title: Apheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia.
abstract: BACKGROUND
  Homozygous familial hypercholesterolemia (HoFH), which affects 1 in a million individuals, leads to extremely elevated levels of cholesterol and early-onset cardiovascular disease.
  
  
  OBJECTIVE
  The aim of this study was to assess all 7 HoFH patients treated with low-density lipoprotein (LDL) apheresis in Norway with respect to quality of life, clinical and laboratory assessments, and cardiovascular status.
  
  
  METHODS
  Apheresis treatment and assessment of cardiovascular status was performed at local hospitals but coordinated by the Lipid Clinic that has followed all patients since diagnosis. Quality of life was evaluated by a validated questionnaire.
  
  
  RESULTS
  Results are shown as median (min-max). LDL cholesterol at diagnosis (untreated) was 704 (592-1268) mg/dL (18.2 [15.3-32.8] mmol/L). Medication was initiated at age 9 (2-35) years, and apheresis treatment at age 10 (6-44) years. Regular once-weekly apheresis combined with the maximum-tolerable doses of a statin and ezetimibe reduced LDL cholesterol to 197 (170-282) mg/dL (5.1 [4.5-7.3] mmol/L) pre-apheresis and 85 (50-108) mg/dL (2.2 [1.3-2.8] mmol/L) post-apheresis. Calculated interval mean LDL cholesterol was 162 (135-220) mg/dL (4.2 [3.5-5.7] mmol/L). Duration of apheresis treatment was 11 (1-24) years. Cardiovascular manifestations progressed in most patients despite the apheresis treatment. The subjects' quality of life was comparable with that of a healthy population, with the exception of two patients, who were significantly affected by coronary disease.
  
  
  CONCLUSIONS
  Well-tolerated, once-weekly LDL apheresis achieves lower interval mean LDL cholesterol levels between apheresis treatments than previously reported for apheresis every second week. However, progressions of cardiovascular manifestations still occurred, which highlights the importance of earlier and even more aggressive treatment and follow-up in HoFH.
authors: Vestfold Indremedisinske Senter, Sandefjord, Norway.
authors: Asgeir
authors: A
authors: Græsdal
authors: Martin Prøven
authors: MP
authors: Bogsrud
authors: Kirsten Bjørklund
authors: KB
authors: Holven
authors: Marit S
authors: MS
authors: Nenseter
authors: Ingunn
authors: I
authors: Narverud
authors: Gisle
authors: G
authors: Langslet
authors: Magne
authors: M
authors: Brekke
authors: Kjetil
authors: K
authors: Retterstøl
authors: Kjell-Erik
authors: KE
authors: Arnesen
authors: Leiv
authors: L
authors: Ose
mesh_terms: D000293:Adolescent; D000328:Adult; D000924:Anticholesteremic Agents / Q000627:therapeutic use; D001384:Azetidines / Q000627:therapeutic use; D001781:Blood Component Removal; D002648:Child; D002675:Child, Preschool; D008078:Cholesterol, LDL / Q000097:blood; D003327:Coronary Disease / Q000517:prevention & control; D000069438:Ezetimibe; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D008875:Middle Aged; D009664:Norway; D011788:Quality of Life; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D000924:Anticholesteremic Agents; D001384:Azetidines; D008078:Cholesterol, LDL; D000069438:Ezetimibe