Rare liver diseases in Egypt: Clinical and epidemiological characterization

Rare diseases (RDs) are category of illnesses afflicting a very small number of people, often known as orphan diseases [1]. These diseases put the local healthcare system under financial, psychological, and medical strain due to their low incidence rates, unusual symptoms, flawed diagnostic criteria, and inadequate treatment alternatives [1]. Rare is a relative term that seems applicable to chronic illnesses but not to acute diseases, especially infectious ones [2]. RDs are widespread, with a large percentage of the population suffering from one or more of them [3]. According to estimates, there are 6000–8000 distinct RDs [3].

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