Homozygous familial hypercholesterolemia (HoFH) in Germany: an epidemiological survey

Introduction: In Europe a disease is recognized as rare if less than 1in 2000 people suffer from the specific disease. In patients with familial homozygous hypercholesterolemia (HoFH) the accumulation of low-density lipoprotein cholesterol (LDL-C) leads to generalized - atherosclerosis due to an insufficient functioning of the LDL-C receptors. Patients die early sometimes even in the mid-30s, from - myocardial infarction or stroke. For the German population, insufficient epidemiological evidence exists. Methods: A systematic literature search in EMBASE and Medline was performed in - conjunction with a targeted manual search for epidemiological HoFH studies. Additionally a nationwide survey was conducted in Germany in all identified apheresis- and lipid centers. The purpose of the survey was the validation of the systematic literature search results based on empirical (practice) data. Results: In total 961 publications were found, 874 were excluded based on pre-defined exclusion criteria leaving only 87 for further review. After review of the identified abstracts (n = 87) 23 publications were identified as epidemiological studies. Only one publication was found which reported a prevalence of 1: 1,000,000. The qualitative survey among 187 physicians in Germany also revealed a low prevalence: 95 HoFH patients were identified in 35 centers. Conclusion: The estimated frequency of homozygous familial hypercholesterolemia patients in Germany is around 95 (1: 860,000) and the disease should be recognized as rare according to the definition of the European Medical Agency.