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

Authors Walzer S, Travers K, Rieder S, Erazo-Fischer E, Matusiewicz D

Received 21 January 2013

Accepted for publication 20 February 2013

Published 3 May 2013 Volume 2013:5 Pages 189—192


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

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S Walzer,1 K Travers,2 S Rieder,3 E Erazo-Fischer,3 D Matusiewicz4

1MArS Market Access and Pricing Strategy UG (hb), Weil am Rhein, Germany; 2United Biosource Corporation, Lexington, USA; 3Alcimed GmbH, Cologne, Germany; 4Institute for Health Care Management and Research, Faculty of Economics and Business Administration, University of Duisburg-Essen, Essen, Germany

Introduction: In Europe a disease is recognized as rare if less than 1 in 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.

Keywords: epidemiology, homozygous familial hypercholesterolemia (HoFH), Germany, survey

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