Exploring the potential of a precision medicine approach in PAH in a new study

This new study of pulmonary arterial hypertension (PAH) among women examined the combined symptoms of different disease phenotypes to see where they overlap and ultimately to define ‘symptoms’ according to the combination of symptoms and characteristics.

The ability to predict symptom exacerbation and disease outcome in Pulmonary arterial hypertension The PAH space can benefit from the three symptomatic cluster phenotypes identified in a new study Posted in pulmonary circulation.

Investigators identified cluster phenotypes of mild (n = 28; 47%), moderate (n = 20; 33%), and severe (n = 12; 20%) symptoms among the study group of women whose mean age (SD) was 50.6 (17.8) years and those who reported non-Hispanic White (51%), Non-Hispanic Black (32%), White (Hispanic) (10%), and Asian (7%) races. According to the World Health Organization (WHO) Group I criteria, the most common PAHs among the 60 women studied were idiopathic disease (38%), connective tissue disease (35%), and congenital heart disease (12%). Forty-five percent had functional WHO grade II disease and 47 percent had functional WHO grade III disease.

The study population was given a cross-sectional study population with pulmonary arterial hypertension symptom scale (PAHSS), Pittsburgh sleep quality index (PSQI), multidimensional dyspnea profile (MDP), patient-reported outcome measurement information system (PROMIS), physical function, PROMIS related to sleep Weakness, swelling 10. They also underwent several tests: transthoracic echocardiography, phlebotomy, 6-minute walk, and motility examination.

“Women with PAH present with multiple symptoms, including shortness of breath, fatigue, and disturbed sleep, which impair health-related quality of life (HRQOL),” the study authors wrote. “The objectives of this study were to identify ‘symptoms’ by symptom cluster phenotypes and to compare characteristics such as biomarkers, cardiac structure and function (echocardiography), functional capacity (6 min walking distance) and HRQOL between groups.”

They used the variables of shortness of breath, fatigue, and sleep disturbance to define each of the symptom groups.

Overall, significant associations were seen between dyspnea and fatigue (ρ = 0.638; s < .001), shortness of breath and disturbed sleep (ρ = .531; s <.001), sleep disturbance and fatigue (ρ = 0.655; s <.001).

Cluster analysis revealed that clusters of mild, moderate, and severe symptoms had similar ages, races/ethnicities, and a PAH-type event. The ages were 49.4 (21.2), 52.7 (15.8), and 50.0 (11.9) years old, respectively; 50%, 55%, 50% were white; The two most common types of PAHs were idiopathic (39%, 35%, 42%) and connective tissue disease (32%, 45%, 25%).

The groups differed significantly, however, in the following disease characteristics: WHO functional category (s <.001), norepinephrine levels (s = .029), right atrial pressure (s = .001), physical function (s < .001), sleep onset response time (P = .040), and HRQOL (s <.001). Among the echocardiographic variables evaluated, only right atrial pressure was associated with the severity of the symptom cluster.

Deterioration of self-reported HRQOL and levels of physical function was more common in moderate and severe phenotypes, elevated depression and levels were more common in severe phenotype, NT-proBNP levels were significantly higher in moderate and severe phenotypes, sleep-onset latency was more common in phenotype Virtual acute.

The authors conclude, “Given the importance of symptoms to patients with PAH, our findings could provide a useful framework for future diagnostic, predictive, clinical trials and treatment models, even if our data requires confirmation in larger cohorts.” “Patients can be screened to determine their membership of the symptomatic cluster phenotype to better suit symptom management interventions, with a ‘precision medicine’ approach to symptom management.”

Because the results of their study could be limited by the study group of all women, they emphasized that future studies should focus on men, because although PAHs are rare among these patients, the results are usually worse. Their findings should also be validated in larger, longitudinal studies with more diverse populations.


Matura LA, Fargo JD, Boyle K, et al. Symptomatic phenotypes of pulmonary arterial hypertension: “symptoms” of PAH. Pull Circ. Published online September 6, 2022. doi: 10.1002 / pul2.12135

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