Assessment of disability in patients with alkaptonuria

Background. Alkaptonuria is an orphan, autosomal recessive disease in which clinical symptoms debut in adulthood and are characterized by progressive degenerative changes in large joints (knee, hip, shoulder) and the spine, often leading to the need for joint replacement. Developing changes often lead to persistent disability. The purpose of this study was to evaluate disability among adult patients with alkaptonuria. Materials and methods. The study included 46 adult patients (31 m 67.4% and 15 w 32.6%) with a reliable diagnosis of alkaptonuria at the age of 20 to 76 years (avg age 56.83 10.52). The assessment of the presence of a disability group at the time of patients treatment to a rheumatologist was carried out. Results. It turned out that disability was determined in 34 (75.6%) patients, there were no signs of persistent disability in 11 patients (24.4%). Among the patients who had signs of persistent disability, most often during the survey period, group 2 disability was established (61.8%), the differences between this and other groups were statistically significant (p 0.05). For the first time, disability in the study cohort of patients was established at the age of 31 to 59 years (the average age was 50.83 5.5 years). Conclusions. It is important to note that in the vast majority of cases, persistent disability occurs in patients who were of working age, which underscores the importance of alkaptonuria as a medical and social problem.