Abstracts by keywords: X-linked hypophosphatemia (XLH)
Rare diseases form a heterogeneous group of mostly complex clinical pictures. They often take a chronic course, accompanied by disability and/or reduced life expectancy, and often lead to symptoms as early as childhood. About 80% of the rare diseases are genetic or partly caused, they are rarely curable (BMG 2019) (Orphanet 2020) (Fig. 1). Due to the rare occurrence of familial hypophosphatemic rickets - including XLH - and the insufficient data in Germany, the aim of this health services research was to collect epidemiological data and to present the health care situation and pharmacoepidemiology of patients with a confirmed E83.30 ICD-10 diagnosis. For the retrospective analyses, routine data and billing data from statutory health insurance (GKV) were used, which are becoming increasingly important in health services research (Neubauer et al. 2014).