Hemophilia in the city of Novosibirsk and Novosibirsk region: Clinical phenotype, comorbidity

Abstract

Introduction. Despite the success of current therapeutic approaches and suffi cient supply of clotting factor concentrates, adult patients with hemophilia have a high frequency of developing joint pathologies. Furthermore, an increase in life expectancy has correlated with an increase in the share of patients with concomitant somatic diseases, which are characteristic for this population over the age of 40 years.Aim — to analyze the treatment results of adults with hemophilia living in the city of Novosibirsk and Novosibirsk region and evaluate their orthopedic status, types, frequency of bleeding, and comorbidity structure.Material and methods. A total of 93 patients were enrolled in the study (including 86 patients with hemophilia A and seven patents with hemophilia B). The analysis was carried out separately in subgroups of patients according to age: 18–24, 25–34, 45–44, and over 45 years old. Hemophilia type, severity of disease, strategy of therapy, inhibitor status, and features of concomitant pathology were analyzed.Results. A high frequency of spontaneous bleeding was found in all age groups of patients enrolled in the study (39.6 and 34.9 % during 6 and 12 months, respectively). The average frequency of joint bleeding was 4 cases per person per year in the group of patients aged ≥ 18 years.In evaluation of orthopedic status, it was remarkable that there was a signifi cant number of target joints (262, n = 93), which amounted to 2.8 defected joints per patient (the elbow, knee, and ankle joints were the most frequently involved in pathological process). All patients aged over 18 years with severe and moderate form of disease had a musculoskeletal complication with involvement of one or more target joints.The number of diseases per one patient prevailed in the age group over 45 years old and amounted to 4.12 comorbidities per patient. The prevalent diseases in the structure of concomitant pathology in adult patients with hemophilia were chronic viral hepatitis C (43.1 %, n = 42), stage I–III arterial hypertension (27.9 %, n = 26), stomach and duodenum diseases as well as gallbladder pathology (33.3 %, n = 31 and 26.9 %, n = 25, respectively), urolithiasis and chronic secondary pyelonephritis (21.5 %, n = 20).Conclusion. Despite the use of clotting factor concentrates in patients with severe and moderate hemophilia, the frequency of joint hemorrhages remains high, regardless of the age prophylactic replacement therapy was started. Additional measures must be taken to prevent the appearance of critical disease phenotype with frequent spontaneous bleeding.