Early arterial calcification does not correlate with bone loss in pseudoxanthoma elasticum

Area of Science:

• Genetics and Rare Diseases
• Metabolic Bone Diseases
• Vascular Calcification

Background:

• Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by ABCC6 transporter deficiency.
• PXE is characterized by ectopic calcification in skin, retina, and arteries.
• The effect of PXE on bone structure and mineralization is largely unknown.

Purpose of the Study:

• To investigate bone mineralization in PXE patients.
• To explore the relationship between bone demineralization and vascular calcification in PXE.
• To assess the impact of ABCC6 mutations on bone health.

Main Methods:

• A cohort of 96 PXE patients with confirmed ABCC6 mutations was studied.
• Bone mineral density (BMD) was measured using dual-energy X-ray absorptiometry.
• Coronary and lower limb arterial calcification (CAC and LLAC) were assessed by CT scan.

Main Results:

• PXE patients exhibited osteopenia (46%) and osteoporosis (23%), within general population ranges.
• Bone remodeling markers were within normal limits.
• No significant association was found between BMD, arterial calcification, and bone remodeling factors.

Conclusions:

• PXE patients do not have a markedly increased risk of bone demineralization or fractures.
• ABCC6 deficiency does not appear to disrupt the bone-vascular axis.
• Vitamin D supplementation is supported for PXE patients with vitamin D deficiency.