| Abstract [eng] |
Author: Kristina Valterytė. Scientific supervisor: asist. dr. Sonata Šaulytė Trakymienė. Title: Congenital Hereditary and Spontaneous Haemophilia A diagnostics: Clinical and Laboratory features. Aim. To analyze the frequency, clinical and laboratory features of new cases of severe haemophilia A and to compare clinical and laboratory diagnostic features of spontaneous cases with hereditary cases. Results. The incidence of severe haemophilia A is 1.4 cases per year or 21 cases per 15 years. 66.7% of subjects had a positive family history of haemophilia and 33.3% were spontaneous cases. With a positive family history, the mean diagnosis of haemophilia A was 6.02 months +/-1.40. Patients without family history of haemophilia A were diagnosed at 12.14 months +/-4.67 old. Both groups of patients had similar clinical symptoms of bleeding: prolonged bleeding after drawing blood from a finger or other minor medical interventions, ecchymosis, and painful hematomas startend to appear on the extremities when babies start crawling and walking. Blood tests have shown lower hemoglobin levels and lower platelet counts in spontaneous cases. All patiens received prophylactic treatment of haemophilia A. On average, prophylactic treatment was started at 15.29 months 13.83 old children. In patients with a hereditary history, prophylactic treatment was initiated earlier than in spontaneous cases. One in 3 treated patients developed FVIII inhibitors, which is the most common treatment complication. All patients underwent genetic testing and were identified for mutations in the F8 gene. The most common is the inversion of intron 22 in the F8 gene. The mothers of 18 of the 21 patients were tested to see if they were carrying the gene that causes hemophilia A. All mothers tested were found to be carriers of the gene. Conclusions. Spontaneous severe haemophilia A accounts for 1/3 of congenital severe haemophilia. The clinical manifestations of spontaneous haemophilia A do not differ from those of hereditary haemophilia: symptoms of bleeding immediately after birth are very rare in both spontaneous and hereditary haemophilia. In all cases of severe haemophilia, significant bleeding symptoms occur within the first 12 months of the infant's life, and clinical suspicion is confirmed by significantly altered selective coagulation laboratoty tests. Genetic mutations in spontaneous hemophilia did not differ from inherited hemophilia. Although the clinical manifestations of spontaneous hemophilia do not differ from those inherited, spontaneous hemophilia is diagnosed twice as late. Treatment in patients with spontaneous severe haemophilia A is initiated significantly later than inherited severe haemophilia A. Diagnosis of haemophilia A, the most common congenital and spontaneous coagulopathy, is not possible in adulthood due to a significant bleeding phenotype. This clinical phenotype is always confirmed by significantly altered coagulation studies. Conversely, this confirms that prolonged APTT is informative in assessing a patient's bleeding history when assessing a patient's risk of bleeding. |
