Avaliação do perfil clínico-terapêutico e da resposta à profilaxia dos portadores de Hemofilia A e B em um centro de referência no Ceará

Abstract

Hereditary hemophilias are chronic coagulopathies of recessive origin, characterized by the absence or abnormal production of FVIII, in Hemophilia A, or FIX, in Hemophilia B. The main clinical manifestation of hemophilia is hemorrhages, most common in the joints, which occur spontaneously or as a result of trauma. The treatment is through the prophylaxis protocol, which consists of making venous infusions of the deficient factor, however, there is the possibility of the appearance of inhibitors against the coagulation factors, impairing the treatment and requiring the immunotolerance protocol (ITI). Therefore, the objective of this study was to know the clinical-therapeutic profile and evaluate the response to prophylaxis in patients with hemophilia A and B in outpatient follow-up at the Center for Hematology and Hemotherapy of Ceará. To this end, the type of study was a retrospective cohort, in which data were collected from medical records and data from the Web Coagulopathies system of patients who were undergoing prophylaxis protocol in the years 2016 to 2021. Data from 133 patients diagnosed with hemophilia were obtained, obtaining the profile of the patients, which states that 119 (89.5%) were affected by hemophilia A, 124 (93.25%) had the severe form of the disease, 75 (55.6%) were on the secondary prophylaxis protocol, 103 (77.5%) were using recombinant Factor VIII, 112 (84.2%) were infusing the factor 3 times a week, 117 (88.0%) used a dose between 20 and 40 IU/Kg and 101 (75.9%) had already been on the prophylaxis protocol for 5 to 10 years. With regard to joint impairment, 16 (12.1%) of the patients have target joint and 61 (45.9%) have arthropathy. Regarding family history, 61 (45.9%) of the patients had confirmed cases of hemophilia in the family, the most frequent age groups in patients were 10 to 19 years (24.1%) and 20 to 29 years (24.1%) and 60 (45%) of the patients were residents of Fortaleza, however, the municipality with the highest incidence of hemophilia was Guaiúba (29.06). Regarding the bleeding rate of patients, 89 (66.9%) did not have hemarthrosis during the year 2021, 117 (87.9%) patients did not have target joint and 73 (54.9%) did not have arthropathy. However, patients on tertiary prophylaxis had a higher average bleeding rate (1.79 ± 0.523), a higher average dose of infused factor (28.91 ± 0.864) and a higher percentage of patients with target joints (21.1%) and arthropathy (86.8%). Through Pearson's correlation, it was observed that the longer the prophylaxis time, the lower the factor dose used. All (100%) of the patients who developed inhibitors and underwent the ITI protocol were affected by severe Hemophilia A, 12 (92.31%) were on the secondary prophylaxis protocol and 11 (84.62%) were completely successful in the protocol of ITI. Among these patients, 11 (84.62%) do not have target joint and 12 (92.31%) do not have arthropathy. The presence of a current inhibitor was only identified in 1 (7.69%) patient, while the presence of a family history of hemophilia was seen in 3 (23.08%) of the patients studied. The mean dose of coagulation factor used by patients who underwent ITI was 24.35 ± 1.280, which is lower than the dose used by patients who did not, which was 28.08 ± 0.5783. Using a ROC curve, it was possible to perceive, with 67.79% accuracy, that individuals who use higher doses of factor may need to use ITI. With this study, it was possible to evaluate the clinical-therapeutic profile of hemophiliac patients who were on the prophylaxis protocol.