title: Homozygous familial hypercholesterolemia: Summarized case reports.
abstract: Homozygous familial hypercholesterolemia (hoFH) is a rare genetic disorder with potential severe atherosclerosis in the pediatric age.
  
  
  
  We report on 9 patients with hoFH, who had been diagnosed within the last 30 years and who were consequently treated with apheresis and drugs.
  
  
  
  Two deaths occurred: one at age 36 years and the other at age four and a half years before effective treatment was commenced. All other patients are still in good clinical condition today, although four of them have proven aortic stenosis or arterial plaques.
  
  
  
  Our case report highlights that adequate treatment should start as early as possible to delay the onset of clinical manifestations of atherosclerosis. It can be assumed that the introduction of new drugs can improve the outcome and possibly lengthen the life expectancy of patients affected by hoFH.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria. Electronic address: kwidhalm@gmx.at.
authors.forename: Kurt
authors.initials: K
authors.lastname: Widhalm
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
authors.forename: Ina Michel
authors.initials: IM
authors.lastname: Benke
authors.affiliation: Hospital Feldkirch, Department of Pediatrics, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Fritz
authors.affiliation: Pediatric Care, Dornbirn, Austria.
authors.forename: Harald
authors.initials: H
authors.lastname: Geiger
authors.affiliation: Institute for Medical Sciences, University of Aberdeen, UK.
authors.forename: Oliver
authors.initials: O
authors.lastname: Helk
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
authors.forename: Maria
authors.initials: M
authors.lastname: Fritsch
authors.affiliation: Department of Laboratory Medicine, Medical University of Vienna, Austria.
authors.forename: Gregor
authors.initials: G
authors.lastname: Hoermann
authors.affiliation: Department of Biochemistry, Medical University of Graz, Austria.
authors.forename: Gerhard
authors.initials: G
authors.lastname: Kostner
mesh_terms: D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001317:Austria; D015415:Biomarkers / Q000097:blood; D001781:Blood Component Removal; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood*; D003131:Combined Modality Therapy; D003324:Coronary Artery Disease / Q000235:genetics / Q000517:prevention & control*; D042241:Early Diagnosis; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D000924:Anticholesteremic Agents; D015415:Biomarkers; C573412:LDLR protein, human; D011973:Receptors, LDL; D002784:Cholesterol
keywords: Early treatment; FH; LDL-apheresis; Lp(a)