What are rare diseases?

El February 28 Is celebrated the World Rare Disease Day. Rare, Minority or Orphan Diseases are those pathologies that affect less than 5 out of every 10.000 inhabitants.

According to World Health Organization (WHO) un 7% of the world population is affected of this type of pathologies that are already estimated at nearly 7.000 different. In Spain it is estimated that there are more than 3 million people with rare diseases.

The characteristics of these pathologies give rise to various problems.

The scarcity of cases hinders research into these pathologies and, therefore, the knowledge that health professionals have about them, becoming poorly understood diseases.

The vast majority are hereditary diseases that usually begin in childhood.

There is a great deficiency of early diagnosis in these pathologies. From the appearance of the first symptoms, in any of these diseases, until the diagnosis is reached, it usually takes about 5 years, reaching 10 years or more in some cases. This late diagnosis has the consequence of not receiving any treatment or in the case of doing so that is not adequate, all this leads to a worsening of the disease.

Rare diseases are characterized by being chronic and degenerative and 65% of them are serious and disabling.

They often require highly specialized genetic studies. They also represent a heavy economic burden for the affected family, which implies having to travel to other provinces in search of professionals specialized in these ailments. All of them suppose an expense that many cannot afford and this prevents the performance of an adequate treatment.

Source WHO and Spanish Federation of Rare Diseases (FEDER)

orphan drugs

They are those that are dedicated to treating conditions so rare that they are not marketed under normal market conditions because the capital invested in their research is generally not recovered.

Rare Respiratory Diseases

Among the 7.000 minority diseases there are some that especially affect the respiratory system. The most notable minority respiratory pathologies are:

-Alpha-1 Antitrypsin Deficiency (DAAT)-Lymphangioleiomyomatosis (LAM)-Cystic Fibrosis (CF)-Idiopathic Pulmonary Fibrosis (IPF)-Pulmonary Arterial Hypertension (PAHT)-Pulmonary Alveolar Proteinosis-Histiocytosis-Scleroderma-Idiopathic Chronic Eosinophilic Pneumonia-Dyskinesia Primary Ciliary-Sarcoidosis

Each of these diseases has differentiating characteristics that can help diagnosis, but poor knowledge of them and the similarity of their signs and symptoms make early diagnosis difficult, such as Chronic Obstructive Pulmonary Disease (COPD) and Asthma.

National Registry of Rare Diseases 

The National Registry of Rare Diseases, dependent on the Rare Diseases Research Institute (IIER), was created with the aim of providing health professionals, researchers, and patients and their families with a higher level of knowledge about the number and geographic distribution of rare diseases. affected patients, in order to promote research on them, increase visibility and favor decision-making for adequate health planning and correct distribution of resources. In addition to creating its own information system to provide patients with general information about their pathology, promote and collaborate in the investigation of these rare diseases.

It is essential that all people affected by this type of disease register. Thanks to this, it will be possible to draw up health plans that will serve as a surveillance system for the disease and will facilitate the development of specific research on the pathology in question.