Understanding Delays in the Diagnosis of Pulmonary Arterial Hypertension and Rare Diseases in Brazil: A Multicenter Observational Study
\--- Pulmonary arterial hypertension (PAH) is a rare, progressive, and life-threatening disease that affects the arteries of the lungs and the right side of the heart. Early diagnosis is essential to initiate appropriate treatment and improve patient outcomes. However, worldwide studies show that there is often a significant delay between the onset of symptoms and the final diagnosis. This delay may lead to disease progression and worse survival.
This multicenter observational study aims to understand the time from the first symptoms to the diagnosis of PAH and other rare diseases across several Brazilian reference centers. By analyzing medical records and patient journeys, the investigators intends to identify factors contributing to delayed diagnosis and potential opportunities for earlier detection.
The study includes adult patients diagnosed with PAH or other selected rare diseases within the last five years. The investigators will analyze time to diagnosis, number and type of physicians consulted, tests performed, and possible misdiagnoses. Our goal is to support the development of strategies that reduce diagnostic delay and improve access to specialized care for people living with rare diseases.
This study does not involve any intervention and poses no additional risk to participants, as it is based solely on retrospective data from medical records.
Availability of documented or estimated date of first symptom suggestive of PAH.
Availability of documented date of confirmed PAH diagnosis.
Patients with pulmonary hypertension not classified as Group 1 (e.g., due to left heart disease, chronic lung disease, or chronic thromboembolic disease).
Patients with insufficient data to determine either the date of symptom onset or the date of confirmed diagnosis.
Patients diagnosed only clinically or by echocardiography, without confirmation by right heart catheterization.
The study population consists of adult patients diagnosed with Group 1 Pulmonary Arterial Hypertension (PAH), confirmed by right heart catheterization, who are followed at specialized pulmonary hypertension referral centers in Brazil. Eligible participants must have documented or estimated date of symptom onset and a recorded date of confirmed diagnosis. The study includes patients from diverse geographic regions and healthcare settings to reflect real-world diagnostic practices.
Cohort
Other
There will be no intervention
Other interventionThere will be no intervention
Time from Symptom Onset to Confirmed Diagnosis of Group 1 Pulmonary Arterial Hypertension
This outcome measures the time interval (in months) between the patient's first reported symptom potentially related to pulmonary arterial hypertension and the date of confirmed diagnosis by right heart catheterization. Data will be collected through retrospective review of medical records and/or prospectively documented clinical follow-up.
Number of Physicians Consulted Before Diagnosis
This outcome captures the total number of different physicians (general practitioners and specialists) consulted by the patient between symptom onset and confirmed diagnosis of PAH. This helps identify possible fragmentation or delays in referral.
Number of Misdiagnoses Prior to Final PAH Diagnosis
This outcome measures how many alternative or incorrect diagnoses the patient received before receiving the definitive diagnosis of PAH. These may include asthma, anxiety, heart failure, or others.
Functional Class at Diagnosis
This outcome records the patient's World Health Organization (WHO) functional class at the time of confirmed diagnosis of PAH. Functional class is a strong prognostic indicator and reflects disease severity at the time of diagnosis.
Time from First Medical Contact to Diagnosis
This outcome evaluates the delay attributable to the health system by measuring the time (in months) between the patient's first consultation with a healthcare provider and the date of PAH confirmation.
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