Quality of life of patients with alkaptonuria

The aim of the study was to study the quality of life of patients with alkaptonuria.Material and methods. The study included 50 patients with a reliable diagnosis of alkaptonuria aged 18 to 78 years (mean age 58.2±10.8 years). Among them, men predominated (n=31; 62%), in most cases (98%) complaining of pain in the joints and/or spine. For the first time, the articular syndrome debuted at the age of 17 to 39 years (average age of debut – 29.4±4.76 years). The duration of clinical manifestations of the disease before diagnosis ranged from 7 to 47 years (mean 23.35±8.17 years). 74% of patients had a disability group. In the study cohort, the body mass index (BMI) was slightly higher than normal values and averaged 28.18±4.95 kg/m2. The quality of life of patients was assessed using the EuroQol-5D questionnaire (EQ-5D).Results. The quality of life corresponding to a satisfactory state of health according to EQ-5D was observed in 56% of patients. Their quality-of-life index (LQI) values were more than 0.5. 22% of patients had 0<LQI≤0.5. In some cases, LQI≤0 was detected. In groups with 0<LQI≤0.5 and 0.5<LQI≤1.0, a slight predominance of men was revealed (54.5 and 57.1%, respectively). In the group with LQI<0, these differences were more pronounced, the proportion of men was 81.8% (p<0.01). When comparing the data of this group with the parameters of the most prosperous patients (0.5<LQI≤1.0), statistically significant differences were observed in mobility (p=0.018), personal care (p=0.018), performance of actions in everyday life (p=0.003), pain and discomfort (p=0.003). LQI of patients with alkaptonuria negatively correlated with age (r=–0.38; p<0.01) and the need to use crutches (r=–0.58; p<0.01). Endoprosthetics (at least one large joint) was performed in half (54%) of patients.Conclusion. In adult patients with alkaptonuria, a significant deterioration in the quality of life was revealed, which is primarily due to damage to the spine and large joints with the need for endoprosthetics in half of the patients. LQI was extremely low, its median was 0.34 [0.02; 0.56] at a norm of 1. Along with traditional tools for assessing joint damage in patients with alkaptonuria, it seems appropriate to use the EQ-5D questionnaire, which reflects various parameters of the quality of life: from the ability to perform actions in everyday life to the severity of pain and depression, which allows screening to receive information about the functional capabilities of patients and develop individual tactics for the provision of medical care, including timely surgical treatment