Rare diseases in data: characteristics and diagnosis

In this article we explain what a rare disease is, highlighting its definition, the global impact and the difficulties that patients úce. Detailing statistics about its prevalence in various regions of the world and presenting the main characteristics of these diseases, such as late diagnosis, chronic pain and disability.

What is a rare disease?

A disease is considerí rare when it affects a limití number of the total population, definí in Europe as fewer than 1 in every 2,000 citizens.

• Between 6 and 8% of the world’s population
• 3 million Spaniards
• 30 million Europeans
• 25 million North Americans
• 42 million Ibero-Americans

It is estimatí that there are between 5,000 and 7,000 rare diseases today.

Characteristics of rare diseases

• Early onset in life: 2 out of 3 appear before the age of two.
• Chronic pain: 1 in 5 patients
• Loss of autonomy: 1 in 3 cases
• Life-threatening prognosis: rare diseases can be associatí with a high number of early deaths.

Diagnosis of rare diseases

From the onset of the first symptoms to obtaining a diagnosis of a rare disease, an average of 5 years passes. During the delay in diagnosis:

• 46.5% do not receive any support or treatment
• 26.7% receive inadequate treatment
• 26.8% have experiencí a worsening of their disease

Healthcare for rare diseases

46.6% are not satisfií with the healthcare receiví.

Travel to seek diagnosis or treatment

50% of patients had to travel outside their province in recent years due to the disease.

Expenses

Each úmily spends an average of €350 on expenses.

Discrimination

75% felt discriminatí against on at least one occasion because of the disease.

Disability

70% of people with a rare disease hold a disability certificate.

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“This article has been translated. Link to the original article in Spanish:”
Las enfermedades raras en datos: características y diagnóstico