title: Homozygous familial hypercholesterolemia (HoFH) in Germany: an epidemiological survey.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
authors: MArS Market Access and Pricing Strategy UG (hb), Weil am Rhein, Germany.
authors: S
authors: S
authors: Walzer
authors: K
authors: K
authors: Travers
authors: S
authors: S
authors: Rieder
authors: E
authors: E
authors: Erazo-Fischer
authors: D
authors: D
authors: Matusiewicz
keywords: Germany; epidemiology; homozygous familial hypercholesterolemia (HoFH); survey
references: J Clin Lipidol. 2012 Jul-Aug;6(4):331-9
references: 22836070
references: Clin Biochem Rev. 2004 Feb;25(1):49-68
references: 18516203
references: Atherosclerosis. 2011 Feb;214(2):404-7
references: 21146822
references: J Clin Invest. 2003 Jun;111(12):1795-803
references: 12813012
references: Arteriosclerosis. 1989 Mar-Apr;9(2):211-6
references: 2923577
references: Mol Genet Metab. 2011 Feb;102(2):181-8
references: 21145767
references: Am J Cardiol. 2008 Dec 1;102(11):1438-43
references: 19026292
references: Atherosclerosis. 2001 Feb 15;154(3):557-65
references: 11257256
references: Am J Cardiol. 1999 Dec 1;84(11):1344-6, A7
references: 10614803
references: J Clin Lipidol. 2011 Jun;5(3 Suppl):S1-8
references: 21600525
references: Br Med J. 1980 Sep 6;281(6241):633-6
references: 7437743
references: Neth Heart J. 2011 Apr;19(4):175-182
references: 21475731
references: Arterioscler Thromb. 1994 Jul;14(7):1066-74
references: 8018661