Increased vascular occlusion in patients with pseudoxanthoma elasticum

Vasa. 2017 Jan;46(1):47-52. doi: 10.1024/0301-1526/a000583. Epub 2016 Dec 8.

Abstract

Background: 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.

Patients and methods: 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.

Results: 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.

Conclusions: In PXE patients atherosclerosis was found with a much higher prevalence than expected. Moreover, they were at very high risk for total vessel occlusions. .

Keywords: ABCC6; PXE; atherosclerosis; chronic vascular occlusion; peripheral artery disease.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Ankle Brachial Index
  • Atherosclerosis / diagnosis
  • Atherosclerosis / epidemiology*
  • Atherosclerosis / physiopathology
  • Case-Control Studies
  • Chronic Disease
  • Female
  • Germany / epidemiology
  • Hemodynamics
  • Humans
  • Male
  • Middle Aged
  • Peripheral Arterial Disease / diagnosis
  • Peripheral Arterial Disease / epidemiology*
  • Peripheral Arterial Disease / physiopathology
  • Prevalence
  • Prospective Studies
  • Pseudoxanthoma Elasticum / diagnosis
  • Pseudoxanthoma Elasticum / epidemiology*
  • Pulse Wave Analysis
  • Risk Factors
  • Ultrasonography