Inborn Rare Diseases with Multiorgan Involvement – a challenge in Adult Internal Medicine: Fabry Disease as an example

Abstract

Hereditary rare diseases are often serious and progressive. They affect small numbers of the population and specific issues occur in relation to their rarity. In particular, patients with rare diseases experience a significant delay between the occurrence of the symptoms and the correct diagnosis.
On one hand, the field of rare diseases suffers from a deficit of awareness and partly of scientific knowledge. On the other hand, appropriate treatment and medical care can improve quality of life of the affected persons and extend their life expectancy. Because the achievements in medical care increasingly improved over time, the life expectancy of patients with rare diseases is increasing, so that more and more adult patients with inborn disorders leave children hospitals and enter adult medical facilities. Moreover, to date, thousands rare diseases have been described in medical literature. The European Organization for Rare Diseases (EURORDIS) estimates that as many as 5,000 to 7,000 distinct rare diseases exist, and as much as 6% to 8% of the population of the European Union is affected by one. So that, taken together, rare diseases are frequent. Although impressive progress has already been made for certain diseases, the risk stratification, personal and family counselling, evaluation for treatment and even still a correct diagnosis in some of the patients remain an unmet clinical need.
In my Department, I regularly see patients with rare inborn disorders, such as Fabry Disease, Pseudoxanthoma elasticum, Birt-Hogg-Dube syndrome, Cowden syndrome, juvenile hemochromatosis, Marfan syndrome and others. Due to my long-standing clinical and research interest for rare diseases, I regularly provide regular medical care to those frequently neglected patients.