Social/economic costs and health-related quality of life in patients with juvenile idiopathic arthritis in Europe.

OBJECTIVE: The aim of this study was to determine the economic burden from a societal perspective and the health-related quality of life (HRQOL) of patients with juvenile idiopathic arthritis (JIA) in Europe. METHODS: We conducted a cross-sectional study of patients with JIA from Germany, Italy, Spain, France, the United Kingdom, Bulgaria, and Sweden. Data on demographic characteristics, healthcare resource utilization, informal care, labor productivity losses, and HRQOL were collected from the questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D-5L) questionnaire. RESULTS: A total of 162 patients (67 Germany, 34 Sweden, 33 Italy, 23 United Kingdom, 4 France, and 1 Bulgaria) completed the questionnaire. Excluding Bulgarian results, due to small sample size, country-specific annual health care costs ranged from €18,913 to €36,396 (reference year: 2012). Estimated direct healthcare costs ranged from €11,068 to €22,138; direct non-healthcare costs ranged from €7837 to €14,155 and labor productivity losses ranged from €0 to €8715. Costs are also shown to differ between children and adults. The mean EQ-5D index score for JIA patients was estimated at between 0.44 and 0.88, and the mean EQ-5D visual analogue scale score was estimated at between 62 and 79. CONCLUSIONS: JIA patients incur considerable societal costs and experience substantial deterioration in HRQOL in some countries. Compared with previous studies, our results show a remarkable increase in annual healthcare costs for JIA patients. Reasons for the increase are the inclusion of non-professional caregiver costs, a wider use of biologics, and longer hospital stays.

Budget impact of rare diseases: proposal for a theoretical framework based on evidence from Bulgaria.

This study aimed to estimate the impact of rare disease (RD) drugs on Bulgaria's National Health Insurance Fund's (NHIF) total drug budget for 2011-2014. While standard budget impact analysis is usually used in a prospective way, assessing the impact of new health technologies on the health system's sustainability, we adopted a retrospective approach instead. Budget impact was quantified from a NHIF perspective. Descriptive statistics was used to analyse cost details, while dynamics was studied, using chain-linked growth rates (every period preceding the accounting period serves as a base). NHIF costs for RD therapies were expected to increase up to 74.5 million BGN in 2014 (7.8% of NHIF's total pharmaceutical expenditure). Greatest increase in cost per patient and number of patients treated was observed in conditions, for which there were newly approved for funding therapies. While simple cost drivers are well known - number of patients treated and mean cost per patient - in real-world settings these two factors are likely to depend on the availability and accessibility of effective innovative therapies. As RD were historically underdiagnosed, undertreated and underfunded in Bulgaria, improved access to RD drugs will inevitably lead to increasing budget burden for payers. Based on the evidence from this study, we propose a theoretical framework of a budget impact study for RD. First, a retrospective analysis could provide essential health policy insights in terms of impact on accessibility and population health, which are significant benchmarks in shaping funding decisions in healthcare. We suggest an interaction between the classical prospective BIA with the retrospective analysis in order to optimise health policy decision-making. Second, we recommend budget impact studies to focus on RD rather than orphan drugs (OD). In policy context, RD are the public health priority. OD are just one of the tools to address the complex issues of RD. Moreover, OD is a dynamic characteristic and compromises the consistency and comparability of the calculated budget indicators.

EPIDEMIOLOGICAL REGISTRY OF NEUROENDOCRINE TUMORS IN BULGARIA--A PILOT SURVEY.

The National registry of patients with neuroendocrine tumors (NET) in Bulgaria was established in 2013 as a joint initiative of the Bulgarian Surgical Society and the Institute for Rare Diseases. The register aims to explore the epidemiology of NET in Bulgaria, as well as the different diagnostic and treatment approaches for the disease throughout the country. This the first of its kind retrospective study of NET in the country is covering the period January 2012 - January 2013. A total of 127 patients with NET were identified. At the time of the survey the average age of patients with NET was 58.61 ± 15.59 years. The data show almost equal distribution between the genders with a slight predominance of women. The largest relative part of NET is those of NET located in the gastrointestinal tract (54.10 ± 4.51%), followed by those located in the pancreas (12.30 ± 2.97%) and in the lungs (10.66 ± 2.79%). In 72.44 ± 3.96% of the patients a immunohistochemical diagnosis was performed. The study confirmed the leading role of the surgery method of the NET management. In 65.83 ± 4.33% of the patients a radical removal of the tumor was conducted, while the relative part of the undertaken partial resection was 7.50 ± 2.40%. A statistically significant association between the type of surgical treatment and during the follow-up of patients was found. An update of the information in the register will allow a more precise determining of the distribution and management of NET in Bulgaria.

General knowledge and awareness on rare diseases among general practitioners in Bulgaria.

Rare diseases are a serious public health problem and are a threat to the health of EU citizens. Important role in the area of rare diseases have the medical specialists who diagnose and monitor the course of the disease of each patient. General practitioners (GPs) are usually the first to identify "unusual" patients that might have a rare disease. The GPs awareness and knowledge about rare diseases is a strong factor for the timely and accurate diagnosis and adequate treatment of rare diseases conditions. A telephone interview was conducted among the GPs in Bulgaria between January and March 2008. A set of 10 questions with pre-defined answers was constructed and offered to the GPs in order to determine their level of knowledge and awareness of rare diseases. Data were statistically processed using specialized software SPSS version 9.0 (SPSS, Inc., Chicago IL). The responses of surveyed doctor indicate a low level of general knowledge and awareness. This means, that GPs from the primary health care system in Bulgaria could not provide sufficient in quality and timeliness specific information to their patients with rare diseases. A campaign for increasing the awareness of GPs about rare diseases is needed.