Autoinflammatory Diseases: 80 Conditions with Common Challenges
Autoinflammatory diseases area group of rare, complex, and still poorly understood conditions characterized by recurrent episodes of inflammation that can severely impact the quality of life of those who suffer from them. Although scientific advances have made it possible to identify a growing number of these diseases, significant challenges remain in areas such as diagnosis, access to resources, and comprehensive care.
Although familial Mediterranean fever is the most common autoinflammatory disease and the first to be described, there are currently about 80 known conditions in this group. Our understanding of them has grown exponentially thanks to advances in genetics and immunology. “Twenty years ago, only four autoinflammatory conditions were known, and now there are about 80, ” explains Cuca Paulo.
“Twenty years ago, only four autoinflammatory diseases were known, and now there are about 80,” explains Cuca Paulo.
This growth in scientific knowledge has made it possible to identify diseases that, just a few years ago, didn't even have a name. As the association's president explains, this progress also helps us understand why many patients have spent decades without answers.
“We have members whose condition was first described just two years ago. It’s impossible to receive a diagnosis for something that isn’t yet known,” he says.
In this regard, keep in mind that autoinflammatory diseases are relatively new conditions from a scientific standpoint, which is why it is essential for healthcare professionals to stay up to date.
A group of conditions with common challenges and characteristics.
These rare diseases share common characteristics: they are systemic, involve recurrent episodes of inflammation and fever, and, in many cases, have a genetic origin. One of their distinctive features is that flare-ups occur without any apparent cause, which makes them difficult to identify and manage.
Furthermore, many of these conditions have been described in the last 10 years, a fact that continues to affect the time it takes to reach a diagnosis. “We have patients with diagnostic delays spanning decades because some of these diseases weren’t even known a few years ago, ” he notes.
Pain and Fatigue: Symptoms That Affect Daily Life
Although each disease has its own specific manifestations, there are common symptoms that significantly affect patients’ quality of life. Chronic pain, persistent fatigue, and sleep disturbances are some of the most common consequences. These may be compounded by digestive, joint, respiratory, skin, or eye problems, depending on the type of autoinflammatory disease.
“Clinical variability and the absence of obvious signs have led to some patients—especially women—being initially diagnosed with other conditions, further delaying their access to appropriate care,” says Cuca Paulo.
Despite scientific advances, people with autoinflammatory diseases continue to face significant challenges. Among these, the president of Stop Autoinflamatorias-FMF highlightsdelayed diagnosis, a lack of awareness about these conditions, and inequalities in access to genetic testing and treatments.
It also emphasizes the need for “multidisciplinary and coordinated care that integrates different specialties, as well as greater psychological and social support.”
“We need multidisciplinary, coordinated care that brings together different specialties, as well as greater psychological and social support,”says Cuca Paulo.
Given their multisystemic nature, Cuca Paulo emphasizes that autoinflammatory diseases require the involvement of various medical specialties. Specifically, Internal Medicine, Rheumatology, Immunology, Genetics, Pediatrics, and Psychology are some of the disciplines that may be involved in patient care.
For the association’s president, one of the major challenges is “moving toward more coordinated care that is focused on each person’s actual needs”. Another aspect she highlights is the transition from pediatric units to adult care, a stage that “still lacks specific regulations in Spain.”
The Value of Peer Support
At Stop Autoinflamatorias-FMF, they believe that patient organizations play a vital role in reducing isolation and supporting families in their day-to-day lives. “An informed and supported patient manages their condition better, and that also benefits the healthcare system itself, ” says Cuca Paulo.
For this reason, the organization emphasizes the importance of healthcare professionals being aware of and recommending patient associations as a complement to medical care. “It is essential that healthcare professionals recommend these associations because everyone benefits: patients, professionals, and the system, ” it notes in this regard.
An organization focused on comprehensive care
The association is currently working on several priority areas: raising awareness of autoinflammatory diseases, strengthening psychological and social support, promoting training for healthcare professionals, ensuring equitable access to diagnosis, and participating in research projects. It is also committed to strengthening the patient community and fostering meaningful participation by those affected in decision-making.
In this regard, she points out thatincorporating the patient’s voice goes beyond mere formal representation: “We don’t want anyone to speak for us. As patients, we have to be present and truly say what we need. Often, it’s not what others think we need, but what we actually experience in our day-to-day lives, ” she asserts.
The association also works on developing materials tailored to patients and their families. “In many cases, the available information is overly technical and difficult to understand. Often, the information exists, but it needs to be translated so that it’s truly useful to people living with these diseases, ” she says.
“As patients, we have to speak up and really say what we need ,” she emphasizes.
The president of Stop Autoinflamatorias-FMF also warns of the difficulties faced by patient organizations: “Growing bureaucracy, a lack of stable funding, and the heavy workload borne by many boards of directors are jeopardizing their continued existence. If things are working at all, it’s thanks to the enormous effort of volunteers.”
“Let no one feel alone”
Despite the challenges, the association remains committed to its primary mission: to improve the quality of life for people with autoinflammatory diseases and ensure that “no one is left behind.”“We want no one with an autoinflammatory disease to feel alone, and we want them to have access to early diagnosis, appropriate treatment, and the support they need, ” concludes Cuca Paulo.
