Functional and Structural Characterization of Arteriopathy in Pseudoxanthoma Elasticum (PXE)

Functional and Structural Characterization of the Peripheral Arteriopathy in Pseudoxanthoma Elasticum (PXE)

To determine the specific structural and functional features of the peripheral arteriopathy in the Pseudoxanthoma Elasticum (PXE), an inherited autosomal disease.

The primary objective of this study is to characterize the structural and functional characteristics of the peripheral arteries (lower and upper limbs) . a secondary objective will be to determine the arterial calcification using CT-scan as a useful tools for the diagnosis and the follow-up of this disease. Data will be collected from a cohort of patients PXE monitored in our Health and Research PXE center at the University Hospital of Angers. The structural and functional variables of the distal arteries (radial and tibialis arteries) will be studied using high-resolution echography. Scoring of the arterial calcium load will be determined by helicoidal CT-scan in the lower limb arteries. These variables will be compared to matched (gender and age) controls without PXE.

Inclusion Criteria:

• Patients with phenotypically and genetically (ABCC6) proved PXE or control patients paired for age and gender
• Written formed consent obtained
• Patient affiliated to a Health care system

Exclusion Criteria:

• Patient with unproved PXE
• Pregnant woman
• Patient unwilling to participate to the study
• Not affiliated to a Health care System