¿Qué tan raras son las enfermedades raras?
¿Por qué importa?
Rare diseases are not common as individual syndromes in themselves. Some of them affect only a handful of people worldwide. Others, such as Síndrome de Down, are more prevalent and affect thousands of people. Generally, in the US, a rare disease is one which affects less than 200,000 people.
Sin embargo, con 7000 actualmente diagnosticado, y más identificados y nombrados todo el tiempo, actualmente hay entre 25 y 30 millones de estadounidenses con una genética síndrome. Esto no tiene en cuenta a los que no son diagnosticados, debido a leves síntomas, diagnóstico incorrecto y solo falta de conciencia sobre cómo podría ser una enfermedad genética.
They may be uncommon, as patients of individual conditions, but collectively rare disease patients are not a small amount of people.
Often they are also called orphan diseases, or a zebra disease. This is because there is a lack of research into their causes and symptoms, and not much is generally understood about them. This can make them difficult to diagnose, and leave many patients stranded in what is known as a diagnostic odyssey.
But the more we understand about them, the more accurately we can diagnose them, and the more we understand about rare disease causes, the more we can empower individuals and families when it comes to their genetic health.
Greater rare disease awareness means ensuring that patients get the support and possible treatment they need, faster.
Predominio
Many rare diseases are prevalent in less than 1 in 1 million people. Examples of these include Kleefstra syndrome, LEOPARD syndrome, and Witteveen-Kolk syndrome.
Sometimes the exact prevalence is unknown, as many people are undiagnosed or wrongly diagnosed, a common issue when it comes to genetic diagnosis. Ehlers Danlos syndrome, and the 13 known types of it, is one example of a condition that is commonly misdiagnosed, and for which it is believed there are possibly large numbers of undiagnosed affected individuals.
For some diseases, even an approximate estimation of their prevalence is as yet unknown. Syndromes with currently unknown prevalence include Warburg Micro syndrome, Urofacial syndrome, Temple syndrome, and Adams-Oliver syndrome.
Algunos son más frecuentes en comunidades específicas o entre etnias específicas. Esto incluye Tay-Sachs, que es más común en aquellos con ascendencia judía asquenazí europea.
Las figuras
Lo desglosamos a continuación:
| Enfermedades raras | Prevalencia aproximada |
| Síndrome de Turner | 1 en 2,000 |
| Síndrome de deleción 22q11.2 | 1 en 4-7,000 |
| Síndrome de Angelman | 1- 12-20,000 |
| Síndrome de Joubert | 1 en 20,000 |
| Síndrome de Kabuki | 1 en 30-80,000 |
| Síndrome del nevo de células basales | 1 en 60,000 |
| Síndrome de Silver-Russell | 1 en 100,000 |
Aún queda mucho por aprender sobre las enfermedades raras, tanto en términos de sus causas como síntomasy cuanto más aumentamos este conocimiento y comprensión, más capacitamos a los pacientes con una diagnóstico genéticoy el soporte adecuado.
