XII Meeting of Minority Diseases.
The round table has been directed by Rosario Sanchez Martinezmember of the Multidisciplinary Unit of Low Prevalence Diseases in the Internal Medicine Service of the General University Hospital of Alicante; Y Xavier Solanitchmember of the Service of Internal Medicine in the Bellvitge University Hospital.
A collective approach to solving ethical dilemmas
The ethics is key in the approach to rare diseases, as explained by Daniel Lopez Wolfmember of the Internal Medicine Service of the Alcorcón Foundation University Hospital: “Sometimes dilemmas arise in which some basic principles conflict and we do not know which of them is preponderant in rare diseases. Ethical dilemmas arise in this type of pathology, which are related to the clinical characteristics. The first area in which they arise is genetics. You have to make a proper genetic counseling at all times”.
López: “The first area in which ethical dilemmas arise is in genetics”
To find the best solution from an ethical point of view, López defends “putting a balance on patients to analyze the benefit and the risk that some therapeutic interventions. We are also concerned about the high cost of treatments. We could think of a confrontation between the principles of beneficence and the principle of justice. It is a problem that requires a collective approach, so the individualized therapeutic strategy must always be chosen.”
Development of specific targets
Advances in the management of autoinflammatory diseases is another of the talks held at the round table. Angel Robles Marhuendainternist at La Paz University Hospitalexplains that “what has indeed meant progress is the importance of innate immunity from autoinflammation. As the years have gone by, there has been a boom in knowledge, such as what the inflammasome is, knowing the importance of its terminal stimulator and understanding the development of specific targets for these diseases.
When dealing with this disease, Robles assures that “there are patients who do not fall within the definition of these pathologies because they have a much more complicated situation. Some therapies, such as CAR-T they have served to save many patients with leukemia or difficult lymphoma. The auto-inflammation scenario will be present throughout our daily lives in the coming years and we will have to use molecules to control it”.
Diagnosis, Achilles heel in Immunodeficiency
Peter Moralesspecialist La Fe University Hospitalin Valencia, highlights the advances in the Common Variable Immunodeficiency: “We have a problem in the diagnosissince the patient feels symptoms until it is already diagnosed is afternoon. Patients walk past us and we are not identifying them. Diagnostic tools are currently imperfect.”
Moral: “Patients pass us by and we are not identifying them”
As the internist relates, in this type of disease “a delay in diagnosis is synonymous with a worse prognosis. We have little tools specific ones that focus on infectious manifestations. We need a more in-depth study analyzing the patient from an asymptomatic point of view, analyzing her family history, etc.”
New classifications in vascular diseases
Finally, the approach to rare vascular diseases It has also been a topic to be discussed at the meeting and has been explained by Adriana Iriarte Fusterinternist at Bellvitge University Hospital: “The typical birthmarks They have always been present in our history. These vascular diseases range from simple birthmarks to possible pathologies that can be fatal.”
Within all the various vascular diseases, Iriarte is committed to “using classification schemes to provide diagnoses and do targeted treatment. Many classifications have been made over the years, and genetics has recently played an important role in defining this aspect.”
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