Pseudoxanthoma Elasticum (PXE), an autosomal recessive disease due to mutations in ABCC6 gene, is characterised by fragmentation of elastic fibres with involvement of the cardiovascular system. We investigated a 60-year-old female with angina pectoris found to have PXE, associated with elevated plasma LDL-C suspected to be due to autosomal-co-dominant hypercholesterolemia. METHODS: ABCC6, LDLR, PCSK9 and exon 26 of APOB genes were re-sequenced. Cardiovascular involvement was assessed by coronary angiography, single-photon emission computed tomography (SPECT) and ultrasound examination. RESULTS AND CONCLUSIONS: The patient was a compound heterozygous for two ABCC6 mutations (p.S317R and p.R1141X) and heterozygous for a novel LDLR mutation (p.R574H). She had severe coronary stenosis and calcification of the arteries of the lower limbs. Treatment with ezetimibe/simvastatin 10/60mg/day, maintained over a 4.5-year period, reduced of LDL-C and the myocardial ischemic area. In PXE patients LDL-lowering treatment might contribute to delay macrovascular complications.

Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors / Pisciotta, L; Tarugi, Patrizia Maria; Borrini, C; Bellocchio, A; Fresa, R; Guerra, Deanna; Quaglino, Daniela; Ronchetti, Ivonne; Calandra Buonaura, Sebastiano; Bertolini, S.. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - STAMPA. - 210(2010), pp. 173-176. [10.1016/j.atherosclerosis.2009.11.028]

Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors

TARUGI, Patrizia Maria;GUERRA, Deanna;QUAGLINO, Daniela;RONCHETTI, Ivonne;CALANDRA BUONAURA, Sebastiano;
2010

Abstract

Pseudoxanthoma Elasticum (PXE), an autosomal recessive disease due to mutations in ABCC6 gene, is characterised by fragmentation of elastic fibres with involvement of the cardiovascular system. We investigated a 60-year-old female with angina pectoris found to have PXE, associated with elevated plasma LDL-C suspected to be due to autosomal-co-dominant hypercholesterolemia. METHODS: ABCC6, LDLR, PCSK9 and exon 26 of APOB genes were re-sequenced. Cardiovascular involvement was assessed by coronary angiography, single-photon emission computed tomography (SPECT) and ultrasound examination. RESULTS AND CONCLUSIONS: The patient was a compound heterozygous for two ABCC6 mutations (p.S317R and p.R1141X) and heterozygous for a novel LDLR mutation (p.R574H). She had severe coronary stenosis and calcification of the arteries of the lower limbs. Treatment with ezetimibe/simvastatin 10/60mg/day, maintained over a 4.5-year period, reduced of LDL-C and the myocardial ischemic area. In PXE patients LDL-lowering treatment might contribute to delay macrovascular complications.
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Pseudoxanthoma elasticum and familial hypercholesterolemia: A deleterious combination of cardiovascular risk factors / Pisciotta, L; Tarugi, Patrizia Maria; Borrini, C; Bellocchio, A; Fresa, R; Guerra, Deanna; Quaglino, Daniela; Ronchetti, Ivonne; Calandra Buonaura, Sebastiano; Bertolini, S.. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - STAMPA. - 210(2010), pp. 173-176. [10.1016/j.atherosclerosis.2009.11.028]
Pisciotta, L; Tarugi, Patrizia Maria; Borrini, C; Bellocchio, A; Fresa, R; Guerra, Deanna; Quaglino, Daniela; Ronchetti, Ivonne; Calandra Buonaura, Sebastiano; Bertolini, S.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/636558
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