Elisabeth Minder, MDProfessor and Honorary Consultant, Department of Endocrinology, Diabetology, Porphyria at Triemli City Hospital
Having a training in internal and in laboratory medicine, we build up a Swiss reference center for the diagnosis and treatment of porphyria since more than 3 decades. The diagnostic part includes biochemistry as well as molecular genetics. Besides we performed patient-related research projects having partners in Switzerland and in many other countries including France, Germany, Italy, Poland and the USA, resulting in 93 publications per reviewed journals as listed in Pubmed.
In our outpatient clinics we see all types of porphyria. The number of Swiss patients diagnosed with a porphyria increases from year to year, resulting in more than 12 new diagnosis per year, which is exceptionally high in such rare diseases and taking into account that the total Swiss population is only 8.2 Mio. Taken both symptomatic as well as asymptomatic patients together, we care for more than 500 cases in total.
We are further active within the porphyria patient organizations, including both Swiss as well as those of other countries. Here we have especially regular contacts with the German organizations and we contributed active in the last international patient day, 2019, in Milan.