title: Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.
abstract: OBJECTIVE
  Pseudoxanthoma Elasticum (PXE), an autosomal recessive disease due to mutations in ABCC6 gene, is characterised by fragmentation of elastic fibres with involvement of the cardiovascular system. We investigated a 60-year-old female with angina pectoris found to have PXE, associated with elevated plasma LDL-C suspected to be due to autosomal-co-dominant hypercholesterolemia.
  
  
  METHODS
  ABCC6, LDLR, PCSK9 and exon 26 of APOB genes were re-sequenced. Cardiovascular involvement was assessed by coronary angiography, single-photon emission computed tomography (SPECT) and ultrasound examination.
  
  
  CONCLUSIONS
  The patient was a compound heterozygous for two ABCC6 mutations (p.S317R and p.R1141X) and heterozygous for a novel LDLR mutation (p.R574H). She had severe coronary stenosis and calcification of the arteries of the lower limbs. Treatment with ezetimibe/simvastatin 10/60mg/day, maintained over a 4.5-year period, reduced of LDL-C and the myocardial ischemic area. In PXE patients LDL-lowering treatment might contribute to delay macrovascular complications.
authors.affiliation: Department of Internal Medicine, University of Genoa, I-16132 Genoa, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Pisciotta
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarugi
authors.forename: Claudia
authors.initials: C
authors.lastname: Borrini
authors.forename: Antonella
authors.initials: A
authors.lastname: Bellocchio
authors.forename: Raffaele
authors.initials: R
authors.lastname: Fresa
authors.forename: Deanna
authors.initials: D
authors.lastname: Guerra
authors.forename: Daniela
authors.initials: D
authors.lastname: Quaglino
authors.forename: Ivonne
authors.initials: I
authors.lastname: Ronchetti
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Calandra
authors.forename: Stefano
authors.initials: S
authors.lastname: Bertolini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003324:Coronary Artery Disease / Q000209:etiology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D008875:Middle Aged; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D011561:Pseudoxanthoma Elasticum / Q000150:complications*; D012308:Risk Management
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human