GET SCIENCE BLOG PATIENT APPS OTHER PFIZER WEBSITES COMPANIES HEALTH RESPONSIBILITY PRESS CAREER RARE DISEASES TO OVERVIEW HOME PAGEHEALTHRARE DISEASES So far, medicine has known around 30,000 diseases. 6,000 to 8,000 of them, the term "rare disease" - English " Rare Diseases" or "orphan diseases" - summarized. According to the EU definition, a disease is considered rare if it occurs in up to five out of 10,000 inhabitants. 1-4 Extrapolated, between 27 and 36 million people in the EU suffer from a rare disease 1 - around 400,000 people are affected in Austria. 3.4 At least half of them are children. And they are all stressed in a special way: Most rare diseases are chronic, and often they are even life-threatening. 80 percent are caused by genetic defects. However, infections and autoimmune processes can also be triggers. Many of the rare diseases are very complex and difficult to diagnose due to unspecific symptoms. Their rare occurrence means that there is often little experience with them in medical institutions, which further complicates diagnosis and treatment. On average, it often takes up to three years or even more until the correct diagnosis is made. 5 5 / 10,000 (MAXIMUM) PEOPLE ARE AFFECTED BY A DISEASE THAT IS REFERRED TO AS RARE ACCORDING TO THE EU DEFINITION. Source: EU Commission expert group on rare diseases ( http://bit.ly/2j497Cb ) ÜBERSICHT AUSGEWÄHLTER SELTENER ERKRANKUNGEN Erkrankung Schätzung der Prävalenz (Orphanet 2011) Anzahl der Patienten in Österreich (geschätzt auf 8,4 Mio EW) Zystische Fibrose (Mukoviszidose) 12 / 100.000 1.000 Hodgkin Lymphom 10 / 100.000 840 Hämophilie (Bluterkrankheit) 7,7 / 100.000 650 Osteogenesis imperfecta (Glasknochenkrankheit) 6,5 / 100.000 550 Amyothrope Lateralsklerose (ALS) 5,2 / 100.000 440 Phenylketonurie 4 / 100.000 340 Empidermilysis bullosa (Schmetterlingskinder) 1-9 / 100.000 500a Idiopathische pulmonal-arterielle Hypertonie (Lungenhochdruck) 6 / 100.000b 500b Creutzfeld-Jakob-Krankheit 2 / 100.000c unbekanntc Übersicht ausgewählter seltener Erkrankungen - Prävalenz und Anzahl an Betroffenen in Österreich (BMG, 2015) a Zahlenangabe lt. DEBRA Austria b Prävalenz der idiopathischen pulmonal-arteriellen Hypertonie gemäß Hubert, M et al. (2006). Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med 173, 1023-1030 c Zahlenwert stellt Inzidenz dar; keine Angabe der Prävalenz möglich, da Betroffene sehr rasch versterben FACTS BROSCHÜREN UND WEITERE INFORMATIONEN 1 EU Commission expert group on rare diseases, http://ec.europa.eu/health/rare_diseases/policy/index_en.htm 2 Eurordis – Rare Diseases Europe, www.eurordis.org 3 Pharmig 4 Bundesministerium für Gesundheit, Nationaler Aktionsplan für seltene Erkrankungen in Österreich 2014-2018 5 Pro Rare Austria 6 Pharmig-Broschüre Arzneimittel für seltene Erkrankungen, 2. aktualisierte Auflage (Stand Februar 2012) 7 Pharmaceutical Research and Manufactures of America (PhRMA), „Rare Diseases - A Report an Orphan Drugs in the Pipeline“, 2013 8 Bundesministerium für Gesundheit, Nationaler Aktionsplan für seltene Erkrankungen 2014-2018, 2015 PP-PFE-AUT-0409 / 01.2018 DATA PROTECTIONCONDITIONS OF PURCHASE - CREDITORSTERMS OF DELIVERY AND PAYMENT - DEBTORSTERMS OF USECONTACTACCESSIBILITYPFIZER WORLDWIDEIMPRINT Copyright © 2018 PfizerLast change: 11.01.2018