For the very first time, a study has quantified the number of people affected by rare diseases in the world. Estimated at around 300 million, there are more of these people than researchers thought!
The first study looking at the number of people with a rare disease was piloted by French researchers from Inserm (National Institute for Health and Medical Research). In a press release published on October 26, 2019, the latter commented on their study published a few weeks earlier in the journal European Journal of Human Genetics.
“Rare diseases being poorly understood, one might think that patients are rare. They constitute, as a whole, a large proportion of the population. Even though diseases are individual and particular, they all share rarity, and the consequences that flow from it” said Ana Rath, from the Rare Diseases Platform (Inserm US14-Orphanet).
In Europe, a disease can be considered rare if it affects no more than 5 people in 10,000 . Among these diseases, we find neurofibromatosis but also Batten's disease, Creutzfeldt-Jakob's disease or many amyloidosis. You should also know that there are more than 6,000 rare diseases. Gold, most of them are actually little known, little studied and sometimes even poorly documented.
Researchers from the Inserm US14 unit relied on data concerning point prevalence of 3,585 rare diseases . Rare cancers and other rare pathologies caused by infections (or poisonings) were excluded from their analysis. According to their method, the researchers estimated that at any one time, between 3.5 and 5.9% of the population worldwide was suffering from rare diseases. In sum, this concerns approximately 300 million people, or nearly 4% of the world's population.
That is, rare diseases considered as a whole are not so rare. Based on this observation, the implementation of genuine public health policies concerning these diseases could therefore be justified!
The fact is that the leaders of the study point to the absence of national registers in many countries. It would then be a question of making the patients visible in the system health. This concerns their quantity but also the detail of the diagnoses. The ultimate goal is to allow for better future estimates as well as better support.
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