title: Vascular alterations in apolipoprotein A-I amyloidosis (Leu75Pro). A case-control study.
abstract: BACKGROUND
  Among hereditary amyloidoses, apolipoprotein A-I (APO A-I) amyloidosis (Leu75Pro) is a rare, autosomal dominant condition in which renal, hepatic, and testicular involvement has been demonstrated.
  
  
  OBJECTIVE
  To investigate vascular structural as well as functional alterations.
  
  
  METHODS
  In 131 carriers of the amyloidogenic Leu75Pro APO A-I mutation (mean age 52 + 16 years, 56 women) and in 131 subjects matched for age, sex, body mass index and clinic blood pressure (BP), arterial stiffness (pulse wave velocity, PWV) and carotid intima-media thickness (IMT) were measured.
  
  
  RESULTS
  By definition no differences for age, sex, body mass index, and BP were observed. Meanmax IMT (Mmax-IMT) in the common (CC), bifurcation (BIF) and internal (ICA) carotid artery were comparable in the two groups. After adjustment for high-density lipoprotein cholesterol and renal function differences between the two groups, a lower meanmax-IMT was observed in APO A-I Leu75Pro mutation carriers than in controls (CC Mmax-IMT 0.87 ± 0.21 versus 0.93 ± 0.2 mm, p = 0.07; BIF Mmax-IMT 1.19 ± 0.48 versus 1.36 ± 0.46 mm, p = 0.025; ICA Mmax-IMT 0.9 ± 0.37 versus 1.02 ± 0.35 mm, p = 0.028). On the other hand, aortic stiffness was significantly greater in patients with APO A-I amyloidosis than controls (PWV 11.5 ± 2.9 and 10.7 ± 2.3 m/s, p < 0.05), even after adjusting for confounders.
  
  
  CONCLUSIONS
  In carriers of the amyloidogenic Leu75Pro APO A-I mutation, a significant increase in arterial stiffness is observed; on the contrary, carotid artery IMT is comparable to that of control subjects. These results may add significant information to the clinical features of this rare genetic disorder.
authors.affiliation: a Internal Medicine, Department of Clinical and Experimental Sciences , University of Brescia and Spedali Civili , Brescia , Italy .
authors.forename: Maria Lorenza
authors.initials: ML
authors.lastname: Muiesan
authors.forename: Massimo
authors.initials: M
authors.lastname: Salvetti
authors.forename: Anna
authors.initials: A
authors.lastname: Paini
authors.forename: Claudia
authors.initials: C
authors.lastname: Agabiti Rosei
authors.forename: Giulia
authors.initials: G
authors.lastname: Rubagotti
authors.forename: Alessandro
authors.initials: A
authors.lastname: Negrinelli
authors.forename: Gina
authors.initials: G
authors.lastname: Gregorini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cancarini
authors.forename: Laura
authors.initials: L
authors.lastname: Calabresi
authors.forename: Guido
authors.initials: G
authors.lastname: Franceschini
authors.forename: Laura
authors.initials: L
authors.lastname: Obici
authors.forename: Stefano
authors.initials: S
authors.lastname: Perlini
authors.forename: Giampaolo
authors.initials: G
authors.lastname: Merlini
authors.forename: Enrico
authors.initials: E
authors.lastname: Agabiti Rosei
mesh_terms: D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D016632:Apolipoprotein A-I / Q000235:genetics*; D001794:Blood Pressure; D015992:Body Mass Index; D017536:Carotid Artery, Common / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology*; D059168:Carotid Intima-Media Thickness / Q000706:statistics & numerical data; D016022:Case-Control Studies; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D063177:Pulse Wave Analysis; D012307:Risk Factors; D059289:Vascular Stiffness
chemical_list: D016632:Apolipoprotein A-I
keywords: Aortic stiffness; apolipoprotein A-I; chronic kidney disease; hereditary amyloidosis; intima-media thickness