Health. Why is it important to make an early diagnosis for pulmonary arterial hypertension?

Pulmonary arterial hypertension is a key issue in the 4th National Rare Disease Plan, which aims to increase access to expert centers and improve patient care. As Dr. Marianne Riou, a pulmonologist at the Strasbourg University Hospitals, explains, "pulmonary hypertension is defined by an abnormal increase in pressure in the pulmonary circulation."

The specialist clarifies that there is a specific form of pulmonary hypertension. "It's called pulmonary arterial hypertension, or PAH, a rare disease that affects approximately 15 to 50 people per million inhabitants in France." The problem is that the symptoms of this condition are often nonspecific. They are, in fact, common to other diseases, which makes diagnosis difficult.

"Patients are often diagnosed late because this condition is not immediately suspected." This is why it is important for patients and doctors to be vigilant for the main signs. "Including shortness of breath on exertion, unusual fatigue, a persistent and unexplained cough, chest pain, and palpitations."

Provide access to appropriate care as quickly as possible

In pulmonary arterial hypertension (PAH), early diagnosis remains a real public health challenge. Indeed, the time between the first symptoms and the diagnosis of PAH remains more than 2 years. This delay has serious consequences. Because the later treatment is taken, the more advanced the disease is reached by patients. This represents a real loss of opportunity for patients, whose prognosis depends largely on the early onset of appropriate treatment.

"Generally speaking, the patient first consults for persistent shortness of breath," explains Dr. Riou. "The general practitioner tries to rule out an acute cause, then can refer to a pulmonologist or cardiologist who will perform a cardiac ultrasound. If suspected, the patient will then be referred to an expert center for a more in-depth diagnosis." Hence the importance, she insists, for primary care physicians, "to consider, when faced with persistent shortness of breath without an obvious cause, referring their patient to a specialist."

Faced with this complex journey, Maggy Surace, President of HTaPFrance, specifies that "The key challenge is to raise awareness among cardiologists and pulmonologists in the community about the disease, so that they think about quickly referring patients with unexplained dyspnea to the dedicated care network." And Dr. Riou added: “ There is a need to better train healthcare professionals to reduce delays and improve prognosis. »

The importance of care in an expert center

In France, a network of dedicated expert centers provides patients with rapid access to specialized care and appropriate treatments. These facilities ensure optimal monitoring, in collaboration with other healthcare professionals.

"For a rare disease like PAH, treatment at an expert center is essential," says Dr. Riou. "Diagnosis relies on a specific test—right heart catheterization—which requires advanced expertise and isn't feasible everywhere. In these centers of excellence that we are fortunate to have in France, the teams are trained in this complex pathology."

The result: a confirmed diagnosis, precise identification of the cause, and treatments adapted to each case. Thanks to the territorial network of these competence and reference centers, spread throughout the country, including overseas, each patient can benefit from specialized monitoring, close to home, and from care and access to innovative treatments.

"We are very fortunate in France to have an excellent treatment system for rare respiratory diseases and several treatments that can significantly improve our quality of life. It is therefore crucial that we, as patients, have access to them as early as possible." adds Maggy Surace.