The association Amiloidosis Visible, the Balearic Association in Amyloidosis (ABeA), the Valverdeña Association of Andrade’s Disease (ASVEA) and the Canary Association of Andrade’s Disease (ACEA) have promoted a new report that focuses on the delay in the diagnosis of amyloidosis and calls for strengthening the training of Primary Care (AP) doctors, together with other measures to shorten these times.
The document "Amyloidosis in Spain: A reality hidden by underdiagnosis", presented this Friday at a day held in the Congress of Deputies on the occasion of World Amyloidosis Day, seeks to give visibility to this group of rare pathologies and to promote the implementation of public policies that improve the quality of life of affected people, who in Spain amount to around 16,500, according to the report itself.
The neurologist and coordinator of the Neuromuscular Diseases Unit of the Hospital Clínico de San Carlos (Madrid), Lucía Galán, has recalled that amyloidoses share a "similar" pathogenic pathway. "In the end, what is happening is that a protein that folds incorrectly is deposited in different tissues and those tissues are damaged," she pointed out.
At the day, it was emphasized that there are more than 100 types of amyloidosis, although Galán specified that the most common are AL amyloidosis; transthyretin amyloidosis, both hereditary and non-hereditary; and AA amyloidosis. For most patients there are available therapies that, although not curative, do achieve significant improvements. "For this reason, early diagnosis is so important," she insisted.
The report details that the average period until obtaining a diagnosis is between 14 and 18 months, with marked differences according to the amyloidosis variant. In AL amyloidosis the interval is usually less than six months, while in wild-type transthyretin amyloidosis the average ranges between two and five years. In hereditary forms, diagnosis is usually brought forward in endemic areas, but outside them it can be delayed more than a year.
Towards a more early diagnosis
Galán has explained that the difficulty in achieving an early diagnosis is related to the systemic nature of many cases, which can damage several organs and cause the patient to access the health system through "different doors", the most frequent being the Primary Care consultation.
"The Primary Care doctor often does not have the knowledge, and even does not have the means to diagnose a disease that can manifest itself in such diverse ways and that requires specific tests," he has said.
He added that even for specialists the process can be complex, since patients may come in with cardiac, neurological, hematological, renal or digestive symptoms, among others.
To overcome these barriers and move toward an earlier diagnosis, Galán, in line with the roadmap set out in the report, proposes defining "warning signs" that facilitate clinical suspicion. She has also underscored the need to give greater visibility to amyloidosis and to strengthen doctors' training so that they consider this pathology in their daily practice.
Likewise, the neurologist has highlighted that artificial intelligence (AI) can become a support tool for healthcare professionals and help raise "the alarm" in certain patient profiles.
Disparate criteria and lack of a registry
The president of Amiloidosis Visible, José Manuel Pérez Díaz, has gone into the findings of the report, the "first" specific study on amyloidosis in Spain, prepared from a survey of more than 40 clinical specialists and information from 12 autonomous communities.
Pérez has stressed that one of the main shortcomings detected is the absence of unified criteria among autonomous communities to name the different types of amyloidosis. For this reason, the report calls for the launch of an agreed classification and coding system that will make it possible to correctly identify cases throughout the health system.
The document also raises the urgency of creating a national registry of amyloidosis and, in a broader sense, of rare diseases. Like Galán, Pérez emphasizes awareness and the training of the professionals involved in the diagnosis and management of the disease and, in particular, of Primary Care doctors, where, in his view, the "real delay" in obtaining the diagnosis occurs.
In addition, she has called for promoting the creation of multidisciplinary specialized amyloidosis units in reference hospitals throughout the territory, as well as structuring a national network of reference centers. "These units must have clear clinical protocols and coordinated care pathways among specialties," she has highlighted.
Finally, she has warned that treatments for some forms of amyloidosis are "very expensive" and has criticized the "restrictive" rules of the Ministry of Health when it comes to authorizing new medications.
With this report, the associations aim to "promote a political and health response that transforms the lives of people with amyloidosis," as the president of the Association Balear en Amilodosis, Catilena Bibiloni, has emphasized.