For a patient with a rare disease, the disease is a persistent confrontation with subjects like the acceptance of their condition, competent medical care and, frequently, social security issues. The difficulties mainly include access to specialised centres, diagnostic investigations, and the availability of appropriate information for the patient – in the sector of rare diseases these factors constitute a challenge in terms of time, content, and costs.

What is pulmonary hypertension? 

Pulmonary hypertension is a condition in which there is high blood pressure in the lung arteries. How the disease starts is not always clear, but the arteries become narrow and there is less room for the blood to flow.

Over time, some of the arteries may stiffen and become completely blocked. The narrowing of the pulmonary arteries causes resistance to the blood flow, increasing the blood pressure. The right side of the heart has to work harder to pump blood through the arteries. This places an increasing strain on the heart, which causes it to enlarge and can lead to right heart failure.

Right heart failure is one of the most common causes of death in people who have pulmonary hypertension.

What are the first symptoms or signs of the disease?

Patients mention that their frame of mind deteriorated very severely within a short period of time as well as that they were feeling unable to pursue sports due to breath shortness and gained weight. 

How does patient arrive at the diagnosis?

"The common symptoms could be associated with the common diseases of the heart or of the lungs. The key assessment to detect PAH is to make echocardiography which is the ultra sound of the heart and then it is necessary to exclude or to confirm lung diseases." 

Prof Pavel Jansa

Attending doctor

Pulmonary hypertension is a serious rare disease. Most general physicians have little training and experience in PH diagnosis and treatment. Therefore, patients are encouraged to see a PH specialist, who is normally pulmonologist or cardiologist who has been trained specifically in PH at a pulmonary hypertension center. 

Univ. Prof. Irene Lang, MD

"The time taken to establish the correct diagnosis of chronic thromboembolic pulmonary hypertension is on average about 14 months. However, the disease process starts much earlier – at a time when nobody has any idea about pulmonary hypertension. I know of one case that took 30 years to turn into a manifested disease."

Univ. Prof. Irene Lang, MD

How do you treat your patients?

"We try to salvage the right heart by means of vasodilatation (dilatation of blood vessels). If the treatment succeeds it is very efficient and unburdens the right ventricle by reducing pressure.

I try to convince patients of the aggressive method because we have some patients who, today, are apparently “normal”.

Univ. Prof. Irene Lang, MD

Professor Irene Lang is a clinical cardiologist and a professor of vascular biology at the Medical University of Vienna. She heads an out-patient clinic for pulmonary vascular diseases and works in the sector of interventional cardiology.

The specialist also heads a basic research laboratory for investigating the biology of vascular obstructions. The main focus is chronic thromboembolic pulmonary hypertension.

What helps to cope with the disease? 

Finding out that one has a serious, rare, chronic disease can turn the world upside down. 

Coping with this situation requires not only early diagnosis, medication and therapy. A compelx approach helps to cope with this challenge - this might involve physical exersicing, psychological hygiene, support of friends and family, participation in the activities of patient organsiations etc. 

"I think this is a complex disease and therefore it requires complex approach. First of all it is important to have an early diagnosis and correct medication. Then it is also important to have regular adequate physical activity. Another important aspect is to take care of mental health since PAH is a chronic disease. Having work, connection to friends and family, following hobbies - this all is supportive in coping with this disease."

Prof Pavel Jansa

Importance of Real Data & Registries

European Reference Networks are virtual networks involving healthcare providers across Europe. They aim to tackle complex or rare diseases and conditions that require highly specialised treatment and a concentration of knowledge and resources. 

There are 24 ERNS involving 25 European countries included Norway, over 300 hospitals with over 900 healthcare units and covering all major disease groups! 

"Creating database on international level is a positive trend. For example European Reference Network collects the data and helps to put it together from 17 PAH expert centers across Europe. It is essential approache for successful treatment and research."

Prof Pavel Jansa

PAH and Pregnancy

Despite advanced therapies, pregnancy is not recommended in patients with PAH diagnosis since this is a very big stress for the cardio-vascular system. 

At the same time it is not a dogma and patients can be stratified in a low and high risks groups. 

Video Interview Prof Jansa 

Referring to the International PAH Awareness Day on May 5, 2020 we had a chance to talk with Prof Jansa, MD, PhD, Chief of the Centre for Pulmonary Hypertension at the Department of Cardiology and Angiology, General University Hospital in Prague about PAH, its diagnosis, everyday life and current COVID-19 situation.

Prof Pavel Jansa, MD, PhD  is Chief of the Centre for Pulmonary Hypertension at the Department of Cardiology and Angiology, General University Hospital in Prague, and Associate Professor at the First Faculty of Medicine, Charles University, Prague. He is vice-chairman of the Working Group on Pulmonary Circulation of the Czech Society of Cardiology. His research interests include epidemiology of pulmonary arterial hypertension, coagulation disorders in pulmonary hypertension, and small-vessel disease in chronic thromboembolic pulmonary hypertension. 

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