Hemophilia is a rare disease, characterized by a lack of proper blood clotting, and those who suffer from it have longer than usual bleeding. Timely treatment and multidisciplinary management are fundamental pillars for the quality of life of hemophiliac patients.
This Sunday, April 17, World Hemophilia Day is remembered. This year, the International Campaign’s slogan “Access for All” advocates the importance of care coverage for people with hemophilia.
This disease is an X-linked congenital bleeding disorder caused by deficiency of coagulation factor VIII in hemophilia A, or factor IX in hemophilia B. Patients with hemophilia have a deficient immune system. detection of bleeding, so that, in any situation in which they present bleeding, they have complications. According to the defective protein, hemophilia is classified into A and B, but the clinical manifestations in both cases are similar.
According to the most recent study by the World Federation of Hemophilia (WFH) on the prevalence of this disease, it is estimated that each year about 20,000 people -mostly men- are born with hemophilia around the world. To date, this same study reports that there are 347,026 people globally with this condition.
According to the World Health Organization, 1 in 10,000 births has this disease. In Paraguay, there are around 500 to 700 patients affected by the disease, but there is a lot of underreporting.
It mainly affects men and the cases in which the symptoms manifest in women are very rare. They may not develop symptoms, which is known as a carrier state, but they can transmit the disease to their sons, which is why it is considered hereditary.
The disease is manifested by bleeding, which may be internal (in muscles or joints) or external (cuts, wounds) that vary in severity depending on the degree of coagulation involvement. The debut is usually associated with the onset of walking in children, with stumbling and other common blows that can cause joint bleeding, known as hemarthrosis. The joint is swollen, painful, and movement is limited. Another form of appearance is with profuse bleeding associated with cuts, tooth decay or other medical procedures.
Currently, the IPS cares for and treats both children and adults. There are 40 children with hemophilia A, 5 children with hemophilia B, 53 adults with hemophilia A, and 7 adults with hemophilia B.
Dr. Adolfo Gaona, hematologist and staff physician at the IPS Hematology Service, comments that prophylactic treatment is essential, which consists of preventively replacing the missing coagulation factor in the blood or weekly or fortnightly treatments with emicizumab, drug that mimics the function of the deficient factor. These interventions modify the natural course of the disease, reducing bleeding episodes, joint involvement and improving the quality of life of patients. The ideal treatment requires cooperation between doctors and patients, to carry out the therapy in a timely manner and to have the maximum possible efficiency. It is important to emphasize that the treatment is for life, because the medication controls the symptoms, but does not cure the disease.
For the comprehensive care of the hemophiliac patient, it is essential to have a multidisciplinary team made up of professionals from different areas that deal with the treatment and support of the patient, such as: hematologist, pediatrician, internist, traumatologist, biochemists, dentists, physiotherapists and kinesiologists, psychologists, nutritionists , Nursing graduates, social workers, among others.
In the event of any abnormal bleeding or swelling in the joints, it is important to see a doctor. The diagnosis begins with a routine coagulation test and, if alterations are detected, the dosage of coagulation factors in the blood is carried out, which confirms the diagnosis and also allows establishing the severity, adds Dr. Gaona.
If treatment is not received on time, there may be short- and long-term consequences. In the short term, patients are likely to experience severe, life-threatening bleeding, especially deep muscle bleeding or bleeding within the brain. As for chronic consequences, they can develop disability and joint deformity due to repeated damage to joint spaces. “The most frequent affectation of hemophilia is the joint, which generates a disorder in the quality of life due to the chronic bleeding of patients due to the alteration of the joints that are degraded, damaged and generate pain, which results in work absenteeism. and school absenteeism,” explains Gaona. He also points out that all these consequences are avoidable with proper medical treatment and follow-up.
With the probability of presenting in 1 in 10,000 inhabitants (for hemophilia A) and 1 in 30,000 (for hemophilia B), social awareness of this disease is crucial for the timely and appropriate management of patients, so that they can lead a full life.
