Patient Perspectives and Clinical Insights Into the Diagnostic Journey From Connective Tissue Disease to Pulmonary Arterial Hypertension

Plain Language SummaryPeople with connective tissue disorders (CTDs), like systemic lupus erythematosus (SLE), mixed CTD, and systemic sclerosis (SSc), are at risk for a lung condition called pulmonary arterial hypertension (PAH). Since PAH gets worse over time if it is not treated, it is important for anyone with PAH to be diagnosed and treated with medication as early as possible. This article describes the experiences of 4 adults who have CTD and PAH, including their journey of being diagnosed with CTD and then PAH, which healthcare providers they saw, and the types of information they were given to learn about their conditions. All 4 people described having a rash as their first symptom of CTD, and said their symptoms got worse over time, which made them see their primary care provider. Two people felt their doctor dismissed their symptoms. Everyone was eventually referred to a rheumatologist or dermatologist and diagnosed with a type of CTD: 1 had SLE, 2 had mixed CTD, and 1 had SSc. Only 1 person was told that having a CTD meant they had a higher risk of getting PAH. It took between 2 and 11 years after their CTD diagnosis to be diagnosed with PAH, all while they were at risk for more intense PAH symptoms. The group recommended better education for doctors and support staff about CTD, so that they are able to screen their patients for PAH, recognize the disease, and quickly refer patients to PAH specialists at accredited pulmonary hypertension centers for further testing.