Phenotypes in Pulmonary Hypertension

Pulmonary hypertension (PH) occurs when blood pressure is abnormally high in the lungs. In a state-of-the-art review published in the European Respiratory Journal, led by CVC faculty member Dr. Jason Weatherald, researchers provide a comprehensive overview of the process of determining PH phenotypes (observable traits that result from both genetic and environmental factors), discuss the progress made in identifying new and distinct phenotypes within current PH clinical classification, and examine some of the uncertainties and challenges linked to overlapping phenotypes in the current classification system.

PH is a heterogeneous condition with varying genetic and pathobiologic mechanisms, clinical characteristics, and outcomes, which is why it has distinct phenotypes. For several decades the diagnosis and treatment of PH has been guided by clinical classification which categorizes patients into five groups according to common pathology, haemodynamics, imaging features, physiology, prognosis, and treatments. Despite these pre-established categories, substantial variation remains within and between groups, and the distinguishing features between some patient groups are less than optimal.

In more recent years, advances in imaging, computation science, and multi-omics have provided novel insights into possible phenotypes and sub-phenotypes within the existing clinical classification. While this next iteration of PH phenotypes has the potential to improve prognostic tools, clinical trial design, and targeted therapies through better patient characterization, further investigation into emerging phenotyping is needed before it can be implemented at patient bedside or in clinical trials.