title: Increased vascular occlusion in patients with pseudoxanthoma elasticum.
abstract: Pseudoxanthoma elasticum (PXE) is an autosomal recessive inherited multisystem disorder of the connective tissue caused by a loss-of-function mutation of the ABCC6 gene. It can affect the cardiovascular system, presumably leading to a high prevalence of atherosclerosis.
  
  
  
  46 PXE patients and 18 controls underwent an angiological examination consisting of measurement of ankle-brachial index (ABI), strain-gauge arterial reserve (SGAR), arterial resting perfusion, pulse wave index (PWI), central pulse wave velocity, and ultrasound examination.
  
  
  
  With an average age of 51.4 ± 12.4 years, 35/46 (76.1 %) of the PXE patients had atherosclerotic lesions, and 10 of them (28.6 %) had a chronic vascular occlusion of one or more peripheral vessels. 34/46 (73.9 %) had a pathologic ABI < 0.9, 15/42 (35.7 %) had a pathological SGAR < 10 mL/100 mL tissue/min, and 23/38 (60.5 %) had a pathological PWI > 180. The differences between the groups were statistically significant for ABI, arterial reserve, and PWI.
  
  
  
  In PXE patients atherosclerosis was found with a much higher prevalence than expected. Moreover, they were at very high risk for total vessel occlusions. .
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.|a These authors contributed equally.
authors.forename: Simon
authors.initials: S
authors.lastname: Pingel
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.|a These authors contributed equally.
authors.forename: Kristin Solveig
authors.initials: KS
authors.lastname: Pausewang
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Sebastian Gorgonius
authors.initials: SG
authors.lastname: Passon
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Anna Katharina
authors.initials: AK
authors.lastname: Blatzheim
authors.affiliation: 2 University Hospital Bonn, Department of Ophthalmology, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Gliem
authors.affiliation: 2 University Hospital Bonn, Department of Ophthalmology, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Charbel Issa
authors.affiliation: 3 Heart and Diabetes Center NRW, Institute of Laboratory and Transfusion Medicine, University Hospital of Ruhr-University Bochum, Bad Oeynhausen, Germany.
authors.forename: Doris
authors.initials: D
authors.lastname: Hendig
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Fritz
authors.initials: F
authors.lastname: Horlbeck
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Izabela
authors.initials: I
authors.lastname: Tuleta
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Georg
authors.initials: G
authors.lastname: Nickenig
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Nadjib
authors.initials: N
authors.lastname: Schahab
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Dirk
authors.initials: D
authors.lastname: Skowasch
authors.affiliation: 1 University Hospital Bonn, Internal Medicine II - Department of Cardiology, Angiology and Pneumology, Germany.
authors.forename: Christian Alexander
authors.initials: CA
authors.lastname: Schaefer
mesh_terms: D000328:Adult; D055109:Ankle Brachial Index; D050197:Atherosclerosis / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology; D016022:Case-Control Studies; D002908:Chronic Disease; D005260:Female; D005858:Germany / Q000453:epidemiology; D006439:Hemodynamics; D006801:Humans; D008297:Male; D008875:Middle Aged; D058729:Peripheral Arterial Disease / Q000175:diagnosis / Q000453:epidemiology* / Q000503:physiopathology; D015995:Prevalence; D011446:Prospective Studies; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis / Q000453:epidemiology*; D063177:Pulse Wave Analysis; D012307:Risk Factors; D014463:Ultrasonography
keywords: ABCC6; PXE; atherosclerosis; chronic vascular occlusion; peripheral artery disease