PAH Patients with Rare Disease Subtypes in Need of Better Research, Treatment

Despite increased attention on pulmonary arterial hypertension (PAH), information on treatments for those patients with rare conditions — Eisenmenger syndrome or PAH with adult congenital heart disease (ACHD) — is lacking. Two physician-researchers who addressed this are advising these patients be followed in tertiary academic centers to increase their enrollment in clinical trials, and that they be under constant evaluation by experts.

The study, “Pulmonary Arterial Hypertension In Congenital Heart Disease: Current Perspectives And Future Challenges,” published in the Hellenic Journal of Cardiology, reviewed the current situation of PAH-ACHD patients.

“The design and completion of numerous multicenter randomized controlled trials and the development of new compounds has led to enhanced survival prospects and an improved quality of life for patients with PAH,” the doctors, George Giannakoulas and Michael Gatzoulis, wrote. “However, the majority of randomized controlled studies excluded patients with Eisenmenger syndrome, namely, PAH related to bidirectional or right-to-left congenital heart shunts.”

Several questions must be addressed to provide appropriate care for these patients, they reported. For instance, more data is needed to understand the incidence rates of PAH in ACHD. The exact number of patients with Eisenmenger syndrome across the world is still unknown.

Also, more information is necessary on the natural history and appropriate management of children with PAH, who have been reported to have worse outcomes compared with adults, and how to best take care of PAH patients with Down syndrome, who compose up to a third of the Eisenmenger syndrome cohort.

It is also not clear whether PAH-ACHD patients should be treated with a goal-oriented strategy (as has been proposed for idiopathic PAH), and what these treatment targets should be, or what should be the main endpoints of clinical trials directed at these patients.

Moreover, clinicians still don’t know the optimal use of antiplatelet and oral anticoagulation therapy in Eisenmenger patients, who tend to develop thrombosis and bleeding, or how exactly they should prescribe other therapies, such as physical rehabilitation, exercise prescription, iron supplements, and long-term oxygen therapy.

“There is a need to strengthen the networking between ACHD-PAH expert centers, build multicenter collaborations and facilitate randomized trials with the aim of increasing the sample size,” they said.

They said such efforts would provide answers to several of these questions, and contribute to improved care for PAH-ACHD patients.