In the world of medicine, figuring out what's going on with a rare disease is like trying to solve a mystery without all the clues. It's even tougher when the everyday doctor isn't exactly an expert in that specific area. Imagine navigating a maze of symptoms, and professionals are equipped with a general map, but the rare stuff is off in some hidden corners. This article dives into the everyday struggle when regular doctors, who aren't specialists, take on the challenge of diagnosing these rare diseases that are like medical unicorns – rarely seen and tough to pin down.
In the vast landscape of healthcare, rare diseases (RDs) present a complex challenge, affecting a significant 3.5–8% of the population and thus emerging as a pressing public health issue. This number could be misleading since the threshold to consider a disease "rare" often varies from one country to another. Despite the growing pool of knowledge, increased resources, and technological advancements, the diagnosis of RDs remains intricate due to the diverse nature of these conditions. The causes of this diagnostic delay are multifaceted, involving factors like the sheer diversity of RDs, nonspecific symptoms, timing of seeking medical advice, availability of diagnostic tests, and challenges faced by specialists in rendering comprehensive diagnoses without undue delays. The urgency to address this issue is underscored by global initiatives, such as the International Rare Diseases Research Consortium's goal for 2027, aiming for all known RDs to be diagnosed within a maximum of one year from the onset of symptoms. However, scant scientific evidence and reliance on patient associations for data underscore the gravity of the situation. European statistics from EURORDIS and the Spanish Rare Disease Federation (FEDER) paint a vivid picture of the prolonged "diagnostic odyssey," where patients endure a convoluted journey, enduring erroneous diagnoses and enduring years before obtaining accurate information. European statistics estimate that 25% of patients had to wait between 5 and 30 years from early symptoms to diagnosis, and 40% of patients receive at least one erroneous diagnosis at some point during their journey.
In a research work published in 2022, a Japanese team performed a study f to comprehensively explore the experiences of individuals with Hereditary Angioedema (HAE), focusing on the actions taken by HAE patients to alleviate symptoms and the medical care sought during the undiagnosed phase. Secondly, it investigates the pathways leading to their current diagnosis. By analyzing these aspects, the goal was to gain insights into the factors contributing to the prolonged period preceding an accurate HAE diagnosis. The subsequent discussion examines the various elements that contribute to this extended undiagnosed duration. Through these findings, the study aspired to unravel the reasons behind the delayed diagnosis of HAE and, subsequently, contribute to the identification of strategies aimed at reducing the duration of undiagnosed periods for patients with rare diseases. In the results, two pivotal factors contributing to prolonged undiagnosed durations were discerned: (1) patients and medical professionals did not suspect an RD, and (2) when suspicion arose, patients and medical professionals faced challenges in accessing accurate information. In this particular case, many participants lived with symptoms for extended periods without considering the possibility of an RD, only to later, abruptly discover information about HAE and receive a diagnosis. However, a minority of participants persisted in seeking a diagnosis throughout the undiagnosed period.
In Latin America, the undiagnosed patient number is an approximated staggering 75%. This is attributed to various factors, including limited research, sparse patient registration, a shortage of newborn screening tests, and a dearth of effective public policies addressing RDs in Latin America. In developed countries, national departments are in place to cater to the needs of individuals with rare diseases, whereas in Latin America, support predominantly comes from civil associations, federations, and patient groups. Using Peru as a case study, the Peruvian Federation of Rare Diseases (FEPER) received numerous inquiries from undiagnosed individuals seeking assistance. FEPER, an active advocate for those with rare diseases since 2011, directed them to international groups due to the absence of a dedicated state department in Peru for diagnosis assistance. FEPER played a crucial role in helping hundreds of individuals obtain diagnoses abroad. This is not an isolated case, since similar instances can be found in Mexico, Brazil, Colombia, and other countries.
The challenges in diagnosing rare diseases globally are evident, with factors such as limited research, insufficient patient registration, and a lack of effective policies contributing to prolonged undiagnosed periods. Recognizing the potential for improvement, there is a crucial need for knowledge expansion through accessible platforms like the Internet and social media on a global scale. Embracing international collaboration, as demonstrated by initiatives such as those undertaken by FEPER, offers a promising avenue to expedite the diagnostic process. By fostering a worldwide exchange of expertise and leveraging technological advancements, we can collectively work towards achieving faster and more accurate rare disease diagnoses, ensuring that individuals worldwide benefit from timely and effective medical interventions.
Sources
Benito-Lozano, J., López-Villalba, B., Arias-Merino, G., et al. (2022). Diagnostic delay in rare diseases: Data from the Spanish rare diseases patient registry. Orphanet Journal of Rare Diseases, 17, 418. https://doi.org/10.1186/s13023-022-02530-3
Isono M, Kokado M, Kato K (2022) Why does it take so long for rare disease patients to get an accurate diagnosis?—A qualitative investigation of patient experiences of hereditary angioedema. PLoS ONE 17(3): e0265847. https://doi.org/10.1371/journal.pone.0265847
Wainstock, D., & Katz, A. (2023). Advancing rare disease policy in Latin America: a call to action. Lancet regional health. Americas, 18, 100434. https://doi.org/10.1016/j.lana.2023.100434
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