Quality of life in patients undergoing regular replacement therapy due to congenital immunodeficiency and hemophilia

Objective: Chronic rare diseases comprise a group of disorders that have a negative impact on life span and quality of life due to their complex diagnosis, treatment, and follow-up. In our study, we aimed to investigate the mental health and quality of life in patients with two groups of rare diseases who receive lifelong intravenous replacement therapy: congenital (primary) immunodeficiency and hemophilia. Materials and Methods: The study included 32 hemophilia patients were on prophylactic factor replacement 2-3 times a week, and 34 primary immunodeficiency (PID) patients who received intravenous IVIg replacement at the outpatient clinics 3-4 weeks, and compared them with a control group of 31 age-matched healthy individuals. Each subject was assessed using the Beck Depression Inventory, Fatigue Severity Scale, and EQ-5D-5L scales. Results: The Beck Depression Inventory scores were similar among the PID, hemophilia, and control groups. Regarding the Fatigue Severity Scale, hemophilia patients and healthy controls showed similar scores, while PID patients had significantly higher scores compared to both groups. EQ-5D index of the CID and hemophilia groups had similar scores, but both had significantly lower quality of life results when compared to the healthy group. The EQ-5D-5L score of the hemophilia group had significantly higher scores than the PID group in the mobility, self-care, and usual activities categories. Both disease groups had significantly higher scores than the control group in the mobility, usual activities, and EQ VAS categories. Conclusion: The fact that the depression scale in the two rare diseases was similar to the healthy group may be explained by the fact that the disease is chronic and the patients adapt to the daily life over time. The finding that the fatigue score was significantly higher in the PID group may be related to the acute phase response caused by frequent infections in immunodeficient patients. The lower overall quality of life in haemophiliacs may be attributed to the fact that these patients have limited mobility due to joint disabilities and have difficulty in performing daily activities. Keywords: Rare diseases, primary immunodeficiency, hemophilia, quality of life , replacement therapy