Time from Symptoms to Definitive Diagnosis of Idiopathic Pulmonary Arterial Hypertension: The Delay Study

Abstract

Survival rates for patients with idiopathic pulmonary arterial hypertension (IPAH) have improved with the introduction of PAH-specific therapies. However, the time between patient-reported onset of symptoms and a definitive diagnosis of IPAH is consistently delayed. We conducted a retrospective, multi-center, descriptive investigation in order to (a) understand what factors contribute to persistent diagnostic delays, and (b) examine the time from initial symptom onset to a definitive diagnosis of IPAH. Between January 2007 and December 2008, we enrolled consecutively diagnosed adults with IPAH from four tertiary referral centers in Australia. Screening of patient records and “one-on-one” interviews were used to determine the time from patient-described initial symptoms to a diagnosis of IPAH, confirmed by right heart catheterization (RHC). Thirty-two participants (69% female) were studied. Mean age at symptom onset was 56 ± 16.4 years and 96% reported exertional dyspnea. Mean time from symptom onset to diagnosis was 47 ± 34 months with patients subsequently aged 60 ± 17.3 years. Patients reported 5.3 ± 3.8 GP visits and 3.0 ± 2.1 specialist reviews before being seen at a pulmonary hypertension (PH) center. Advanced age, number of general practitioner (GP) visits, heart rate, and systolic blood pressure at the time of diagnosis were significantly associated with the observed delay. We found a significant delay of 3.9 years from symptom onset to a diagnosis of IPAH in Australia. Exertional dyspnea is the most common presenting symptom. Current practice within Australia does not appear to have the specific capacity for timely, multi-factorial evaluation of breathlessness and potential IPAH.

An epidemiological analysis of the burden of chronic thromboembolic pulmonary hypertension in the USA, Europe and Japan

“…In one study, HELD et al [68] reported a mean delay from symptom onset to diagnosis of CTEPH of 18±26 months, with most patients presenting with World Health Organization (WHO) FC III or IV. The second study in patients with PAH also identified a significant deterioration in FC associated with a prolonged time between patient-described symptom onset and diagnosis of PAH by right heart catheterisation, which the authors considered could potentially impact on mortality [69], although it should be considered that the natural history of PAH is not the same as that of CTEPH. The consequence of late diagnosis is that treatment options may become limited due to comorbidities and organ damage, and the patient's quality of life may be severely compromised [70].…”

Prevalence of Anxiety and Depression in Pulmonary Hypertension and Changes during Therapy

“…An additional reason for the improvement in mood might also be the fact that patients were relieved as they finally got diagnosed with the disease after a sometimes long duration of symptoms and uncertainty. PH is a disease that usually has a long latency period, with a high level of suffering before the diagnosis is definite [6]. Patients may have also adapted to coping strategies with the disease after confirmation of the diagnosis.…”

“…Due to unspecific initial symptoms, PAH diagnosis is usually delayed from the onset of symptoms between 1.5 and 4 years [6,7]. This prolonged duration to diagnosis can lead to anxiety, depression and stress.…”

Clinical Diagnosis of Pulmonary Hypertension

“…On the other hand, despite a perceived increased recognition of the disease in recent years, the time between patient-reported onset of symptoms and a PAH diagnosis remains considerably delayed. 6 The NIH registry conducted in the 1980s of incident PAH cases demonstrated that patients were predominantly young (mean age of 36 at presentation) and female (1.7:1) and had idiopathic, familial, or anorexigen-associated PAH. The observed 1-, 3-, and 5-year survival of 67%, 45%, and 37%, respectively represented the natural history of the disease untreated, because no therapies for PAH existed at that time.…”