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Pulmonary hypertension (PH) – a rare incurable disease with a lengthy diagnosis

It takes an average of 14 months to diagnose pulmonary arterial hypertension (PAH). PAH is classed as a rare disease and is a form of pulmonary hypertension (PH) that particularly affects the smallest arteries. November is PH awareness month and aims to draw attention to this incurable chronic disease, which often has non-specific symptoms. From early 2022, the pharmaceutical company AOP Orphan, which is based in Vienna, will be packaging a medicinal product for PAH patients* in the Austrian capital.

Vienna, 18 November 2021. In Europe, a disease is described as a rare or orphan disease when less than five in 10,000 people are affected. More than 7000 of the approximately 30,000 known diseases worldwide are rare diseases. Around 36 million people in Europe suffer from a rare disease, including around 400,000 in Austria.1

November is PH awareness month

Usually chronic, orphan diseases can be life-threatening and most have no cure. Diagnosis is often challenging, difficult and lengthy, which is why it is even more important to raise awareness of the symptoms. It is also why the focus in November will be fully on pulmonary hypertension (PH). In PH, damage to the smallest blood vessels in the lungs causes their blockage. As the disease progresses, the heart constantly gains muscle mass until it can no longer pump sufficient blood into the lungs for oxygen uptake. If untreated, the disease can cause right heart failure.

Incurable chronic disease with a lengthy diagnosis

Pulmonary arterial hypertension (PAH) is a subtype of pulmonary hypertension in which the causal changes occur almost exclusively in the arteries of the pulmonary vasculature. PAH affects around 15 people per million people worldwide. Symptoms of PAH are non-specific and can include the following: dyspnoea on exertion, which means shortness of breath during strenuous physical activity; tiredness; fatigue; chest pain; and an increasing abdominal girth. Although the treatment available for PAH has progressed considerably in recent years, PAH is still an incurable2. It takes an average of fourteen months until PAH is diagnosed. However, the disease process will have started much sooner.

“The less specific the symptoms of a disease are, the lengthier and more difficult the diagnosis. Those affected by PAH often do not even view the symptoms as an illness initially, or in the worst-case scenario are not taken seriously by those around them. In many cases, this means that the disease is not detected until it is in a very late stage,” explains Georg Fischer, physician and CEO of AOP Orphan. But even after diagnosis, many PAH patients are faced with uncertainty, as Eva Otter, Board Member of PHA Europe, explains: “After diagnosis, it is a question of finding the right treatment for patients. In my case, it was two years until that happened.“

Those affected must completely change their lifestyle3

If a patient is diagnosed with PAH, they must adapt their lifestyle to the new circumstances. Strenuous physical activity should be avoided since the lungs can no longer provide the body with the necessary oxygen requirements. At the same time, it is important to maintain muscle strength and encourage circulation. In addition to medical treatment, healthy eating also becomes more important. The patient's diet should be rich in trace elements, fibre and vitamins; salt intake should be reduced. Alcohol should only be consumed in small amounts and both active and passive smoking should be entirely. It is also important to check the body weight at regular intervals, preferably always at the same time of day. This is because sudden increases in body weight can be a sign of deterioration of heart and kidney function. Pregnancy poses a high risk in women suffering from PAH and must be discussed with a doctor. 

From early 2022, AOP Orphan will be packaging PAH medicine in Vienna

A pioneer in Europe in the area of rare and complex diseases, AOP Orphan researches, develops and distributes innovative solutions worldwide. Based in Vienna, since the very beginning the company has been committed to Europe, manufacturing 80 percent of its products here. To continue to improve patient treatment, the company will be opening its own packing plant in Vienna in early 2022, following certification by BASG – the Austrian Agency for Health and Food Safety. From that moment on, a medicine for PAH patients in all countries where the product is authorised will be packaged in Vienna.  

The development of orphan drugs started to gain in importance at the turn of the millennium

When AOP Orphan was founded in 1996, orphan drugs – medicines that were specially developed to treat rare diseases – were still a niche product. Passed on 22 January 2000, the EU regulation on orphan medicinal products significantly boosted the research, development, and distribution of medicinal products in the area of rare diseases. “To continue to provide patients with innovative products in the future, all those involved, whether in research funding, licensing, or reporting, must be on the same page. We need to have a mutual understanding of innovation, uniform rules in the European market and a research site in Austria that values local expertise,” says Andreas Steiner, Group CEO, AOP Orphan International AG.

The treatment options for those affected by rare diseases are often unsatisfactory or have not yet been approved. There is no treatment for 95 percent of rare diseases. The development of ideas and solutions in the area of rare diseases requires an international network. Only by pooling expertise can the necessary actions be defined, and sustainable measures be put in place. 

AOP Orphan Pharmaceuticals GmbH is an international pharmaceutical company focusing on rare and special diseases. Based in Vienna, the company has branches and representatives throughout Europe and the Middle East and has become an established provider of integrated therapies. This is thanks, on the one hand, to ongoing large-scale investment in research and development and, on the other hand, to a consistent, pragmatic focus on the needs of all involved – patients and their relatives in particular, but also the doctors and nursing staff treating them.

Press contact for queries
AOP Orphan Pharmaceuticals GmbH 
Leopold-Ungar-Platz 2, 1190 Vienna 
Nina Roth 
+43 676 3131509 
nina.roth@aoporphan.com

Questions and answers

What is pulmonary hypertension (PH)?

The term pulmonary hypertension is used when the average arterial blood pressure in the artery of the lung – the pulmonary artery – increases to more than 25 mmHg at rest (normal value: <20 mmHg). The narrowing of the blood vessels in the lung causes the blood pressure to rise. As a result, the heart must work harder to pump enough blood through the constricted lung vessels, which gradually get narrower and stiffer.

There are several subcategories of PH, including the following:

  • PAH

PAH (pulmonary arterial hypertension) is a special form of PH.  

Pulmonary arterial hypertension (PAH) comprises a group of diseases that are characterised by the proliferation – increased cell production – and remodelling of the distal pulmonary arteries. The deterioration of the pulmonary blood vessels means that the right ventricle has to work harder, which leads to right-sided heart failure.

  • CTEPH

Chronic thromboembolic pulmonary hypertension (CTEPH) is another form of PH. It is characterised by thrombi – blood clots – repeatedly entering the arteries of the lung; these are referred to as pulmonary embolisms. These clots block the vessels, causing them to become partly or completely constricted, and alter the connective tissue (remodelling). This often leads to pulmonary hypertension with a poor prognosis. CTEPH is rare and goes undetected in more than fifty percent of cases.

What are the special features of rare diseases?4

Nearly all genetic disorders are rare diseases, but not all rare diseases are caused by genetic factors. Rare diseases include, for instance, some very rare infectious diseases, rare forms of autoimmune disorders and even rare cancers.  

Most causes of rare diseases are still unexplained. For many diseases the first symptoms may occur shortly after birth or in early childhood. In around 50% the first symptoms occur in adulthood.

Characteristics of rare diseases:  

  • over half of the diseases occur in children; nearly all are caused by genetic factors;
  • many rare diseases are virtually unknown; very few specialists exist for these;
  • the road to a correct diagnosis is long and frequently spans a period of several years;
  • for the majority of the diseases (more than 95%) there are, to date, no specific treatment options.