous improvement of treatment and a conscious and responsible understanding of the disease provide the patients with opportunities for a full-fledged, active life.
“With proper preparation, even activities associated with a higher risk of injury, such as contact sports, skiing and other activities, are possible. People with hemophilia or other bleeding disorders are nowadays encouraged to move and exercise like healthy individuals.
“Physical activity is important for strengthening muscles, bones and joints and maintaining a healthy weight – with the application of modern treatment methods, all of this is necessary for everyone”, said doctor hematologist K. Maneikis and added that the most suitable physical activity is best discussed together with health care specialists.
2024-04-17 06:55:55