Diagnosis of Rare Diseases: a scoping review of clinical decision support systems

摘要

In the European Union (EU), a disease is declared as “rare “if no more than 5 out of 10,000 people are affected [1]. It is estimated that about 7000 different rare diseases (RDs) exist. According to the World Health Organization (WHO), about 400 million people are affected [2]. Many RDs are severe, chronic and life-threatening [3, 4]. 80% of RDs are of genetic origin and pre-dominantly affect children [5–9]. For instance cystic fibrosis as a rare lung disease occurs in the first years of the childhood and is associated with an average life expectancy of 40 years [10]. Other RDs like amyotrophic lateral sclerosis, a degenerative disease of the central and peripheral nervous system, can occur later in life and lead to death within a few years [11]. A big challenge in the management of RDs is finding the right diagnosis. Patients with RDs are sometimes diagnosed too late or not at all. They report many years of a diagnosis odyssey [4].