Intractable Rare Dis Res. 2018;7(1):25-31. (DOI: 10.5582/irdr.2018.01004)

Carotid strain measurement in patients with pseudoxanthoma elasticum – Hint for a different pathomechanism?

Passon SG, Kullmar V, Blatzheim AK, Pausewang KS, Stumpf MJ, Hendig D, Gliem M, Pingel S, Schueler R, Skowasch D, Schahab N, Nickenig G, Schaefer CA


Pseudoxanthoma Elasticum (PXE), caused by autosomal-recessive mutations in the ATP-binding cassette transporter (ABCC6) gene, is known for high prevalence of atherosclerosis. A novel method investigating elastic properties of arteries in atherosclerotic patients is vascular strain analysis. We compared 44 PXE patients with peripheral artery disease (PXE+PAD group) with 50 control patients, each 25 without (control group) and with PAD (PAD group). All participants underwent an angiological examination including ankle-brachial index (ABI) and were examined with speckle-tracking based vascular strain analysis of common carotid arteries, measuring radial displacement (r.Dis), radial velocity (r.Vel), radial strain (r.Str), circumferential strain (c.Str), radial strainrate (r.SR) and circumferential strainrate (c.SR). We found significant lower ABI in patients with PXE compared to all other groups (each p < 0.01). The vascular strain analysis resulted in significantly decreased values in the PAD group compared to PXE with PAD (each p ≤ 0.01) and controls without PAD (each p ≤ 0.05), whereas no significant difference could be found between PXE+PAD and controls without PAD. We found significant negative correlations between low strain values and a higher prevalence of PAD in non-PXE patients (r.Str r = -0.34; c.Str r = -0.35; r.SR: r = -0.51; c.SR: r = -0.53). In conclusion, PXE patients had similar values for arterial stiffness compared to controls without PAD in vascular strain analysis. In this group, arterial stiffness parameters were significantly higher compared to non-PXE PAD patients. It is worth to discuss whether PAD-like manifestations in PXE are a different kind of disease and might need another strategy in diagnostics and therapy.

KEYWORDS: Pseudoxanthoma Elasticum (PXE), carotid strain, vascular stiffness, ATP-binding cassette transporter (ABCC6), peripheral artery disease (PAD)

Full Text: