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Most adult Poles with hemophilia struggle with many other conditions at the same time. One of them is chronic hepatitis, a consequence of treatment with clotting factors, which in the 80s and 90s was produced from plasma obtained from multiple donors.
Half of the patients who were administered these agents at that time were infected with the hepatitis C virus (HCV), while over 90% patients became infected with type B virus (HBV). In 20-30 percent those infected with HCV, 15-20 years after infection, developed cirrhosis of the liver, which increases the risk of cancer of this organ six-fold. Drugs used to treat cirrhosis of the liver cause them to bleed from the esophagus. Moreover, experts emphasize that chronic hepatitis increases the risk of death by almost 17 times. Neoplastic disease and cirrhosis of the liver – along with ischemic heart disease and stroke – are the most common causes of death in patients with hemophilia.
Children and young people are doing better
For many years, the level of treatment of patients with hemophilia in Poland, measured primarily by the number of clotting factor units per year per citizen, was only 1,3 units, although the World Health Organization recognized that the minimum necessary to save lives is 2 units. It is because of the limited access to treatment with clotting factors that over 90 percent. adult patients today have the so-called severe haemophilic arthropathy – their joints are so damaged by repeated strokes that they have problems walking, boarding a bus or tram, climbing stairs. Many patients are looking forward to specialist rehabilitation, and those who have been qualified for surgery have to stand in a queue of several years. During this time, more bleeding occurs, which damages their joints even more.
Over the last few years, the level of treatment of patients with hemophilia in Poland has improved. In 2008, the clotting factor consumption rate increased to 2 units per person, and two years later to 4,7 units. But the European average is already 6-8 units. Moreover, unlike children and adolescents up to 18 years of age receiving prophylactic treatment to prevent bleeding into muscles and joints, adult patients still only have access to treatment on demand. They are given clotting factors on an ad hoc basis when there is already bleeding. The exceptions are repeated strokes and the rehabilitation period – then an adult ill can count on short-term prophylactic treatment.
Another problem highlighted by the Polish Association of Patients with Hemophilia is the use of mainly plasma-derived coagulation factors in the treatment of hemophilia. They are less safe than recombinant factors obtained by genetic engineering, to which only children who have not previously been treated with plasma-derived factors have access in Poland. For example, in Hungary, recombinant factors already account for about 40 percent. all drugs used in the treatment of haemophilia.
Bogdan Gajewski, president of the Polish Association of Patients with Hemophilia, emphasizes that despite the many inactivation procedures that are currently applied to plasma-derived coagulation factors, they can still transmit some types of viruses, as well as prions. There is no such risk in the case of recombinant factors.
– The most modern recombinant third generation coagulation factors do not contain human or animal proteins, therefore they are completely free from infectious pathogens – explains Prof. Jerzy Windyga, head of the Department of Disorders of Hemostasis and Internal Diseases, Institute of Hematology and Transfusion Medicine in Warsaw.
The older they are, the more sick they are
Over time, the painful bleeding in joints, muscles and internal organs associated with hemophilia is joined by degenerative and inflammatory changes in the joints, osteoporosis, heart disease, kidney disease, and cancer, typical of old age. Research shows that 77 percent. hemophiliacs over 65 have two comorbidities. They suffer from hypertension more often and have elevated blood sugar levels, while they are less frequently diagnosed with hypercholesterolaemia. They also have a lower risk of death from an acute coronary event (including myocardial infarction), which is probably related to bleeding disorders in haemophilia – they are less likely to develop a thrombus closing the lumen of the coronary vessel after plaque rupture.
Surgery, orthopedic, and rehabilitation procedures are increasing in aging hemophiliacs, and people on dialysis require a clotting factor concentrate before and after each procedure. Chronic pain is also becoming an increasing problem. Fighting it is difficult because patients with blood clotting disorders cannot take many effective painkillers and anti-inflammatory drugs.
There are no guidelines for the treatment of comorbidities in people with haemophilia, but experience from adult treatment centers for patients with haemophilia and comorbidities should be treated in the same way as people without haemophilia. However, they should be provided prophylactic treatment with factor VIII or IX concentrate. In acute coronary syndrome, the decision to treat a patient with hemophilia should be made by a cardiologist in cooperation with a haematologist.
Male disease transmitted by women
Haemophilia is a congenital bleeding disorder that is caused by a mutation of genes encoding coagulation factors – VIII or IX. The lack or deficiency of factor VIII in the blood causes haemophilia A, while the lack or deficiency of factor IX causes haemophilia B. – Haemophilia A is six times more common than haemophilia B, affecting one in 5 men. Women are carriers who usually do not have any symptoms of the disease but pass it on to their children.
Only about 60 cases of hemophilia in women have been reported worldwide. Their fathers had hemophilia and their mothers were carriers.
Depending on the degree of clotting factor deficiency, resulting from the type of genetic mutation, there are three types of hemophilia: mild (clotting factor activity is 5-50% of the normal), moderate (clotting factor activity is 2-5% of the normal) and severe ( clotting factor activity does not exceed 1% of normal).
Mild haemophilia may be asymptomatic for a while, until after surgery, such as knee arthroscopy, when there is bleeding into a joint. In some patients, it occurs due to trauma.
Moderate muscle and joint bleeding occurs about once a month, but it does not occur for no apparent reason.
Spontaneous haemorrhages, usually occurring more than once a week, are the domain of severe haemophilia in which the clotting factor is virtually no longer produced by the patient.
– Polish hemophilia registers are dominated by the severe form, the clinical symptoms of which appear already in early childhood – says Prof. Krystyna Zawilska from the Department of Hematology and Internal Diseases at the Multispecialist Hospital. J. Strusia in Poznań, chairwoman of the Hemostasis Group of the Polish Society of Hematologists and Transfusionists. And he adds that to diagnose this form, it is enough to perform basic blood coagulation tests, determining the blood clotting time (APTT), prothrombin time (PT) and the number of platelets. If any abnormalities are found, it is still necessary to measure the activity of the clotting factor. While the three previous tests are performed by almost all laboratories, the clotting factor activity is determined only in specialized centers, such as the Institute of Hematology and Transfusion Medicine in Warsaw.
The percentage of moderate and mild forms is unknown in Poland, mainly due to their underdiagnosis. In Western Europe, where patients with hemophilia are cared for better than in Poland, moderately severe forms dominate.
Text: Mariola Marklowska-Dzierżak
Also read: Why do women die in childbirth? Undiagnosed hemophilia