The challenge of diagnosing autoimmune and low-prevalence diseases: clinical experience is as crucial as technology in their treatment

The diagnosis of autoimmune and low-prevalence diseases remains one of the greatest challenges in modern medicine. Their heterogeneous nature, the lack of specific tests and the similarity of their symptoms to those of common pathologies largely explain the delays in their identification. This is explained by Dr Andrés González García, an internist at the Family Medicine Unit of Ruber Internacional Hospital and an expert in systemic autoimmune diseases, who stresses the importance of clinical experience and a comprehensive approach in these patients.

‘These diseases can start with fever, fatigue, skin rashes or joint pain, and be confused with common conditions such as infections,’ says the specialist. Generalised ignorance, coupled with the absence of conclusive biomarkers, results in underdiagnosis and delays that directly impact patients' quality of life.

The problem is exacerbated by diffuse or non-specific symptoms, such as extreme fatigue, low-grade fever, or weight loss, which can lead to multiple medical consultations without a clear result. ‘This causes frustration in patients, who feel that nothing is wrong with them. Only continuous monitoring and a comprehensive view allow us to distinguish the trivial from the serious,’ says Dr. González.

High resolution image. This link will open using lightbox, there may be a context switchDr. Andrés GonzálezDr Andrés GonzálezIn addition, patients often receive partial or erroneous diagnoses in the early stages, as they are evaluated by different specialists without a comprehensive view. In this context, a second medical opinion takes on decisive value. ‘It is not a question of mistrusting the doctor, but of confirming that the diagnosis and treatment plan are appropriate,’ he says.

Dr Andrés González insists that the approach in experienced centres makes a difference: coordinated multidisciplinary teams, greater familiarity with diagnostic uncertainty and access to innovative therapies. ‘Experience is as important as technology,’ he emphasises.

With regard to treatment, medicine is moving towards individualised plans, adapted to each patient's progress and combining traditional drugs, targeted therapies and supportive measures. In recent years, biological drugs have marked a turning point, improving quality of life and reducing complications.

The Ruber Internacional specialist also highlights the importance of close follow-up and regular monitoring, not only to prevent relapses or irreversible damage, but also to provide emotional support to patients, validating their experience and facilitating psychological and associative support. ‘We don't just treat organs, we treat people who need to feel understood and accompanied,’ the doctor reminds us.

Looking to the future, Dr. González points to three major challenges: speeding up diagnosis through biomarkers and artificial intelligence, ensuring equitable access to new therapies, and strengthening referral networks between expert hospitals. All of this must be done with the patient's participation in clinical decisions. ‘The future of these diseases lies in personalised and preventive medicine, which combines science, technology and humanity,’ he concludes.